#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SLC2A7	155184	broad.mit.edu	37	1	9086388	9086388	+	Missense_Mutation	SNP	G	G	T	rs150973958	byFrequency	TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:9086388G>T	ENST00000400906.1	-	1	16	c.17C>A	c.(16-18)gCg>gAg	p.A6E		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	6					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGGGGTTCCCGCCTCTTTGTT	0.582																																						uc009vmo.1		NA																	0					0						c.(16-18)GCG>GAG		intestinal facilitative glucose transporter 7							126.0	107.0	113.0					1																	9086388		2203	4300	6503	SO:0001583	missense	155184					integral to membrane|plasma membrane	sugar transmembrane transporter activity	g.chr1:9086388G>T	AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241		"""Solute carriers"""	13445	protein-coding gene	gene with protein product	"""intestinal facilitative glucose transporter 7"""	610371				11780753	Standard	NM_207420		Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.17C>A	1.37:g.9086388G>T	ENSP00000383698:p.Ala6Glu						p.A6E	NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	1	17	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	6			Cytoplasmic (Potential).		A2A333	Missense_Mutation	SNP	ENST00000400906.1	37	c.17C>A	CCDS98.2	.	.	.	.	.	.	.	.	.	.	G	1.238	-0.622035	0.03636	.	.	ENSG00000197241	ENST00000400906	T	0.80304	-1.36	3.9	-3.48	0.04739	Major facilitator superfamily domain, general substrate transporter (1);	2.763120	0.02962	N	0.143209	T	0.52191	0.1719	N	0.03608	-0.345	0.09310	N	1	B	0.23650	0.089	B	0.14578	0.011	T	0.56607	-0.7951	10	0.02654	T	1	.	5.3628	0.16098	0.5719:0.1652:0.2629:0.0	.	6	Q6PXP3	GTR7_HUMAN	E	6	ENSP00000383698:A6E	ENSP00000383698:A6E	A	-	2	0	SLC2A7	9008975	0.000000	0.05858	0.000000	0.03702	0.488000	0.33401	-1.009000	0.03660	-0.613000	0.05694	-0.448000	0.05591	GCG		0.582	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127768.3	NM_207420		7	24	1	0	1.07e-07	1.15e-07	7	24				
VPS13D	55187	broad.mit.edu	37	1	12423152	12423152	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:12423152A>T	ENST00000358136.3	+	52	10427	c.10297A>T	c.(10297-10299)Att>Ttt	p.I3433F	VPS13D_ENST00000356315.4_Missense_Mutation_p.I3408F	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CGAAGGTTACATTTCCACCCT	0.448																																						uc001atv.2		NA																	0				ovary(4)|pancreas(1)	5						c.(10297-10299)ATT>TTT		vacuolar protein sorting 13D isoform 1							259.0	236.0	244.0					1																	12423152		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12423152A>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.10297A>T	1.37:g.12423152A>T	ENSP00000350854:p.Ile3433Phe					VPS13D_uc001atw.2_Missense_Mutation_p.I3408F|VPS13D_uc001atx.2_Missense_Mutation_p.I2620F	p.I3433F	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	52	10438	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3432						Missense_Mutation	SNP	ENST00000358136.3	37	c.10297A>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.726986	0.69074	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.34859	1.34;1.34	6.06	4.87	0.63330	Vacuolar protein sorting-associated protein (1);	0.046170	0.85682	D	0.000000	T	0.33904	0.0879	L	0.44542	1.39	0.80722	D	1	P;B	0.37423	0.594;0.147	B;B	0.39419	0.299;0.164	T	0.14008	-1.0488	10	0.46703	T	0.11	.	13.0773	0.59093	0.8663:0.1337:0.0:0.0	.	3408;3432	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	F	3408;3433	ENSP00000348666:I3408F;ENSP00000350854:I3433F	ENSP00000348666:I3408F	I	+	1	0	VPS13D	12345739	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.848000	0.62874	2.324000	0.78689	0.533000	0.62120	ATT		0.448	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		82	204	0	0	0	0	82	204				
SZT2	23334	broad.mit.edu	37	1	43908207	43908207	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:43908207A>T	ENST00000562955.1	+	57	7898	c.7898A>T	c.(7897-7899)cAt>cTt	p.H2633L	SZT2_ENST00000372442.1_Missense_Mutation_p.H1791L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2690					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCACGAGCCCATCTCATCTTC	0.587																																						uc001cjk.1		NA																	0					0						c.(5371-5373)CAT>CTT		hypothetical protein LOC23334							83.0	84.0	83.0					1																	43908207		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43908207A>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.7898A>T	1.37:g.43908207A>T	ENSP00000457168:p.His2633Leu						p.H1791L	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			43	5834	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	2690					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.5372A>T	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	A	18.42	3.620526	0.66787	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.69557	0.3124	L	0.46157	1.445	0.40081	D	0.976132	D	0.89917	1.0	D	0.87578	0.998	T	0.70781	-0.4779	9	0.44086	T	0.13	.	14.9869	0.71356	1.0:0.0:0.0:0.0	.	2633	Q5T011-5	.	L	1791	.	ENSP00000361519:H1791L	H	+	2	0	SZT2	43680794	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	9.236000	0.95360	1.942000	0.56320	0.533000	0.62120	CAT		0.587	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		53	114	0	0	0	0	53	114				
BEND5	79656	broad.mit.edu	37	1	49202065	49202065	+	Silent	SNP	G	G	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:49202065G>C	ENST00000371833.3	-	5	1040	c.954C>G	c.(952-954)acC>acG	p.T318T	BEND5_ENST00000476096.1_Intron|AGBL4_ENST00000371839.1_Intron|AGBL4_ENST00000371838.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	318	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.					Golgi apparatus (GO:0005794)				large_intestine(5)|lung(2)|skin(1)	8						AATCTCCTTGGGTTACTTGTA	0.468																																						uc001crx.3		NA																	0				skin(1)	1						c.(952-954)ACC>ACG		BEN domain containing 5							166.0	155.0	159.0					1																	49202065		2203	4300	6503	SO:0001819	synonymous_variant	79656							g.chr1:49202065G>C	BC007932	CCDS552.2	1p33	2012-11-22	2008-10-03	2008-10-03	ENSG00000162373	ENSG00000162373		"""BEN domain containing"""	25668	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 165"""	C1orf165		12477932	Standard	NM_024603		Approved	FLJ11588	uc001crx.4	Q7L4P6	OTTHUMG00000008153	ENST00000371833.3:c.954C>G	1.37:g.49202065G>C						AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc001crv.1_Intron|AGBL4_uc010omy.1_Intron|BEND5_uc001crw.3_Silent_p.T149T	p.T318T	NM_024603	NP_078879	Q7L4P6	BEND5_HUMAN			5	998	-			318			BEN.		D3DQ27|Q96A62|Q9HAI3	Silent	SNP	ENST00000371833.3	37	c.954C>G	CCDS552.2																																																																																				0.468	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022323.1	NM_024603		6	234	0	0	0	0	6	234				
DIO1	1733	broad.mit.edu	37	1	54370406	54370406	+	Silent	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:54370406G>A	ENST00000361921.3	+	2	429	c.405G>A	c.(403-405)caG>caA	p.Q135Q	DIO1_ENST00000524406.1_Silent_p.Q6Q|DIO1_ENST00000322679.6_Silent_p.Q135Q|DIO1_ENST00000388876.3_Intron|DIO1_ENST00000532493.1_Intron|DIO1_ENST00000525202.1_Silent_p.Q71Q|DIO1_ENST00000534069.1_3'UTR	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	135					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						AATTTGACCAGTTCAAGAGGC	0.393																																						uc010onx.1		NA																	0					0						c.(403-405)CAG>CAA		deiodinase, iodothyronine, type I isoform a							259.0	233.0	241.0					1																	54370406		1907	4119	6026	SO:0001819	synonymous_variant	1733				hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity	g.chr1:54370406G>A		CCDS30722.1, CCDS41339.1, CCDS41340.1, CCDS53320.1	1p33-p32	2012-03-01			ENSG00000211452	ENSG00000211452	1.97.1.10		2883	protein-coding gene	gene with protein product		147892		TXDI1		8964838	Standard	NM_000792		Approved		uc001cwb.3	P49895	OTTHUMG00000008435	ENST00000361921.3:c.405G>A	1.37:g.54370406G>A						DIO1_uc010onw.1_Silent_p.Q71Q|DIO1_uc009vzl.2_Intron|DIO1_uc001cwb.2_Intron|DIO1_uc010ony.1_Silent_p.Q135Q|DIO1_uc001cwd.2_RNA|DIO1_uc001cwe.2_Intron|DIO1_uc001cwf.2_RNA|DIO1_uc001cwg.2_RNA	p.Q135Q	NM_000792	NP_000783	P49895	IOD1_HUMAN			3	428	+			135					Q1RN02|Q3KNP8|Q6Q4C1|Q6Q4C2|Q6Q4C3|Q6Q4C4|Q6Q4C5|Q6Q4C6|Q6Q4C7|Q6Q4C9|Q8WWC6	Silent	SNP	ENST00000361921.3	37	c.405G>A	CCDS41339.1																																																																																				0.393	DIO1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000023247.3			102	209	0	0	0	0	102	209				
LPHN2	23266	broad.mit.edu	37	1	82436053	82436053	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:82436053C>A	ENST00000370728.1	+	18	3422	c.2777C>A	c.(2776-2778)gCt>gAt	p.A926D	LPHN2_ENST00000319517.6_Missense_Mutation_p.A913D|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Missense_Mutation_p.A926D|LPHN2_ENST00000370721.1_Missense_Mutation_p.A851D|LPHN2_ENST00000370730.1_Missense_Mutation_p.A926D|LPHN2_ENST00000370715.1_Missense_Mutation_p.A913D|LPHN2_ENST00000370723.1_Missense_Mutation_p.A913D|LPHN2_ENST00000359929.3_Missense_Mutation_p.A913D|LPHN2_ENST00000370713.1_Missense_Mutation_p.A913D|LPHN2_ENST00000394879.1_Missense_Mutation_p.A913D|LPHN2_ENST00000370717.2_Missense_Mutation_p.A926D|LPHN2_ENST00000370725.1_Missense_Mutation_p.A926D|LPHN2_ENST00000335786.5_Missense_Mutation_p.A926D|LPHN2_ENST00000370727.1_Missense_Mutation_p.A926D			O95490	LPHN2_HUMAN	latrophilin 2	926					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GCAGCTTTTGCTTGGATGTGC	0.358																																						uc001dit.3		NA																	0				ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(2737-2739)GCT>GAT		latrophilin 2 precursor							151.0	151.0	151.0					1																	82436053		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82436053C>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2777C>A	1.37:g.82436053C>A	ENSP00000359763:p.Ala926Asp					LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.A913D|LPHN2_uc001div.2_Missense_Mutation_p.A913D|LPHN2_uc009wcd.2_Missense_Mutation_p.A913D|LPHN2_uc001diw.2_Missense_Mutation_p.A497D|LPHN2_uc009wce.1_5'UTR	p.A913D	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	15	2919	+			926			Helical; Name=3; (Potential).		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.2738C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.70|17.70	3.455086|3.455086	0.63290|0.63290	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.38240|.	1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.184523|.	0.48767|.	D|.	0.000172|.	D|D	0.83876|0.83876	0.5349|0.5349	M|M	0.89968|0.89968	3.075|3.075	0.51767|0.51767	D|D	0.999937|0.999937	P;P;P|.	0.38922|.	0.552;0.651;0.609|.	B;B;B|.	0.44224|.	0.444;0.203;0.36|.	D|D	0.85860|0.85860	0.1409|0.1409	10|5	0.72032|.	D|.	0.01|.	.|.	19.8622|19.8622	0.96787|0.96787	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	913;913;913|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	D|I	851;926;926;926;926;913;913;913;913;913;926;913;926;926|794	ENSP00000359756:A851D;ENSP00000359763:A926D;ENSP00000359765:A926D;ENSP00000359762:A926D;ENSP00000359760:A926D;ENSP00000359758:A913D;ENSP00000353006:A913D;ENSP00000359750:A913D;ENSP00000359748:A913D;ENSP00000322270:A913D;ENSP00000359752:A926D;ENSP00000378344:A913D;ENSP00000271029:A926D;ENSP00000337306:A926D|.	ENSP00000271029:A926D|.	A|L	+|+	2|1	0|0	LPHN2|LPHN2	82208641|82208641	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.729000|7.729000	0.84864|0.84864	2.691000|2.691000	0.91804|0.91804	0.591000|0.591000	0.81541|0.81541	GCT|CTT		0.358	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		67	230	1	0	6.53e-41	7.42e-41	67	230				
ARHGAP29	9411	broad.mit.edu	37	1	94645394	94645394	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:94645394C>G	ENST00000260526.6	-	20	2549	c.2367G>C	c.(2365-2367)tgG>tgC	p.W789C	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	789	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		ACATATTTGGCCATTTTTTGT	0.308																																						uc001dqj.3		NA																	0				breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11						c.(2365-2367)TGG>TGC		PTPL1-associated RhoGAP 1							157.0	152.0	154.0					1																	94645394		2203	4296	6499	SO:0001583	missense	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94645394C>G		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.2367G>C	1.37:g.94645394C>G	ENSP00000260526:p.Trp789Cys					ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dqk.2_Missense_Mutation_p.W355C	p.W789C	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	20	2736	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	789			Rho-GAP.		O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	c.2367G>C	CCDS748.1	.	.	.	.	.	.	.	.	.	.	C	7.952	0.745134	0.15710	.	.	ENSG00000137962	ENST00000260526	T	0.21361	2.01	5.34	-1.5	0.08691	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.813562	0.10193	N	0.704400	T	0.02610	0.0079	N	0.08118	0	0.19775	N	0.999957	B;P	0.44521	0.0;0.837	B;B	0.39258	0.001;0.295	T	0.29488	-1.0010	10	0.46703	T	0.11	8.1938	3.3363	0.07102	0.188:0.3422:0.3368:0.133	.	789;789	F8VWZ8;Q52LW3	.;RHG29_HUMAN	C	789	ENSP00000260526:W789C	ENSP00000260526:W789C	W	-	3	0	ARHGAP29	94417982	0.208000	0.23494	0.031000	0.17742	0.948000	0.59901	-0.237000	0.08990	-0.320000	0.08640	0.650000	0.86243	TGG		0.308	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		30	123	0	0	0	0	30	123				
ARHGAP29	9411	broad.mit.edu	37	1	94697030	94697030	+	Silent	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:94697030C>T	ENST00000260526.6	-	2	320	c.138G>A	c.(136-138)aaG>aaA	p.K46K	ARHGAP29_ENST00000370217.3_Silent_p.K46K	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	46					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TCACCAACTCCTTGATGTAAT	0.388																																						uc001dqj.3		NA																	0				breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11						c.(136-138)AAG>AAA		PTPL1-associated RhoGAP 1							134.0	129.0	131.0					1																	94697030		2203	4300	6503	SO:0001819	synonymous_variant	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94697030C>T		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.138G>A	1.37:g.94697030C>T						ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dql.2_Silent_p.K46K	p.K46K	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	2	507	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	46					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Silent	SNP	ENST00000260526.6	37	c.138G>A	CCDS748.1																																																																																				0.388	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		58	107	0	0	0	0	58	107				
CELSR2	1952	broad.mit.edu	37	1	109795731	109795731	+	Silent	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:109795731C>T	ENST00000271332.3	+	1	3091	c.3030C>T	c.(3028-3030)caC>caT	p.H1010H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1010	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTACAGTCCACGTCCGCCTCC	0.577																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3		NA																	0				ovary(4)|lung(3)|skin(1)	8						c.(3028-3030)CAC>CAT		cadherin EGF LAG seven-pass G-type receptor 2							79.0	76.0	77.0					1																	109795731		2203	4300	6503	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109795731C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3030C>T	1.37:g.109795731C>T							p.H1010H	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	3091	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1010			Extracellular (Potential).|Cadherin 8.		Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.3030C>T	CCDS796.1																																																																																				0.577	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		22	112	0	0	0	0	22	112				
SPAG17	200162	broad.mit.edu	37	1	118640342	118640342	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:118640342A>T	ENST00000336338.5	-	7	1027	c.962T>A	c.(961-963)aTg>aAg	p.M321K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	321						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TGCTTTGACCATGTACTCAAG	0.408																																						uc001ehk.2		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(961-963)ATG>AAG		sperm associated antigen 17							195.0	166.0	176.0					1																	118640342		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118640342A>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.962T>A	1.37:g.118640342A>T	ENSP00000337804:p.Met321Lys						p.M321K	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	7	1030	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	321					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.962T>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	A	7.981	0.751136	0.15778	.	.	ENSG00000155761	ENST00000336338	T	0.46819	0.86	5.3	-5.82	0.02333	.	0.958863	0.08733	N	0.901801	T	0.18635	0.0447	L	0.60455	1.87	0.09310	N	1	B	0.34015	0.435	B	0.27500	0.08	T	0.30090	-0.9990	10	0.72032	D	0.01	.	9.1771	0.37118	0.4144:0.0:0.4805:0.1051	.	321	Q6Q759	SPG17_HUMAN	K	321	ENSP00000337804:M321K	ENSP00000337804:M321K	M	-	2	0	SPAG17	118441865	0.000000	0.05858	0.081000	0.20488	0.046000	0.14306	-1.094000	0.03359	-1.022000	0.03346	-0.263000	0.10527	ATG		0.408	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		33	75	0	0	0	0	33	75				
NOTCH2NL	388677	broad.mit.edu	37	1	145290477	145290477	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:145290477C>G	ENST00000344859.3	+	5	1045	c.683C>G	c.(682-684)tCa>tGa	p.S228*	NBPF10_ENST00000369339.3_5'UTR|NOTCH2NL_ENST00000479995.2_3'UTR|NBPF10_ENST00000342960.5_5'Flank|NBPF10_ENST00000369338.1_5'Flank|RP11-458D21.5_ENST00000468030.1_Intron			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	0					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GAAAAGGAATCATACTGCTAA	0.368																																						uc001emo.2		NA																	0				ovary(1)	1						c.(682-684)TCA>TGA		Notch homolog 2 N-terminal like protein							328.0	328.0	328.0					1																	145290477		876	1991	2867	SO:0001587	stop_gained	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145290477C>G		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"""Notch homolog 2 (Drosophila) N-terminal like"""			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000344859.3:c.683C>G	1.37:g.145290477C>G	ENSP00000344557:p.Ser228*					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NOTCH2NL_uc010oyh.1_RNA|NBPF10_uc001end.3_5'Flank|NBPF10_uc001emq.1_5'Flank	p.S228*	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN			5	1053	+			Error:Variant_position_missing_in_Q7Z3S9_after_alignment					Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Nonsense_Mutation	SNP	ENST00000344859.3	37	c.683C>G		.	.	.	.	.	.	.	.	.	.	.	21.0	4.077489	0.76528	.	.	ENSG00000213240	ENST00000344859	.	.	.	0.566	0.566	0.17317	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	.	.	.	.	.	.	.	X	228	.	ENSP00000344557:S228X	S	+	2	0	NOTCH2NL	144001834	0.006000	0.16342	0.011000	0.14972	0.133000	0.20885	0.767000	0.26575	0.571000	0.29365	0.184000	0.17185	TCA		0.368	NOTCH2NL-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000038544.1	NM_203458		13	447	0	0	0	0	13	447				
BCL9	607	broad.mit.edu	37	1	147086390	147086390	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:147086390G>A	ENST00000234739.3	+	6	1275	c.535G>A	c.(535-537)Gtg>Atg	p.V179M	BCL9_ENST00000473292.1_3'UTR	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	179	Interacts with PYGO1.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AGTGGTGTACGTGTTTTCTAC	0.507			T	"""IGH@, IGL@"""	B-ALL																																	uc001epq.2		NA		Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	IGH@|IGL@		B-ALL		0				ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(535-537)GTG>ATG		B-cell CLL/lymphoma 9							95.0	89.0	91.0					1																	147086390		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147086390G>A	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.535G>A	1.37:g.147086390G>A	ENSP00000234739:p.Val179Met					BCL9_uc010ozr.1_Missense_Mutation_p.V105M	p.V179M	NM_004326	NP_004317	O00512	BCL9_HUMAN			6	1275	+	all_hematologic(923;0.115)		179					Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.535G>A	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890697	0.91889	.	.	ENSG00000116128	ENST00000234739	T	0.72282	-0.64	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.80592	0.4652	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.80774	-0.1232	10	0.87932	D	0	-22.6019	19.6982	0.96039	0.0:0.0:1.0:0.0	.	179;179	Q1JQ81;O00512	.;BCL9_HUMAN	M	179	ENSP00000234739:V179M	ENSP00000234739:V179M	V	+	1	0	BCL9	145553014	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.449000	0.80643	2.894000	0.99253	0.655000	0.94253	GTG		0.507	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		13	52	0	0	0	0	13	52				
ECM1	1893	broad.mit.edu	37	1	150483454	150483454	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:150483454G>A	ENST00000369047.4	+	6	613	c.488G>A	c.(487-489)cGg>cAg	p.R163Q	ECM1_ENST00000369049.4_Missense_Mutation_p.R190Q|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Missense_Mutation_p.R163Q	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	163	2 X approximate repeats.				angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGGGGCCACCGGCTGGATGGC	0.607																																					Melanoma(156;1696 2560 11093 19685)	uc001eus.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(487-489)CGG>CAG		extracellular matrix protein 1 isoform 1							90.0	101.0	97.0					1																	150483454		2203	4299	6502	SO:0001583	missense	1893				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	g.chr1:150483454G>A	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.488G>A	1.37:g.150483454G>A	ENSP00000358043:p.Arg163Gln					ECM1_uc010pce.1_Missense_Mutation_p.R92Q|ECM1_uc010pcf.1_Missense_Mutation_p.R85Q|ECM1_uc001eut.2_Missense_Mutation_p.R163Q|ECM1_uc001euu.2_Missense_Mutation_p.R192Q|ECM1_uc001euv.2_Missense_Mutation_p.R190Q|ECM1_uc009wlu.2_5'UTR	p.R163Q	NM_004425	NP_004416	Q16610	ECM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		6	687	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		163			2 X approximate repeats.|1.		A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	ENST00000369047.4	37	c.488G>A	CCDS953.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288798	0.80914	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	T;T;T	0.81078	-1.45;-1.45;-1.45	5.04	4.13	0.48395	.	0.210963	0.31601	N	0.007377	T	0.81692	0.4876	M	0.62723	1.935	0.29340	N	0.866113	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998;1.0	D;D;D;D;P;D	0.91635	0.998;0.996;0.999;0.998;0.866;0.998	T	0.76743	-0.2847	10	0.72032	D	0.01	-6.7577	9.3586	0.38182	0.0965:0.0:0.9035:0.0	.	85;92;190;163;163;163	B7ZAS5;Q16610-3;Q16610-4;C8CHS3;Q16610-2;Q16610	.;.;.;.;.;ECM1_HUMAN	Q	190;163;163	ENSP00000358045:R190Q;ENSP00000358043:R163Q;ENSP00000271630:R163Q	ENSP00000271630:R163Q	R	+	2	0	ECM1	148750078	0.208000	0.23494	0.996000	0.52242	0.997000	0.91878	1.574000	0.36482	1.367000	0.46095	0.655000	0.94253	CGG		0.607	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		125	189	0	0	0	0	125	189				
SETDB1	9869	broad.mit.edu	37	1	150935566	150935566	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:150935566A>G	ENST00000271640.5	+	19	3598	c.3408A>G	c.(3406-3408)atA>atG	p.I1136M	RP11-316M1.12_ENST00000560481.1_RNA|RP11-316M1.12_ENST00000561111.1_RNA|SETDB1_ENST00000368969.4_Missense_Mutation_p.I1136M|CERS2_ENST00000345896.4_5'Flank	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1136	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCAGACCATATCCTCTGGCT	0.498																																						uc001evu.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(3406-3408)ATA>ATG		SET domain, bifurcated 1 isoform 1							87.0	74.0	79.0					1																	150935566		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150935566A>G	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.3408A>G	1.37:g.150935566A>G	ENSP00000271640:p.Ile1136Met					SETDB1_uc001evv.2_Missense_Mutation_p.I1136M|SETDB1_uc009wmg.1_Missense_Mutation_p.I1136M	p.I1136M	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		19	3598	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		1136			SET.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.3408A>G	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	a	19.92	3.916262	0.73098	.	.	ENSG00000143379	ENST00000271640;ENST00000368969;ENST00000498193	D;D;T	0.90620	-2.69;-2.7;0.59	5.55	2.71	0.32032	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.87629	0.6225	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.996;0.998	D	0.86763	0.1968	10	0.59425	D	0.04	.	7.2482	0.26133	0.121:0.6822:0.0:0.1968	.	1136;1136;1136	E9PRF4;Q15047-3;Q15047	.;.;SETB1_HUMAN	M	1136	ENSP00000271640:I1136M;ENSP00000357965:I1136M;ENSP00000432348:I1136M	ENSP00000271640:I1136M	I	+	3	3	SETDB1	149202190	0.954000	0.32549	1.000000	0.80357	0.989000	0.77384	0.168000	0.16622	0.330000	0.23485	-0.224000	0.12420	ATA		0.498	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			26	82	0	0	0	0	26	82				
DCST2	127579	broad.mit.edu	37	1	155004226	155004226	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:155004226C>T	ENST00000368424.3	-	4	621	c.563G>A	c.(562-564)tGg>tAg	p.W188*	DCST1_ENST00000392480.1_5'Flank|DCST1_ENST00000295542.1_5'Flank|DCST1_ENST00000423025.2_5'Flank|DCST1_ENST00000368419.2_5'Flank|DCST2_ENST00000295536.5_Nonsense_Mutation_p.W188*	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	188						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GAGCCACTGCCACACATTCCG	0.582																																						uc001fgm.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(562-564)TGG>TAG		DC-STAMP domain containing 2							42.0	36.0	38.0					1																	155004226		2203	4298	6501	SO:0001587	stop_gained	127579					integral to membrane		g.chr1:155004226C>T	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.563G>A	1.37:g.155004226C>T	ENSP00000357409:p.Trp188*					DCST2_uc009wpb.2_RNA|DCST1_uc010per.1_5'Flank|DCST1_uc001fgn.1_5'Flank|DCST1_uc010pes.1_5'Flank	p.W188*	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	643	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		188			Cytoplasmic (Potential).		Q2M2R2|Q8N810|Q96M03	Nonsense_Mutation	SNP	ENST00000368424.3	37	c.563G>A	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	C	27.2	4.814044	0.90790	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	.	.	.	5.67	5.67	0.87782	.	0.115846	0.39544	N	0.001339	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-24.6927	16.674	0.85274	0.0:1.0:0.0:0.0	.	.	.	.	X	188	.	ENSP00000295536:W188X	W	-	2	0	DCST2	153270850	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	3.558000	0.53749	2.678000	0.91216	0.655000	0.94253	TGG		0.582	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		6	19	0	0	0	0	6	19				
OR10X1	128367	broad.mit.edu	37	1	158549182	158549182	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:158549182A>G	ENST00000368150.1	-	1	507	c.508T>C	c.(508-510)Ttt>Ctt	p.F170L		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AGAGAGATAAAGAAGCCTGCA	0.468																																						uc010pin.1		NA																	0				ovary(1)	1						c.(508-510)TTT>CTT		olfactory receptor, family 10, subfamily X,							51.0	53.0	52.0					1																	158549182		2203	4300	6503	SO:0001583	missense	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158549182A>G	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.508T>C	1.37:g.158549182A>G	ENSP00000357132:p.Phe170Leu						p.F170L	NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN			1	508	-	all_hematologic(112;0.0378)		170			Helical; Name=4; (Potential).		Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	c.508T>C	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.985390	0.00443	.	.	ENSG00000186400	ENST00000368150	T	0.29142	1.58	5.0	-1.9	0.07665	GPCR, rhodopsin-like superfamily (1);	0.573552	0.15711	N	0.248408	T	0.01800	0.0057	N	0.01128	-1	0.09310	N	1	B	0.13594	0.008	B	0.18871	0.023	T	0.45041	-0.9288	10	0.05721	T	0.95	.	8.0455	0.30547	0.38:0.1332:0.4868:0.0	.	170	Q8NGY0	O10X1_HUMAN	L	170	ENSP00000357132:F170L	ENSP00000357132:F170L	F	-	1	0	OR10X1	156815806	0.000000	0.05858	0.031000	0.17742	0.083000	0.17756	-4.350000	0.00248	-0.213000	0.10094	0.455000	0.32223	TTT		0.468	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		26	64	0	0	0	0	26	64				
TOR1AIP2	163590	broad.mit.edu	37	1	179815800	179815800	+	Silent	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:179815800C>T	ENST00000367612.3	-	6	1206	c.819G>A	c.(817-819)ctG>ctA	p.L273L	TOR1AIP2_ENST00000609928.1_Silent_p.L273L	NM_145034.4	NP_659471.1	Q9H496	IFG15_HUMAN	torsin A interacting protein 2	0										cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						CTCTCTGCCACAGGAAGGAAC	0.522																																						uc001gnk.2		NA																	0				ovary(1)	1						c.(817-819)CTG>CTA		torsin A interacting protein 2							64.0	67.0	66.0					1																	179815800		2203	4300	6503	SO:0001819	synonymous_variant	163590					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:179815800C>T		CCDS1334.1	1q25.2	2012-02-09			ENSG00000169905	ENSG00000169905			24055	protein-coding gene	gene with protein product		614513				15767459	Standard	NM_145034		Approved	LULL1, NET9, IFRG15	uc001gnk.3	Q8NFQ8	OTTHUMG00000035265	ENST00000367612.3:c.819G>A	1.37:g.179815800C>T						TOR1AIP2_uc001gnl.2_Silent_p.L273L	p.L273L	NM_145034	NP_659471	Q8NFQ8	TOIP2_HUMAN			6	1207	-			273					Q05BU2	Silent	SNP	ENST00000367612.3	37	c.819G>A	CCDS1334.1																																																																																				0.522	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085304.1	NM_145034		28	139	0	0	0	0	28	139				
XPR1	9213	broad.mit.edu	37	1	180805685	180805685	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:180805685A>G	ENST00000367590.4	+	11	1532	c.1334A>G	c.(1333-1335)tAt>tGt	p.Y445C	XPR1_ENST00000367589.3_Intron	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	445	EXS. {ECO:0000255|PROSITE- ProRule:PRU00712}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						AAATATACATATGGTGTGCGG	0.403																																						uc001goi.2		NA																	0					0						c.(1333-1335)TAT>TGT		xenotropic and polytropic retrovirus receptor							91.0	89.0	90.0					1																	180805685		2203	4300	6503	SO:0001583	missense	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180805685A>G	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1334A>G	1.37:g.180805685A>G	ENSP00000356562:p.Tyr445Cys					XPR1_uc009wxm.2_Missense_Mutation_p.Y445C|XPR1_uc009wxn.2_Intron	p.Y445C	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN			11	1526	+			445			Cytoplasmic (Potential).|EXS.		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.1334A>G	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.108577	0.77096	.	.	ENSG00000143324	ENST00000367590	T	0.44482	0.92	5.26	5.26	0.73747	EXS, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.67552	0.2905	M	0.85945	2.785	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.73177	-0.4065	10	0.59425	D	0.04	-9.528	14.8698	0.70448	1.0:0.0:0.0:0.0	.	445	Q9UBH6	XPR1_HUMAN	C	445	ENSP00000356562:Y445C	ENSP00000356562:Y445C	Y	+	2	0	XPR1	179072308	1.000000	0.71417	0.951000	0.38953	0.991000	0.79684	9.123000	0.94387	1.999000	0.58509	0.460000	0.39030	TAT		0.403	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		35	91	0	0	0	0	35	91				
ZBTB41	360023	broad.mit.edu	37	1	197145781	197145781	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:197145781G>A	ENST00000367405.4	-	7	1860	c.1792C>T	c.(1792-1794)Cat>Tat	p.H598Y	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	598					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TTATCATCATGATGTACTCGT	0.299																																						uc001gtx.1		NA																	0				ovary(1)|skin(1)	2						c.(1792-1794)CAT>TAT		zinc finger and BTB domain containing 41							144.0	137.0	140.0					1																	197145781		2202	4297	6499	SO:0001583	missense	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197145781G>A		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.1792C>T	1.37:g.197145781G>A	ENSP00000356375:p.His598Tyr					ZBTB41_uc009wyz.1_RNA	p.H598Y	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN			7	1861	-			598					A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	c.1792C>T	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469468	0.84533	.	.	ENSG00000177888	ENST00000367405	T	0.20200	2.09	6.08	6.08	0.98989	Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44902	D	0.000419	T	0.42471	0.1204	L	0.45470	1.425	0.80722	D	1	D	0.69078	0.997	D	0.66602	0.945	T	0.06320	-1.0833	10	0.72032	D	0.01	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	598	Q5SVQ8	ZBT41_HUMAN	Y	598	ENSP00000356375:H598Y	ENSP00000356375:H598Y	H	-	1	0	ZBTB41	195412404	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.148000	0.94652	2.894000	0.99253	0.591000	0.81541	CAT		0.299	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		38	127	0	0	0	0	38	127				
FMN2	56776	broad.mit.edu	37	1	240493929	240493929	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:240493929G>A	ENST00000319653.9	+	11	4694	c.4464G>A	c.(4462-4464)atG>atA	p.M1488I	FMN2_ENST00000545751.1_Missense_Mutation_p.M84I	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1488	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGGGGTTATGCAGGTTCTAG	0.388																																						uc010pyd.1		NA																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(4462-4464)ATG>ATA		formin 2							129.0	126.0	127.0					1																	240493929		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240493929G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4464G>A	1.37:g.240493929G>A	ENSP00000318884:p.Met1488Ile					FMN2_uc010pye.1_Missense_Mutation_p.M1492I|FMN2_uc010pyf.1_Missense_Mutation_p.M134I|FMN2_uc010pyg.1_Missense_Mutation_p.M84I	p.M1488I	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		11	4689	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1488			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.4464G>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535271	0.64972	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355	T;T	0.16897	2.31;2.31	5.99	5.08	0.68730	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.218669	0.40064	N	0.001187	T	0.27731	0.0682	L	0.31926	0.97	0.80722	D	1	B;B;B;P	0.42827	0.086;0.217;0.166;0.791	B;B;B;P	0.55713	0.056;0.138;0.038;0.782	T	0.01863	-1.1258	10	0.56958	D	0.05	.	15.1049	0.72312	0.0675:0.0:0.9325:0.0	.	84;134;117;1488	B4DP05;F5H2C1;B4DN09;Q9NZ56	.;.;.;FMN2_HUMAN	I	1488;84;115	ENSP00000318884:M1488I;ENSP00000437918:M84I	ENSP00000318884:M1488I	M	+	3	0	FMN2	238560552	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.742000	0.62103	1.529000	0.49120	0.655000	0.94253	ATG		0.388	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		27	106	0	0	0	0	27	106				
AKT3	10000	broad.mit.edu	37	1	243716166	243716166	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:243716166C>A	ENST00000366539.1	-	11	1228	c.1028G>T	c.(1027-1029)aGg>aTg	p.R343M	AKT3_ENST00000263826.5_Missense_Mutation_p.R343M|AKT3_ENST00000336199.5_Missense_Mutation_p.R343M|AKT3_ENST00000366540.1_Missense_Mutation_p.R343M			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	343	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			GAAAGGTAACCTCCCACACAT	0.383																																						uc001iab.1		NA																	0				stomach(1)|lung(1)|breast(1)|central_nervous_system(1)	4						c.(1027-1029)AGG>ATG		AKT3 kinase isoform 1							107.0	108.0	108.0					1																	243716166		2203	4300	6503	SO:0001583	missense	10000				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:243716166C>A	AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	393	protein-coding gene	gene with protein product	"""protein kinase B, gamma"""	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.1028G>T	1.37:g.243716166C>A	ENSP00000355497:p.Arg343Met					AKT3_uc001hzz.1_Missense_Mutation_p.R343M	p.R343M	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)		10	1109	-	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	343			Protein kinase.		Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	ENST00000366539.1	37	c.1028G>T	CCDS31077.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.851025	0.91277	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80088	0.4559	L	0.59967	1.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72075	0.974;0.976	T	0.81226	-0.1029	10	0.66056	D	0.02	.	19.1357	0.93428	0.0:1.0:0.0:0.0	.	343;343	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	M	343	ENSP00000336943:R343M;ENSP00000355498:R343M;ENSP00000355497:R343M;ENSP00000263826:R343M	ENSP00000263826:R343M	R	-	2	0	AKT3	241782789	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.818000	0.86416	2.525000	0.85131	0.557000	0.71058	AGG		0.383	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096479.1	NM_181690		49	275	1	0	1.11e-26	1.25e-26	49	275				
KIF5B	3799	broad.mit.edu	37	10	32326241	32326241	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr10:32326241G>C	ENST00000302418.4	-	8	1109	c.652C>G	c.(652-654)Caa>Gaa	p.Q218E		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	218	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TGTTCCGTTTGTGTGTTCTCT	0.313			T	"""RET, ALK"""	NSCLC																																	uc001iwe.3		NA		Dom	yes		10	10p11.22	3799		kinesin family member 5B			E				KIF5B/ALK(4)	0				lung(4)|ovary(1)	5						c.(652-654)CAA>GAA		kinesin family member 5B							129.0	112.0	118.0					10																	32326241		2202	4299	6501	SO:0001583	missense	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32326241G>C	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.652C>G	10.37:g.32326241G>C	ENSP00000307078:p.Gln218Glu						p.Q218E	NM_004521	NP_004512	P33176	KINH_HUMAN			8	1122	-		Prostate(175;0.0137)	218			Kinesin-motor.		A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	c.652C>G	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	G	4.061	0.009182	0.07912	.	.	ENSG00000170759	ENST00000302418	T	0.74002	-0.8	5.0	5.0	0.66597	Kinesin, motor domain (4);	0.118820	0.56097	D	0.000021	T	0.41719	0.1171	N	0.00514	-1.41	0.49299	D	0.999775	B	0.02656	0.0	B	0.01281	0.0	T	0.55742	-0.8093	10	0.02654	T	1	.	18.6607	0.91471	0.0:0.0:1.0:0.0	.	218	P33176	KINH_HUMAN	E	218	ENSP00000307078:Q218E	ENSP00000307078:Q218E	Q	-	1	0	KIF5B	32366247	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.131000	0.50515	2.449000	0.82847	0.557000	0.71058	CAA		0.313	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		10	120	0	0	0	0	10	120				
PTEN	5728	broad.mit.edu	37	10	89711893	89711893	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr10:89711893C>T	ENST00000371953.3	+	6	1868	c.511C>T	c.(511-513)Cag>Tag	p.Q171*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	171	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.Q171*(9)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Q171E(2)|p.Q171K(1)|p.V166fs*10(1)|p.G165_*404del(1)|p.S170_Q171del(1)|p.S170fs*8(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TATTCCCAGTCAGAGGCGCTA	0.353		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		70	Whole gene deletion(37)|Deletion - Frameshift(11)|Substitution - Nonsense(9)|Complex - frameshift(4)|Unknown(4)|Substitution - Missense(3)|Deletion - In frame(2)	p.Q171*(9)|p.R55fs*1(4)|p.V166fs*17(3)|p.?(3)|p.G165fs*9(3)|p.Y27_N212>Y(2)|p.Q171P(2)|p.Y27fs*1(2)|p.Q171E(2)|p.V166fs*10(1)|p.G165_K342del(1)|p.G165_*404del(1)|p.Q171H(1)|p.S170fs*8(1)	central_nervous_system(23)|prostate(16)|skin(8)|endometrium(6)|lung(5)|ovary(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|soft_tissue(1)|urinary_tract(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	HM971504	PTEN	M		c.(511-513)CAG>TAG		phosphatase and tensin homolog							120.0	124.0	123.0					10																	89711893		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711893C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.511C>T	10.37:g.89711893C>T	ENSP00000361021:p.Gln171*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.Q171*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	1542	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	171	Q->A,E: 75% reduction in phosphatase activity towards PtdIns(3,4,5)P3.		Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.511C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	50	16.540715	0.99866	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.74	5.74	0.90152	.	0.114128	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.5947	19.9308	0.97118	0.0:1.0:0.0:0.0	.	.	.	.	X	171	.	.	Q	+	1	0	PTEN	89701873	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.406000	0.80017	2.722000	0.93159	0.591000	0.81541	CAG		0.353	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		70	105	0	0	0	0	70	105				
TIAL1	7073	broad.mit.edu	37	10	121336662	121336662	+	Missense_Mutation	SNP	G	G	A	rs148932828	byFrequency	TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr10:121336662G>A	ENST00000436547.2	-	10	835	c.791C>T	c.(790-792)aCg>aTg	p.T264M	TIAL1_ENST00000463089.2_5'UTR|TIAL1_ENST00000369092.4_Missense_Mutation_p.T141M|TIAL1_ENST00000369093.2_Missense_Mutation_p.T281M	NM_003252.3	NP_003243.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	264	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|defense response (GO:0006952)|germ cell development (GO:0007281)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell division (GO:0017145)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		TCCTTCAATCGTAGTACCGTT	0.348																																						uc001lei.1		NA																	0				ovary(1)	1						c.(790-792)ACG>ATG		TIA-1 related protein isoform 1		G	MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	85.0	77.0	80.0		842,791	5.6	1.0	10	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TIAL1	NM_001033925.1,NM_003252.3	81,81	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	benign,benign	281/393,264/376	121336662	3,13003	2203	4300	6503	SO:0001583	missense	7073				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding	g.chr10:121336662G>A	AL833106	CCDS7613.1, CCDS31295.1	10q	2013-02-12	2001-11-28		ENSG00000151923	ENSG00000151923		"""RNA binding motif (RRM) containing"""	11804	protein-coding gene	gene with protein product		603413	"""TIA1 cytotoxic granule-associated RNA-binding protein-like 1"""			1326761	Standard	XM_005270108		Approved	TIAR	uc001lej.1	Q01085	OTTHUMG00000019156	ENST00000436547.2:c.791C>T	10.37:g.121336662G>A	ENSP00000394902:p.Thr264Met					TIAL1_uc001leh.1_Missense_Mutation_p.T242M|TIAL1_uc001lej.1_Missense_Mutation_p.T281M|TIAL1_uc001lek.1_Missense_Mutation_p.T141M|TIAL1_uc009xzi.1_Missense_Mutation_p.T133M|TIAL1_uc010qtb.1_Missense_Mutation_p.T141M	p.T264M	NM_003252	NP_003243	Q01085	TIAR_HUMAN		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)	10	1355	-		Lung NSC(174;0.094)|all_lung(145;0.123)	264			RRM 3.		A8K3T0|A8K4L9	Missense_Mutation	SNP	ENST00000436547.2	37	c.791C>T	CCDS7613.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373483	0.61624	4.54E-4	1.16E-4	ENSG00000151923	ENST00000369093;ENST00000369092;ENST00000436547	T;T;T	0.17370	2.28;2.28;2.28	5.56	5.56	0.83823	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.251900	0.46442	N	0.000300	T	0.25606	0.0623	N	0.25031	0.7	0.54753	D	0.999989	P;D;P;P	0.55385	0.929;0.971;0.88;0.78	P;P;P;P	0.58130	0.485;0.833;0.623;0.801	T	0.01405	-1.1363	10	0.29301	T	0.29	-0.7412	19.5286	0.95215	0.0:0.0:1.0:0.0	.	141;141;281;264	B4DHS3;Q49AS9;A8K4L9;Q01085	.;.;.;TIAR_HUMAN	M	281;141;264	ENSP00000358089:T281M;ENSP00000358088:T141M;ENSP00000394902:T264M	ENSP00000358088:T141M	T	-	2	0	TIAL1	121326652	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	4.970000	0.63742	2.619000	0.88677	0.591000	0.81541	ACG		0.348	TIAL1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050672.2	NM_022333, NM_003252		36	34	0	0	0	0	36	34				
LRRC27	80313	broad.mit.edu	37	10	134188714	134188714	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr10:134188714G>A	ENST00000368614.3	+	11	1666	c.1561G>A	c.(1561-1563)Gga>Aga	p.G521R	LRRC27_ENST00000368612.1_Missense_Mutation_p.G459R|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000368610.3_Missense_Mutation_p.G459R|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368613.4_Missense_Mutation_p.G521R	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	521										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-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;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CACAAAATATGGAGAATCAGG	0.522																																						uc010quw.1		NA																	0				ovary(1)	1						c.(1561-1563)GGA>AGA		leucine rich repeat containing 27 isoform a							61.0	62.0	61.0					10																	134188714		2203	4300	6503	SO:0001583	missense	80313							g.chr10:134188714G>A	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.1561G>A	10.37:g.134188714G>A	ENSP00000357603:p.Gly521Arg					LRRC27_uc001llg.2_RNA|LRRC27_uc001lli.2_Missense_Mutation_p.G521R|LRRC27_uc001llj.2_Missense_Mutation_p.G459R	p.G521R	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	11	1756	+		all_cancers(35;6.28e-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)	521					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	ENST00000368614.3	37	c.1561G>A	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	G	8.379	0.837166	0.16891	.	.	ENSG00000148814	ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610	T;T;T;T	0.18502	2.21;2.21;3.98;3.98	3.34	0.905	0.19307	.	.	.	.	.	T	0.08403	0.0209	N	0.08118	0	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32745	-0.9895	9	0.45353	T	0.12	.	7.5983	0.28061	0.0:0.0:0.4761:0.5239	.	459;521	Q9C0I9-2;Q9C0I9	.;LRC27_HUMAN	R	521;521;459;459	ENSP00000357603:G521R;ENSP00000357602:G521R;ENSP00000357601:G459R;ENSP00000357599:G459R	ENSP00000357599:G459R	G	+	1	0	LRRC27	134038704	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	0.040000	0.13905	0.167000	0.19631	-0.467000	0.05162	GGA		0.522	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		20	25	0	0	0	0	20	25				
PKP3	11187	broad.mit.edu	37	11	404005	404005	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:404005C>T	ENST00000331563.2	+	11	2216	c.2140C>T	c.(2140-2142)Cca>Tca	p.P714S		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	714					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAAGTCGCCCCCAGCCGAGGT	0.627																																						uc001lpc.2		NA																	0				skin(1)	1						c.(2140-2142)CCA>TCA		plakophilin 3							43.0	48.0	46.0					11																	404005		2183	4285	6468	SO:0001583	missense	11187				cell adhesion	desmosome|nucleus	binding	g.chr11:404005C>T	Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"""Armadillo repeat containing"""	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.2140C>T	11.37:g.404005C>T	ENSP00000331678:p.Pro714Ser						p.P714S	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	11	2216	+		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	714			ARM 8.		F8J390|Q53EX8	Missense_Mutation	SNP	ENST00000331563.2	37	c.2140C>T	CCDS7695.1	.	.	.	.	.	.	.	.	.	.	c	1.006	-0.689400	0.03328	.	.	ENSG00000184363	ENST00000331563	T	0.47177	0.85	3.96	3.96	0.45880	Armadillo-like helical (1);Armadillo-type fold (1);	0.157646	0.43110	D	0.000608	T	0.19327	0.0464	N	0.01640	-0.785	0.39958	D	0.974622	B	0.06786	0.001	B	0.08055	0.003	T	0.25467	-1.0131	10	0.02654	T	1	-27.3904	16.5894	0.84761	0.0:1.0:0.0:0.0	.	714	Q9Y446	PKP3_HUMAN	S	714	ENSP00000331678:P714S	ENSP00000331678:P714S	P	+	1	0	PKP3	394005	0.972000	0.33761	0.033000	0.17914	0.003000	0.03518	3.852000	0.55934	2.233000	0.73108	0.313000	0.20887	CCA		0.627	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239281.1	NM_007183		24	70	0	0	0	0	24	70				
MUC5AC	4586	broad.mit.edu	37	11	1155707	1155707	+	Silent	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:1155707C>T	ENST00000356191.2	+	5	393	c.393C>T	c.(391-393)caC>caT	p.H131H				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	26	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GCGGCCCCCACGCTGAGCAGG	0.632																																						uc009ycr.1		NA																	0					0						c.(394-396)ACG>ATG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							27.0	27.0	27.0					11																	1155707		873	1989	2862	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1155707C>T	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.393C>T	11.37:g.1155707C>T							p.T132M	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	5	521	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Missense_Mutation	SNP	ENST00000356191.2	37	c.395C>T		.	.	.	.	.	.	.	.	.	.	C	9.345	1.064067	0.20067	.	.	ENSG00000215182	ENST00000534821	T	0.60171	0.21	3.33	3.33	0.38152	.	.	.	.	.	T	0.65709	0.2717	L	0.60455	1.87	.	.	.	D	0.89917	1.0	D	0.68765	0.96	T	0.70249	-0.4924	8	0.45353	T	0.12	.	5.3139	0.15845	0.2038:0.6769:0.0:0.1193	.	132	A7Y9J9	.	M	132	ENSP00000435591:T132M	ENSP00000435591:T132M	T	+	2	0	MUC5AC	1145707	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	0.247000	0.18179	1.858000	0.53909	0.437000	0.28790	ACG		0.632	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_001130382		13	28	0	0	0	0	13	28				
OR51B2	79345	broad.mit.edu	37	11	5344959	5344959	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:5344959A>C	ENST00000328813.2	-	1	623	c.569T>G	c.(568-570)aTa>aGa	p.I190R	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTGAAAGTTATGTCAGCACA	0.353																																						uc001mao.1		NA																	0				ovary(2)|skin(1)	3						c.(568-570)ATA>AGA		olfactory receptor, family 51, subfamily B,							79.0	79.0	79.0					11																	5344959		2201	4297	6498	SO:0001583	missense	79345				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5344959A>C	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"""GPCR / Class A : Olfactory receptors"""	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.569T>G	11.37:g.5344959A>C	ENSP00000327540:p.Ile190Arg					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	p.I190R	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	624	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	190			Extracellular (Potential).		Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	c.569T>G	CCDS31377.1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.839618	0.51057	.	.	ENSG00000184881	ENST00000328813	T	0.00115	8.71	4.28	4.28	0.50868	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40818	U	0.001001	T	0.00468	0.0015	M	0.83774	2.66	0.22292	N	0.999228	D	0.60575	0.988	D	0.71414	0.973	T	0.37430	-0.9706	10	0.72032	D	0.01	.	12.5391	0.56158	1.0:0.0:0.0:0.0	.	190	Q9Y5P1	O51B2_HUMAN	R	190	ENSP00000327540:I190R	ENSP00000327540:I190R	I	-	2	0	OR51B2	5301535	0.000000	0.05858	0.947000	0.38551	0.899000	0.52679	0.128000	0.15810	1.827000	0.53221	0.524000	0.50904	ATA		0.353	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		25	48	0	0	0	0	25	48				
OR56A3	390083	broad.mit.edu	37	11	5969347	5969347	+	Silent	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:5969347C>T	ENST00000329564.6	+	1	778	c.771C>T	c.(769-771)acC>acT	p.T257T		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T257T(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTTCAGCACCATCCTTCTGG	0.527																																						uc010qzt.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(769-771)ACC>ACT		olfactory receptor, family 56, subfamily A,							234.0	226.0	229.0					11																	5969347		2191	4294	6485	SO:0001819	synonymous_variant	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5969347C>T		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.771C>T	11.37:g.5969347C>T							p.T257T	NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	771	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	257			Helical; Name=6; (Potential).		A6NN77|Q6IFF7	Silent	SNP	ENST00000329564.6	37	c.771C>T	CCDS41614.1																																																																																				0.527	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		65	227	0	0	0	0	65	227				
PAX6	5080	broad.mit.edu	37	11	31816281	31816281	+	Silent	SNP	G	G	A	rs367589686		TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:31816281G>A	ENST00000379132.3	-	7	859	c.579C>T	c.(577-579)aaC>aaT	p.N193N	PAX6_ENST00000379111.2_Silent_p.N193N|PAX6_ENST00000379123.5_Silent_p.N193N|PAX6_ENST00000379107.2_Silent_p.N207N|PAX6_ENST00000379115.4_Silent_p.N207N|PAX6_ENST00000419022.1_Silent_p.N207N|PAX6_ENST00000379129.2_Silent_p.N207N|PAX6_ENST00000241001.8_Silent_p.N193N			P26367	PAX6_HUMAN	paired box 6	193	Gln/Gly-rich.				astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					AATCTTCTCCGTTGGAACTGA	0.453									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																													uc001mtd.3		NA																	0				lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9						c.(577-579)AAC>AAT		paired box gene 6 isoform a							123.0	111.0	115.0					11																	31816281		2202	4299	6501	SO:0001819	synonymous_variant	5080	Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	Familial Cancer Database	WAGR syndrome	blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	g.chr11:31816281G>A	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.579C>T	11.37:g.31816281G>A						PAX6_uc001mte.3_Silent_p.N193N|PAX6_uc001mtg.3_Silent_p.N207N|PAX6_uc001mtf.3_Silent_p.N193N|PAX6_uc001mth.3_Silent_p.N193N|PAX6_uc009yjr.2_Silent_p.N193N	p.N193N	NM_001127612	NP_001121084	P26367	PAX6_HUMAN			7	1469	-	Lung SC(675;0.225)		193			Gln/Gly-rich.		Q6N006|Q99413	Silent	SNP	ENST00000379132.3	37	c.579C>T	CCDS31451.1																																																																																				0.453	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604		34	101	0	0	0	0	34	101				
OR4C46	119749	broad.mit.edu	37	11	51515476	51515476	+	Silent	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:51515476C>T	ENST00000328188.1	+	1	195	c.195C>T	c.(193-195)tcC>tcT	p.S65S		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CCTATCTCTCCTTTATTGATG	0.478																																						uc010ric.1		NA																	0				ovary(1)	1						c.(193-195)TCC>TCT		olfactory receptor, family 4, subfamily C,							235.0	222.0	227.0					11																	51515476		2201	4296	6497	SO:0001819	synonymous_variant	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515476C>T		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.195C>T	11.37:g.51515476C>T							p.S65S	NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN			1	195	+			65			Helical; Name=2; (Potential).			Silent	SNP	ENST00000328188.1	37	c.195C>T	CCDS31498.1																																																																																				0.478	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		87	287	0	0	0	0	87	287				
RTN4RL2	349667	broad.mit.edu	37	11	57243919	57243919	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:57243919C>G	ENST00000335099.3	+	3	1115	c.798C>G	c.(796-798)gaC>gaG	p.D266E	RP11-624G17.3_ENST00000528885.1_RNA	NM_178570.1	NP_848665.1			reticulon 4 receptor-like 2											NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GGGCGTGCGACTGCCGCGCGC	0.741																																						uc010rjt.1		NA																	0					0						c.(796-798)GAC>GAG		reticulon 4 receptor-like 2 precursor							5.0	6.0	6.0					11																	57243919		2043	4076	6119	SO:0001583	missense	349667				axon regeneration	anchored to plasma membrane	receptor activity	g.chr11:57243919C>G	BK001302	CCDS7957.1	11q12.1	2008-02-05			ENSG00000186907	ENSG00000186907			23053	protein-coding gene	gene with protein product		610462					Standard	NM_178570		Approved	NgR2, NGRH1	uc010rjt.2	Q86UN3	OTTHUMG00000167028	ENST00000335099.3:c.798C>G	11.37:g.57243919C>G	ENSP00000335397:p.Asp266Glu						p.D266E	NM_178570	NP_848665	Q86UN3	R4RL2_HUMAN			3	798	+			266			LRRCT.			Missense_Mutation	SNP	ENST00000335099.3	37	c.798C>G	CCDS7957.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.714231	0.68730	.	.	ENSG00000186907	ENST00000335099	T	0.02656	4.21	4.43	4.43	0.53597	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.40554	U	0.001068	T	0.11580	0.0282	H	0.95539	3.685	0.80722	D	1	D	0.55800	0.973	B	0.42112	0.376	T	0.36601	-0.9741	10	0.72032	D	0.01	.	16.6163	0.84917	0.0:1.0:0.0:0.0	.	266	Q86UN3	R4RL2_HUMAN	E	266	ENSP00000335397:D266E	ENSP00000335397:D266E	D	+	3	2	RTN4RL2	57000495	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.835000	0.55805	1.991000	0.58162	0.491000	0.48974	GAC		0.741	RTN4RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392537.1	NM_178570		4	17	0	0	0	0	4	17				
KDM2A	22992	broad.mit.edu	37	11	66985219	66985219	+	Silent	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:66985219C>T	ENST00000529006.2	+	9	1151	c.705C>T	c.(703-705)ccC>ccT	p.P235P	KDM2A_ENST00000398645.2_Silent_p.P235P|KDM2A_ENST00000526258.1_Intron	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	235	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						GGCTCATCCCCCCTACAGCCC	0.483																																						uc001ojw.2		NA																	0				ovary(4)|lung(3)|breast(1)|skin(1)	9						c.(703-705)CCC>CCT		F-box and leucine-rich repeat protein 11							73.0	68.0	70.0					11																	66985219		1892	4123	6015	SO:0001819	synonymous_variant	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:66985219C>T	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.705C>T	11.37:g.66985219C>T						KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Intron	p.P235P	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN			9	1569	+			235			JmjC.		D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Silent	SNP	ENST00000529006.2	37	c.705C>T	CCDS44657.1																																																																																				0.483	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		5	39	0	0	0	0	5	39				
ANO1	55107	broad.mit.edu	37	11	70028647	70028647	+	Silent	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:70028647C>T	ENST00000355303.5	+	24	2748	c.2443C>T	c.(2443-2445)Ctg>Ttg	p.L815L	ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000530676.1_Silent_p.L669L|ANO1_ENST00000398543.2_Silent_p.L669L|ANO1_ENST00000531349.1_Silent_p.L524L|ANO1_ENST00000538023.1_Silent_p.L815L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	815					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	CATCCCGCGCCTGGTGTACCT	0.617																																						uc001opj.2		NA																	0				ovary(1)|pancreas(1)	2						c.(2443-2445)CTG>TTG		anoctamin 1, calcium activated chloride channel							83.0	88.0	87.0					11																	70028647		2074	4196	6270	SO:0001819	synonymous_variant	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70028647C>T	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.2443C>T	11.37:g.70028647C>T						ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Silent_p.L524L|ANO1_uc010rql.1_5'UTR	p.L815L	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN			24	2748	+			815			Extracellular (Potential).		A8KAM3|Q8IYY8|Q8N7V3	Silent	SNP	ENST00000355303.5	37	c.2443C>T	CCDS44663.1																																																																																				0.617	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		23	322	0	0	0	0	23	322				
STARD10	10809	broad.mit.edu	37	11	72468875	72468875	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:72468875G>A	ENST00000334805.6	-	5	1433	c.514C>T	c.(514-516)Ctc>Ttc	p.L172F	STARD10_ENST00000545082.1_Missense_Mutation_p.L143F|STARD10_ENST00000538536.1_Missense_Mutation_p.L126F|STARD10_ENST00000538437.1_Intron|STARD10_ENST00000543304.1_Missense_Mutation_p.L172F|ARAP1_ENST00000359373.5_Intron	NM_006645.2	NP_006636.2	Q9Y365	PCTL_HUMAN	StAR-related lipid transfer (START) domain containing 10	172	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				bile acid secretion (GO:0032782)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)	cytosol (GO:0005829)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|microvillus (GO:0005902)	lipid binding (GO:0008289)			endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			CTCTGGATGAGGTAGCCCGTC	0.612																																						uc001osy.2		NA																	0					0						c.(514-516)CTC>TTC		START domain containing 10							85.0	92.0	89.0					11																	72468875		2015	4179	6194	SO:0001583	missense	10809							g.chr11:72468875G>A	AF039696	CCDS41688.1	11q13	2011-09-12	2007-08-16	2003-02-07		ENSG00000214530		"""StAR-related lipid transfer (START) domain containing"""	10666	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 28"", ""START domain containing 10"""	SDCCAG28		9610721	Standard	NM_006645		Approved	NY-CO-28, CGI-52, PCTP2	uc001otb.3	Q9Y365		ENST00000334805.6:c.514C>T	11.37:g.72468875G>A	ENSP00000335247:p.Leu172Phe					ARAP1_uc001osv.2_Intron|STARD10_uc001osz.3_Missense_Mutation_p.L172F|STARD10_uc001ota.2_Missense_Mutation_p.L126F|STARD10_uc001otb.2_Missense_Mutation_p.L172F	p.L172F	NM_006645	NP_006636	Q9Y365	PCTL_HUMAN	BRCA - Breast invasive adenocarcinoma(5;7.08e-07)		5	805	-			172			START.		O60532	Missense_Mutation	SNP	ENST00000334805.6	37	c.514C>T	CCDS41688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.63|15.63	2.891312|2.891312	0.52014|0.52014	.|.	.|.	ENSG00000214530|ENSG00000214530	ENST00000537351;ENST00000543304;ENST00000334805;ENST00000538536;ENST00000545082;ENST00000544767;ENST00000537947;ENST00000536728;ENST00000542989|ENST00000400925	D;D;D;D;D;D;D;D;D|.	0.81579|.	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51|.	5.6|5.6	4.68|4.68	0.58851|0.58851	Lipid-binding START (3);START-like domain (1);|.	0.086617|.	0.48767|.	U|.	0.000177|.	T|T	0.72260|0.72260	0.3438|0.3438	M|M	0.76433|0.76433	2.335|2.335	0.51482|0.51482	D|D	0.999928|0.999928	B;P|.	0.41041|.	0.343;0.736|.	B;B|.	0.44278|.	0.317;0.445|.	T|T	0.72880|0.72880	-0.4158|-0.4158	10|5	0.59425|.	D|.	0.04|.	-13.6067|-13.6067	12.0456|12.0456	0.53477|0.53477	0.0836:0.0:0.9164:0.0|0.0836:0.0:0.9164:0.0	.|.	126;172|.	F5GY11;Q9Y365|.	.;PCTL_HUMAN|.	F|L	79;172;172;126;143;103;172;103;172|18	ENSP00000445708:L79F;ENSP00000438792:L172F;ENSP00000335247:L172F;ENSP00000440016:L126F;ENSP00000443548:L143F;ENSP00000438357:L103F;ENSP00000445657:L172F;ENSP00000442414:L103F;ENSP00000443597:L172F|.	ENSP00000335247:L172F|.	L|P	-|-	1|2	0|0	STARD10|STARD10	72146523|72146523	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.126000|2.126000	0.42026|0.42026	1.364000|1.364000	0.46038|0.46038	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.612	STARD10-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397254.1			35	47	0	0	0	0	35	47				
KDM4E	390245	broad.mit.edu	37	11	94759470	94759470	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:94759470T>C	ENST00000450979.2	+	1	1049	c.749T>C	c.(748-750)gTt>gCt	p.V250A		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	250	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K9 demethylation (GO:0033169)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						TCGCCTACAGTTCTCAAGGAA	0.567																																						uc010ruf.1		NA																	0					0						c.(748-750)GTT>GCT		lysine (K)-specific demethylase 4D-like							29.0	29.0	29.0					11																	94759470		692	1591	2283	SO:0001583	missense	390245				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94759470T>C	BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268		"""Chromatin-modifying enzymes / K-demethylases"""	37098	protein-coding gene	gene with protein product			"""lysine (K)-specific demethylase 4D-like"""	KDM4DL		21076780	Standard	NM_001161630		Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.749T>C	11.37:g.94759470T>C	ENSP00000397239:p.Val250Ala						p.V250A	NM_001161630	NP_001155102	B2RXH2	KD4DL_HUMAN			1	1049	+			250			JmjC.			Missense_Mutation	SNP	ENST00000450979.2	37	c.749T>C	CCDS44713.1	.	.	.	.	.	.	.	.	.	.	t	12.54	1.968973	0.34754	.	.	ENSG00000235268	ENST00000450979	T	0.70516	-0.49	2.18	2.18	0.27775	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	.	.	.	.	T	0.81351	0.4804	M	0.78223	2.4	0.32495	N	0.539646	D	0.76494	0.999	D	0.91635	0.999	T	0.82135	-0.0607	9	0.72032	D	0.01	-26.7241	8.2694	0.31836	0.0:0.0:0.0:1.0	.	250	B2RXH2	KD4DL_HUMAN	A	250	ENSP00000397239:V250A	ENSP00000397239:V250A	V	+	2	0	KDM4DL	94399118	0.999000	0.42202	0.015000	0.15790	0.017000	0.09413	5.064000	0.64338	1.264000	0.44198	0.374000	0.22700	GTT		0.567	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396649.1	NM_001161630		16	19	0	0	0	0	16	19				
SLC6A12	6539	broad.mit.edu	37	12	301770	301770	+	Silent	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr12:301770G>A	ENST00000428720.1	-	15	2318	c.1575C>T	c.(1573-1575)taC>taT	p.Y525Y	SLC6A12_ENST00000359674.4_Silent_p.Y525Y|RP11-283I3.1_ENST00000544067.1_RNA|SLC6A12_ENST00000536824.1_Silent_p.Y525Y|SLC6A12_ENST00000424061.2_Silent_p.Y525Y|SLC6A12_ENST00000397296.2_Silent_p.Y525Y	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	525					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			AGACGTTGTTGTACTTGAGGG	0.572																																						uc001qhz.2		NA																	0				ovary(1)	1						c.(1573-1575)TAC>TAT		solute carrier family 6 (neurotransmitter							111.0	115.0	113.0					12																	301770		2203	4300	6503	SO:0001819	synonymous_variant	6539				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:301770G>A	L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.1575C>T	12.37:g.301770G>A						SLC6A12_uc001qhx.2_Silent_p.Y182Y|SLC6A12_uc001qhy.2_Silent_p.Y81Y|SLC6A12_uc001qia.2_Silent_p.Y525Y|SLC6A12_uc001qib.2_Silent_p.Y525Y|SLC6A12_uc009zdh.1_Silent_p.Y525Y	p.Y525Y	NM_003044	NP_003035	P48065	S6A12_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00227)		16	2118	-	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		525					A0AV52|B2R992|D3DUN8	Silent	SNP	ENST00000428720.1	37	c.1575C>T	CCDS8501.1																																																																																				0.572	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		41	110	0	0	0	0	41	110				
CHD4	1108	broad.mit.edu	37	12	6690898	6690898	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr12:6690898G>A	ENST00000357008.2	-	31	4761	c.4598C>T	c.(4597-4599)cCa>cTa	p.P1533L	CHD4_ENST00000309577.6_Missense_Mutation_p.P1561L|CHD4_ENST00000540960.1_5'Flank|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Missense_Mutation_p.P1526L|CHD4_ENST00000544484.1_Missense_Mutation_p.P1558L|SCARNA11_ENST00000516089.1_RNA	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1533					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GGGTGACCCTGGCTGGGACAT	0.562																																					Colon(32;586 792 4568 16848 45314)	uc001qpo.2		NA																	0				central_nervous_system(2)	2						c.(4597-4599)CCA>CTA		chromodomain helicase DNA binding protein 4							193.0	185.0	188.0					12																	6690898		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6690898G>A	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4598C>T	12.37:g.6690898G>A	ENSP00000349508:p.Pro1533Leu					CHD4_uc001qpn.2_Missense_Mutation_p.P1526L|CHD4_uc001qpp.2_Missense_Mutation_p.P1558L|uc001qpq.1_Intron|SCARNA11_uc001qpr.1_5'Flank	p.P1533L	NM_001273	NP_001264	Q14839	CHD4_HUMAN			31	4762	-			1533					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.4598C>T	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718561	0.48622	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.89875	-2.58;-2.56;-2.57;-2.56	5.76	5.76	0.90799	.	0.129340	0.52532	D	0.000069	D	0.84502	0.5486	L	0.43152	1.355	0.80722	D	1	B;B;B	0.21147	0.052;0.018;0.002	B;B;B	0.24269	0.052;0.016;0.004	T	0.78497	-0.2181	10	0.23302	T	0.38	-4.4237	13.21	0.59819	0.0724:0.0:0.9276:0.0	.	1561;1533;1526	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	L	1558;1526;1561;1533;1507	ENSP00000440392:P1558L;ENSP00000440542:P1526L;ENSP00000312419:P1561L;ENSP00000349508:P1533L	ENSP00000312419:P1561L	P	-	2	0	CHD4	6561159	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.068000	0.50018	2.726000	0.93360	0.655000	0.94253	CCA		0.562	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		66	154	0	0	0	0	66	154				
FAM90A1	55138	broad.mit.edu	37	12	8376719	8376719	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr12:8376719G>C	ENST00000538603.1	-	5	774	c.216C>G	c.(214-216)aaC>aaG	p.N72K	FAM90A1_ENST00000307435.6_Missense_Mutation_p.N72K	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	72							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TTTCCCCAAAGTTCGGTGGAA	0.547																																						uc001qui.2		NA																	0				ovary(1)	1						c.(214-216)AAC>AAG		hypothetical protein LOC55138							76.0	92.0	87.0					12																	8376719		2203	4300	6503	SO:0001583	missense	55138						nucleic acid binding|zinc ion binding	g.chr12:8376719G>C	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.216C>G	12.37:g.8376719G>C	ENSP00000445418:p.Asn72Lys					FAM90A1_uc001quh.2_Missense_Mutation_p.N72K	p.N72K	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN		Kidney(36;0.0866)	5	775	-			72					D3DUU9|Q9NVZ6	Missense_Mutation	SNP	ENST00000538603.1	37	c.216C>G	CCDS31738.1	.	.	.	.	.	.	.	.	.	.	.	5.562	0.288599	0.10513	.	.	ENSG00000171847	ENST00000307435;ENST00000538603	T;T	0.41758	0.99;0.99	0.706	0.706	0.18133	.	.	.	.	.	T	0.20901	0.0503	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.18745	-1.0327	8	0.41790	T	0.15	-5.8235	.	.	.	.	72	Q86YD7	F90A1_HUMAN	K	72	ENSP00000307798:N72K;ENSP00000445418:N72K	ENSP00000307798:N72K	N	-	3	2	FAM90A1	8267986	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.297000	0.19101	0.668000	0.31126	0.196000	0.17591	AAC		0.547	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088		79	164	0	0	0	0	79	164				
PRB1	5542	broad.mit.edu	37	12	11506685	11506685	+	Intron	SNP	G	G	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr12:11506685G>C	ENST00000500254.2	-	3	351				PRB1_ENST00000545626.1_Intron|PRB1_ENST00000546254.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1							extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGTCCTTGTGGCTTTCCTGGA	0.612																																						uc001qzw.1		NA																	0					0						c.(352-354)CCA>GCA		proline-rich protein BstNI subfamily 1 isoform 1							162.0	177.0	172.0					12																	11506685		2160	4271	6431	SO:0001627	intron_variant	5542					extracellular region		g.chr12:11506685G>C		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.313+38C>G	12.37:g.11506685G>C						PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	p.P118A	NM_005039	NP_005030	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	389	-			179		Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S).	7.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	ENST00000500254.2	37	c.352C>G	CCDS8642.1																																																																																				0.612	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		55	762	0	0	0	0	55	762				
KMT2D	8085	broad.mit.edu	37	12	49420409	49420409	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr12:49420409G>A	ENST00000301067.7	-	48	15339	c.15340C>T	c.(15340-15342)Cat>Tat	p.H5114Y		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5114					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CAAGCAAAATGGTAGACATTG	0.557																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(15340-15342)CAT>TAT		myeloid/lymphoid or mixed-lineage leukemia 2							73.0	74.0	74.0					12																	49420409		2160	4250	6410	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49420409G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15340C>T	12.37:g.49420409G>A	ENSP00000301067:p.His5114Tyr	HNSCC(34;0.089)					p.H5114Y	NM_003482	NP_003473	O14686	MLL2_HUMAN			48	15340	-			5114			RING-type 4; degenerate.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15340C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772293	0.31411	.	.	ENSG00000167548	ENST00000301067	D	0.82344	-1.6	4.77	3.85	0.44370	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);	0.000000	0.37809	N	0.001931	D	0.93458	0.7913	H	0.96269	3.795	0.53005	D	0.999965	D	0.76494	0.999	D	0.87578	0.998	D	0.94833	0.7998	10	0.87932	D	0	.	13.3604	0.60652	0.0:0.0:0.8404:0.1596	.	5114	O14686	MLL2_HUMAN	Y	5114	ENSP00000301067:H5114Y	ENSP00000301067:H5114Y	H	-	1	0	MLL2	47706676	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	1.112000	0.41740	0.561000	0.74099	CAT		0.557	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			35	90	0	0	0	0	35	90				
PRPF40B	25766	broad.mit.edu	37	12	50037938	50037938	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr12:50037938G>A	ENST00000380281.1	+	25	2643	c.2579G>A	c.(2578-2580)cGg>cAg	p.R860Q	PRPF40B_ENST00000548825.2_Missense_Mutation_p.R881Q|FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000261897.1_Missense_Mutation_p.R847Q			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	860					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GAGAGGCGGCGGCGGACACTC	0.607											OREG0021798	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rur.1		NA																	0				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						c.(2578-2580)CGG>CAG		Huntingtin interacting protein C isoform 1							136.0	108.0	118.0					12																	50037938		2203	4300	6503	SO:0001583	missense	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50037938G>A	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.2579G>A	12.37:g.50037938G>A	ENSP00000369634:p.Arg860Gln		OREG0021798	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	966	FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001ruq.1_Missense_Mutation_p.R847Q|PRPF40B_uc001rus.1_Missense_Mutation_p.R802Q|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR	p.R860Q	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN			25	2643	+			860					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.2579G>A		.	.	.	.	.	.	.	.	.	.	G	26.6	4.752029	0.89753	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.34275	1.39;1.37	4.86	3.97	0.46021	.	0.181463	0.37178	N	0.002210	T	0.34978	0.0916	L	0.59436	1.845	0.80722	D	1	B;B	0.22909	0.046;0.077	B;B	0.14023	0.004;0.01	T	0.29640	-1.0005	10	0.72032	D	0.01	-17.1393	12.6766	0.56897	0.0819:0.0:0.9181:0.0	.	860;847	Q6NWY9;Q6NWY9-2	PR40B_HUMAN;.	Q	847;860	ENSP00000261897:R847Q;ENSP00000369634:R860Q	ENSP00000261897:R847Q	R	+	2	0	PRPF40B	48324205	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.973000	0.93428	1.418000	0.47098	0.561000	0.74099	CGG		0.607	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		17	62	0	0	0	0	17	62				
GNPTAB	79158	broad.mit.edu	37	12	102151077	102151077	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr12:102151077A>G	ENST00000299314.7	-	18	3609	c.3347T>C	c.(3346-3348)aTg>aCg	p.M1116T		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1116					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TTCTTCTCCCATGATTTCAAA	0.284																																						uc001tit.2		NA																	0				ovary(1)|skin(1)	2						c.(3346-3348)ATG>ACG		N-acetylglucosamine-1-phosphate transferase							66.0	63.0	64.0					12																	102151077		2203	4300	6503	SO:0001583	missense	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102151077A>G	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.3347T>C	12.37:g.102151077A>G	ENSP00000299314:p.Met1116Thr						p.M1116T	NM_024312	NP_077288	Q3T906	GNPTA_HUMAN			18	3526	-			1116					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	c.3347T>C	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.170623	0.38315	.	.	ENSG00000111670	ENST00000299314	D	0.81739	-1.53	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.80757	0.4684	L	0.45581	1.43	0.80722	D	1	P	0.50443	0.935	P	0.48571	0.582	T	0.79420	-0.1811	10	0.33940	T	0.23	-31.9394	16.6154	0.84909	1.0:0.0:0.0:0.0	.	1116	Q3T906	GNPTA_HUMAN	T	1116	ENSP00000299314:M1116T	ENSP00000299314:M1116T	M	-	2	0	GNPTAB	100675208	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.927000	0.92846	2.315000	0.78130	0.533000	0.62120	ATG		0.284	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			7	45	0	0	0	0	7	45				
DRAM1	55332	broad.mit.edu	37	12	102295157	102295157	+	Silent	SNP	T	T	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr12:102295157T>C	ENST00000258534.8	+	3	727	c.288T>C	c.(286-288)tcT>tcC	p.S96S	DRAM1_ENST00000544152.1_Silent_p.S96S	NM_018370.2	NP_060840.2	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1	96					apoptotic process (GO:0006915)|autophagy (GO:0006914)|regulation of autophagy (GO:0010506)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						ACTTGGTGTCTTTAGTGCTTG	0.408																																						uc001tix.2		NA																	0				ovary(1)	1						c.(286-288)TCT>TCC		DNA-damage regulated autophagy modulator 1							211.0	193.0	198.0					12																	102295157		1887	4101	5988	SO:0001819	synonymous_variant	55332				apoptosis|autophagy	integral to membrane|lysosomal membrane		g.chr12:102295157T>C	BC018435, DA721965	CCDS41823.1	12q23.2	2014-02-12	2009-06-12		ENSG00000136048	ENSG00000136048			25645	protein-coding gene	gene with protein product	"""damage-regulated autophagy modulator"""	610776				16839881	Standard	NM_018370		Approved	FLJ11259, DRAM	uc001tix.3	Q8N682		ENST00000258534.8:c.288T>C	12.37:g.102295157T>C						DRAM1_uc010svv.1_Silent_p.S96S	p.S96S	NM_018370	NP_060840	Q8N682	DRAM1_HUMAN			3	751	+			96			Helical; (Potential).		B7Z4T0|Q7L3E3|Q9NUN1	Silent	SNP	ENST00000258534.8	37	c.288T>C	CCDS41823.1																																																																																				0.408	DRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409195.1	NM_018370		23	85	0	0	0	0	23	85				
PPTC7	160760	broad.mit.edu	37	12	110968353	110968353	+	IGR	SNP	A	A	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr12:110968353A>G	ENST00000354300.3	-	0	6926				RAD9B_ENST00000409425.1_Silent_p.A311A|RAD9B_ENST00000409778.3_Intron|RAD9B_ENST00000409246.1_Silent_p.A311A|RAD9B_ENST00000409300.1_Silent_p.A383A|RAD9B_ENST00000392672.4_Silent_p.A383A	NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)							mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						TCTTTGGAGCAGTTTCTTCTG	0.433																																						uc001trf.3		NA																	0				pancreas(1)|skin(1)	2						c.(1147-1149)GCA>GCG		RAD9 homolog B							159.0	145.0	150.0					12																	110968353		2203	4300	6503	SO:0001628	intergenic_variant	144715				cell cycle checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding	g.chr12:110968353A>G	AF385435	CCDS9149.1	12q24.11	2009-11-05				ENSG00000196850			30695	protein-coding gene	gene with protein product	"""T cell activation protein phosphatase 2C"""	609668				15177553	Standard	NM_139283		Approved	TA-PP2C	uc001trh.1	Q8NI37	OTTHUMG00000169529		12.37:g.110968353A>G						RAD9B_uc001trg.3_Silent_p.A383A|RAD9B_uc010sya.1_Intron|RAD9B_uc001tre.3_Silent_p.A311A|RAD9B_uc001trd.3_Silent_p.A225A	p.A383A	NM_152442	NP_689655	Q6WBX8	RAD9B_HUMAN			11	1287	+			380					B3KWC5|Q68DZ7|Q6UY82	Silent	SNP	ENST00000354300.3	37	c.1149A>G	CCDS9149.1																																																																																				0.433	PPTC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404635.1	NM_139283		36	127	0	0	0	0	36	127				
SFSWAP	6433	broad.mit.edu	37	12	132237706	132237706	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr12:132237706C>T	ENST00000261674.4	+	8	1261	c.1120C>T	c.(1120-1122)Ccg>Tcg	p.P374S	SFSWAP_ENST00000541286.1_Missense_Mutation_p.P374S	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	374					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CTACATGCTACCGGACGGCAC	0.612																																						uc001uja.1		NA																	0					0						c.(1120-1122)CCG>TCG		splicing factor, arginine/serine-rich 8							122.0	113.0	116.0					12																	132237706		2203	4300	6503	SO:0001583	missense	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132237706C>T	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.1120C>T	12.37:g.132237706C>T	ENSP00000261674:p.Pro374Ser					SFRS8_uc010tbn.1_Missense_Mutation_p.P374S|SFRS8_uc001ujb.1_Missense_Mutation_p.P167S|SFRS8_uc001uiz.1_Missense_Mutation_p.P248S	p.P374S	NM_004592	NP_004583	Q12872	SFSWA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)	8	1260	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		374					B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	ENST00000261674.4	37	c.1120C>T	CCDS9273.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869487	0.91587	.	.	ENSG00000061936	ENST00000261674;ENST00000544623;ENST00000535236;ENST00000541286	T;T;T	0.30714	2.55;1.52;2.59	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.56124	0.1964	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.53878	-0.8376	10	0.46703	T	0.11	-25.4937	19.2737	0.94021	0.0:1.0:0.0:0.0	.	374;374;311	F5H6B8;Q12872;F5H525	.;SFSWA_HUMAN;.	S	374;311;167;374	ENSP00000261674:P374S;ENSP00000443045:P167S;ENSP00000437738:P374S	ENSP00000261674:P374S	P	+	1	0	SFSWAP	130803659	1.000000	0.71417	0.846000	0.33378	0.634000	0.38068	7.700000	0.84556	2.622000	0.88805	0.462000	0.41574	CCG		0.612	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		56	119	0	0	0	0	56	119				
ZMYM2	7750	broad.mit.edu	37	13	20656229	20656229	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr13:20656229A>G	ENST00000382874.2	+	23	3717	c.3527A>G	c.(3526-3528)aAt>aGt	p.N1176S	ZMYM2_ENST00000494061.2_3'UTR|ZMYM2_ENST00000382871.2_Missense_Mutation_p.N1176S|ZMYM2_ENST00000382869.3_Missense_Mutation_p.N1176S	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CAAGAATTGAATAAAATACTG	0.328																																						uc001umr.2		NA																	0				lung(3)|ovary(2)|prostate(1)	6						c.(3526-3528)AAT>AGT		zinc finger protein 198							48.0	46.0	47.0					13																	20656229		1814	4079	5893	SO:0001583	missense	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20656229A>G	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.3527A>G	13.37:g.20656229A>G	ENSP00000372327:p.Asn1176Ser					ZMYM2_uc001ums.2_Missense_Mutation_p.N1176S|ZMYM2_uc001umt.2_Missense_Mutation_p.N1176S|ZMYM2_uc001umv.2_Missense_Mutation_p.N556S|ZMYM2_uc001umw.2_Missense_Mutation_p.N629S	p.N1176S	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	23	3825	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	1176					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	c.3527A>G	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.356734	0.41801	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382870	T	0.18174	2.23	5.44	4.25	0.50352	.	0.082861	0.85682	D	0.000000	T	0.15003	0.0362	L	0.41824	1.3	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.03493	-1.1031	10	0.46703	T	0.11	-29.0526	11.9114	0.52741	0.9285:0.0:0.0715:0.0	.	1176	Q9UBW7	ZMYM2_HUMAN	S	1176;1176;1174;1174;554	ENSP00000372322:N1176S	ENSP00000372322:N1176S	N	+	2	0	ZMYM2	19554229	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.832000	0.48152	2.198000	0.70561	0.482000	0.46254	AAT		0.328	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		16	15	0	0	0	0	16	15				
KATNAL1	84056	broad.mit.edu	37	13	30801627	30801627	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr13:30801627C>T	ENST00000380615.3	-	9	1236	c.1069G>A	c.(1069-1071)Gct>Act	p.A357T	KATNAL1_ENST00000380617.3_Missense_Mutation_p.A357T	NM_032116.4	NP_115492.1			katanin p60 subunit A-like 1											autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		AAATTAGTAGCAGCCAATACC	0.378																																						uc001uss.2		NA																	0					0						c.(1069-1071)GCT>ACT		katanin p60 subunit A-like 1							110.0	103.0	105.0					13																	30801627		2203	4300	6503	SO:0001583	missense	84056					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	g.chr13:30801627C>T	AK097423	CCDS31956.1	13q12.3	2010-04-21			ENSG00000102781	ENSG00000102781		"""ATPases / AAA-type"""	28361	protein-coding gene	gene with protein product		614764				12477932	Standard	NM_001014380		Approved	MGC2599	uc001uss.4	Q9BW62	OTTHUMG00000016665	ENST00000380615.3:c.1069G>A	13.37:g.30801627C>T	ENSP00000369989:p.Ala357Thr					KATNAL1_uc001ust.2_Missense_Mutation_p.A357T	p.A357T	NM_001014380	NP_001014402	Q9BW62	KATL1_HUMAN		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)	9	1170	-		Lung SC(185;0.0257)	357						Missense_Mutation	SNP	ENST00000380615.3	37	c.1069G>A	CCDS31956.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267290	0.80469	.	.	ENSG00000102781	ENST00000380615;ENST00000380617	D;D	0.94576	-3.46;-3.46	4.99	4.99	0.66335	ATPase, AAA-type, conserved site (1);ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.96309	0.8796	L	0.52126	1.63	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96772	0.9569	10	0.62326	D	0.03	-16.2773	18.2856	0.90113	0.0:1.0:0.0:0.0	.	357	Q9BW62	KATL1_HUMAN	T	357	ENSP00000369989:A357T;ENSP00000369991:A357T	ENSP00000369989:A357T	A	-	1	0	KATNAL1	29699627	1.000000	0.71417	0.966000	0.40874	0.370000	0.29829	7.701000	0.84566	2.308000	0.77769	0.563000	0.77884	GCT		0.378	KATNAL1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044346.2	NM_032116		20	43	0	0	0	0	20	43				
KLHL1	57626	broad.mit.edu	37	13	70535475	70535475	+	Missense_Mutation	SNP	T	T	A	rs376168535		TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr13:70535475T>A	ENST00000377844.4	-	3	1541	c.782A>T	c.(781-783)aAt>aTt	p.N261I	KLHL1_ENST00000545028.1_Missense_Mutation_p.N68I	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	261	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCAGAGAGCATTGGGGTCTAT	0.383																																						uc001vip.2		NA																	0					0						c.(781-783)AAT>ATT		kelch-like 1 protein							160.0	140.0	147.0					13																	70535475		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70535475T>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.782A>T	13.37:g.70535475T>A	ENSP00000367075:p.Asn261Ile					KLHL1_uc010thm.1_Missense_Mutation_p.N200I	p.N261I	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	3	1576	-		Breast(118;0.000162)	261			BTB.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.782A>T	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.800909	0.50315	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.67865	-0.29;-0.29	5.08	5.08	0.68730	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000001	T	0.67135	0.2861	L	0.52266	1.64	0.33645	D	0.607714	P;P	0.41498	0.752;0.592	P;P	0.47705	0.555;0.555	T	0.78021	-0.2367	10	0.59425	D	0.04	.	10.4062	0.44258	0.0:0.0768:0.0:0.9232	.	261;261	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	I	261;68	ENSP00000367075:N261I;ENSP00000439602:N68I	ENSP00000367075:N261I	N	-	2	0	KLHL1	69433476	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.347000	0.52200	2.048000	0.60808	0.460000	0.39030	AAT		0.383	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		44	55	0	0	0	0	44	55				
SUPT16H	11198	broad.mit.edu	37	14	21831284	21831284	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr14:21831284G>A	ENST00000216297.2	-	13	1758	c.1420C>T	c.(1420-1422)Cga>Tga	p.R474*		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	474					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TGTGCTCTTCGCTTCTCTTCT	0.398																																						uc001wao.2		NA																	0					0						c.(1420-1422)CGA>TGA		chromatin-specific transcription elongation							154.0	148.0	150.0					14																	21831284		2203	4300	6503	SO:0001587	stop_gained	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21831284G>A	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.1420C>T	14.37:g.21831284G>A	ENSP00000216297:p.Arg474*						p.R474*	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	13	1759	-	all_cancers(95;0.00115)		474			Potential.		Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Nonsense_Mutation	SNP	ENST00000216297.2	37	c.1420C>T	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	G	40	7.961673	0.98583	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.31	3.22	0.36961	.	0.065218	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.4417	14.5815	0.68295	0.0:0.0:0.7246:0.2754	.	.	.	.	X	474	.	ENSP00000216297:R474X	R	-	1	2	SUPT16H	20901124	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.213000	0.58520	1.201000	0.43203	0.655000	0.94253	CGA		0.398	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			58	171	0	0	0	0	58	171				
MYH7	4625	broad.mit.edu	37	14	23884668	23884668	+	Silent	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr14:23884668G>A	ENST00000355349.3	-	36	5367	c.5205C>T	c.(5203-5205)tcC>tcT	p.S1735S	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1735					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCTGGAGCTGGGACAGGTCAG	0.557																																						uc001wjx.2		NA																	0				ovary(3)|skin(1)	4						c.(5203-5205)TCC>TCT		myosin, heavy chain 7, cardiac muscle, beta							161.0	127.0	138.0					14																	23884668		2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23884668G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.5205C>T	14.37:g.23884668G>A							p.S1735S	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	36	5311	-	all_cancers(95;2.54e-05)		1735			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.5205C>T	CCDS9601.1																																																																																				0.557	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		46	125	0	0	0	0	46	125				
GPR137C	283554	broad.mit.edu	37	14	53098999	53098999	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr14:53098999A>C	ENST00000321662.6	+	4	839	c.839A>C	c.(838-840)aAt>aCt	p.N280T		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	280						integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					AGTCCATTTAATTATGGCTGG	0.388																																						uc001wzu.3		NA																	0					0						c.(838-840)AAT>ACT		G protein-coupled receptor 137C							129.0	126.0	127.0					14																	53098999		1850	4089	5939	SO:0001583	missense	283554					integral to membrane		g.chr14:53098999A>C	BX647179	CCDS45106.1	14q22.1	2012-08-10				ENSG00000180998			25445	protein-coding gene	gene with protein product							Standard	NM_001099652		Approved	DKFZp762F0713, TM7SF1L2	uc001wzu.4	Q8N3F9		ENST00000321662.6:c.839A>C	14.37:g.53098999A>C	ENSP00000315106:p.Asn280Thr					GPR137C_uc001wzt.3_Missense_Mutation_p.N296T	p.N280T	NM_001099652	NP_001093122	Q8N3F9	G137C_HUMAN			4	839	+	Breast(41;0.0716)		280			Extracellular (Potential).		Q86SM2	Missense_Mutation	SNP	ENST00000321662.6	37	c.839A>C	CCDS45106.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.8|22.8	4.342854|4.342854	0.82022|0.82022	.|.	.|.	ENSG00000180998|ENSG00000180998	ENST00000321662|ENST00000542169	T|.	0.50548|.	0.74|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.041017|.	0.85682|.	D|.	0.000000|.	T|.	0.58991|.	0.2161|.	L|L	0.48642|0.48642	1.525|1.525	0.58432|0.58432	D|D	0.999998|0.999998	D;D|.	0.65815|.	0.995;0.995|.	P;P|.	0.56163|.	0.793;0.793|.	T|.	0.57382|.	-0.7821|.	10|.	0.66056|.	D|.	0.02|.	-17.6505|-17.6505	10.4083|10.4083	0.44278|0.44278	0.9269:0.0:0.0731:0.0|0.9269:0.0:0.0731:0.0	.|.	280;109|.	Q8N3F9;B3KW22|.	G137C_HUMAN;.|.	T|Y	280|249	ENSP00000315106:N280T|.	ENSP00000315106:N280T|.	N|X	+|+	2|3	0|2	GPR137C|GPR137C	52168749|52168749	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.823000|5.823000	0.69272|0.69272	2.250000|2.250000	0.74265|0.74265	0.482000|0.482000	0.46254|0.46254	AAT|TAA		0.388	GPR137C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411685.1	XM_290615		30	69	0	0	0	0	30	69				
PLEKHH1	57475	broad.mit.edu	37	14	68008608	68008608	+	Silent	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr14:68008608G>A	ENST00000329153.5	+	2	156	c.24G>A	c.(22-24)gcG>gcA	p.A8A		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	8						cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AGGTGGAGGCGCCGGCCAGCG	0.537																																						uc001xjl.1		NA																	0					0						c.(22-24)GCG>GCA		pleckstrin homology domain containing, family H							18.0	21.0	20.0					14																	68008608		1913	4130	6043	SO:0001819	synonymous_variant	57475					cytoskeleton	binding	g.chr14:68008608G>A	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.24G>A	14.37:g.68008608G>A							p.A8A	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN		all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)	2	166	+			8					A6H8X6|Q6PJL4|Q6ZWC7	Silent	SNP	ENST00000329153.5	37	c.24G>A	CCDS45128.1																																																																																				0.537	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054		3	10	0	0	0	0	3	10				
ZFYVE26	23503	broad.mit.edu	37	14	68249583	68249583	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr14:68249583G>A	ENST00000347230.4	-	21	4424	c.4286C>T	c.(4285-4287)gCc>gTc	p.A1429V	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A1429V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1429					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GAGCTGAAGGGCCCGGGACCA	0.532																																						uc001xka.2		NA																	0				ovary(9)|breast(2)	11						c.(4285-4287)GCC>GTC		zinc finger, FYVE domain containing 26							112.0	115.0	114.0					14																	68249583		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68249583G>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.4286C>T	14.37:g.68249583G>A	ENSP00000251119:p.Ala1429Val					ZFYVE26_uc010tsz.1_Intron|ZFYVE26_uc001xkc.3_Missense_Mutation_p.A1429V	p.A1429V	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	21	4425	-			1429					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.4286C>T	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	33	5.197643	0.94997	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.41065	1.2;1.01	5.5	5.5	0.81552	.	0.057859	0.64402	D	0.000002	T	0.65260	0.2674	M	0.67953	2.075	0.53688	D	0.99997	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.941	T	0.65813	-0.6077	10	0.72032	D	0.01	-14.6173	19.5916	0.95514	0.0:0.0:1.0:0.0	.	1429;1429	G3V2D8;Q68DK2	.;ZFY26_HUMAN	V	1429;1408;1429	ENSP00000251119:A1429V;ENSP00000450603:A1429V	ENSP00000251119:A1429V	A	-	2	0	ZFYVE26	67319336	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	8.647000	0.91057	2.861000	0.98227	0.655000	0.94253	GCC		0.532	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		80	226	0	0	0	0	80	226				
HEATR4	399671	broad.mit.edu	37	14	73957815	73957815	+	Intron	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr14:73957815C>T	ENST00000553558.1	-	17	3166				C14orf169_ENST00000531973.1_RNA|HEATR4_ENST00000560393.1_Intron|HEATR4_ENST00000334988.2_Intron	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CGGTCCTGGCCCTGCCCTTGA	0.677																																						uc001xok.1		NA																	0					0						c.(91-93)GCC>GCT		chromosome 14 open reading frame 169							34.0	38.0	37.0					14																	73957815		1925	4125	6050	SO:0001627	intron_variant	79697				negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K4 specific)|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr14:73957815C>T	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2844+1954G>A	14.37:g.73957815C>T						HEATR4_uc010tua.1_Intron	p.A31A	NM_024644	NP_078920	Q9H6W3	NO66_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.215)	1	172	+			31					B7Z7V9|E9KL41	Silent	SNP	ENST00000553558.1	37	c.93C>T	CCDS9815.2																																																																																				0.677	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309		15	27	0	0	0	0	15	27				
PNMA1	9240	broad.mit.edu	37	14	74179621	74179621	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr14:74179621T>C	ENST00000316836.3	-	1	1507	c.722A>G	c.(721-723)gAg>gGg	p.E241G		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	241					inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		cctagagctctcaacgctccc	0.517																																						uc001xor.1		NA																	0				ovary(1)	1						c.(721-723)GAG>GGG		paraneoplastic antigen MA1							66.0	74.0	71.0					14																	74179621		2203	4300	6503	SO:0001583	missense	9240				apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding	g.chr14:74179621T>C	AF037364	CCDS9818.1	14q24.3	2012-02-09	2012-02-09		ENSG00000176903	ENSG00000176903		"""Paraneoplastic Ma antigens"""	9158	protein-coding gene	gene with protein product		604010	"""paraneoplastic antigen MA1"""			10050892	Standard	NM_006029		Approved	MA1	uc001xor.1	Q8ND90	OTTHUMG00000169183	ENST00000316836.3:c.722A>G	14.37:g.74179621T>C	ENSP00000318914:p.Glu241Gly						p.E241G	NM_006029	NP_006020	Q8ND90	PNMA1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)	1	1508	-			241					A8K4L5|O95144|Q8NG07	Missense_Mutation	SNP	ENST00000316836.3	37	c.722A>G	CCDS9818.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.328144	0.81690	.	.	ENSG00000176903	ENST00000316836	T	0.11604	2.76	4.05	4.05	0.47172	.	0.163359	0.30085	N	0.010444	T	0.23249	0.0562	L	0.49126	1.545	0.37290	D	0.908226	D	0.71674	0.998	D	0.68353	0.957	T	0.03795	-1.1003	10	0.87932	D	0	-7.9369	9.6908	0.40127	0.0:0.0:0.0:1.0	.	241	Q8ND90	PNMA1_HUMAN	G	241	ENSP00000318914:E241G	ENSP00000318914:E241G	E	-	2	0	PNMA1	73249374	0.999000	0.42202	0.998000	0.56505	0.909000	0.53808	3.059000	0.49947	2.063000	0.61619	0.533000	0.62120	GAG		0.517	PNMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402774.1	NM_006029		41	115	0	0	0	0	41	115				
RPS6KA5	9252	broad.mit.edu	37	14	91338426	91338426	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr14:91338426C>T	ENST00000261991.3	-	17	2574	c.2401G>A	c.(2401-2403)Gta>Ata	p.V801I	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.V722I	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	801					axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		GCCTAAGCTACTGAGTCCGAG	0.483																																						uc001xys.2		NA																	0				ovary(1)	1						c.(2401-2403)GTA>ATA		ribosomal protein S6 kinase, polypeptide 5							151.0	146.0	148.0					14																	91338426		2203	4300	6503	SO:0001583	missense	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91338426C>T	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.2401G>A	14.37:g.91338426C>T	ENSP00000261991:p.Val801Ile					RPS6KA5_uc010twi.1_Missense_Mutation_p.V722I	p.V801I	NM_004755	NP_004746	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	17	2616	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	801	VA -> ELRHGRSDQ (in Ref. 3; AAC69577).				O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	c.2401G>A	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836505	0.32421	.	.	ENSG00000100784	ENST00000261991;ENST00000536315	T;T	0.67345	-0.26;-0.26	5.17	-0.255	0.12988	.	6.196140	0.00879	N	0.002111	T	0.47060	0.1425	N	0.08118	0	0.49582	D	0.999807	B	0.06786	0.001	B	0.08055	0.003	T	0.20338	-1.0278	10	0.44086	T	0.13	.	6.3482	0.21361	0.0:0.5381:0.1147:0.3472	.	801	O75582	KS6A5_HUMAN	I	801;722	ENSP00000261991:V801I;ENSP00000442803:V722I	ENSP00000261991:V801I	V	-	1	0	RPS6KA5	90408179	0.076000	0.21285	0.016000	0.15963	0.010000	0.07245	0.110000	0.15437	-0.268000	0.09312	-0.137000	0.14449	GTA		0.483	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		54	128	0	0	0	0	54	128				
NPAP1	23742	broad.mit.edu	37	15	24921512	24921512	+	Silent	SNP	G	G	A	rs35737140	byFrequency	TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr15:24921512G>A	ENST00000329468.2	+	1	972	c.498G>A	c.(496-498)ccG>ccA	p.P166P		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	166					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.P166P(1)									ATGAGGATCCGGTGCAGATCG	0.627													G|||	13	0.00259585	0.0	0.0014	5008	,	,		15046	0.0		0.005	False		,,,				2504	0.0072					uc001ywo.2		NA																	1	Substitution - coding silent(1)	p.P166P(1)	central_nervous_system(1)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(496-498)CCG>CCA		hypothetical protein LOC23742		G		1,4405		0,1,2202	43.0	37.0	39.0		498	-3.2	0.0	15	dbSNP_126	39	38,8562		0,38,4262	no	coding-synonymous	C15orf2	NM_018958.2		0,39,6464	AA,AG,GG		0.4419,0.0227,0.2999		166/1157	24921512	39,12967	2203	4300	6503	SO:0001819	synonymous_variant	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921512G>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.498G>A	15.37:g.24921512G>A							p.P166P	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	972	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	166						Silent	SNP	ENST00000329468.2	37	c.498G>A	CCDS10015.1																																																																																				0.627	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		3	74	0	0	0	0	3	74				
NPAP1	23742	broad.mit.edu	37	15	24922597	24922597	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr15:24922597C>T	ENST00000329468.2	+	1	2057	c.1583C>T	c.(1582-1584)tCc>tTc	p.S528F		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	528	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CCTCCTCTTTCCTTCCTGACT	0.532																																						uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(1582-1584)TCC>TTC		hypothetical protein LOC23742							198.0	202.0	201.0					15																	24922597		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24922597C>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1583C>T	15.37:g.24922597C>T	ENSP00000333735:p.Ser528Phe						p.S528F	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	2057	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	528			Pro-rich.			Missense_Mutation	SNP	ENST00000329468.2	37	c.1583C>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	9.614	1.131958	0.21041	.	.	ENSG00000185823	ENST00000329468	T	0.08102	3.13	2.15	-3.57	0.04612	.	2.482040	0.01993	N	0.045687	T	0.04770	0.0129	N	0.05078	-0.115	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.40646	-0.9552	10	0.46703	T	0.11	.	8.2963	0.31986	0.0:0.7527:0.0:0.2473	.	528	Q9NZP6	CO002_HUMAN	F	528	ENSP00000333735:S528F	ENSP00000333735:S528F	S	+	2	0	C15orf2	22473690	0.000000	0.05858	0.000000	0.03702	0.631000	0.37964	-1.530000	0.02221	-0.988000	0.03489	0.205000	0.17691	TCC		0.532	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		99	293	0	0	0	0	99	293				
MNS1	55329	broad.mit.edu	37	15	56748614	56748614	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr15:56748614T>C	ENST00000260453.3	-	3	495	c.331A>G	c.(331-333)Agg>Ggg	p.R111G		NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	111	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		ACTTGTTGCCTCATCTTTTCG	0.333																																						uc002adr.2		NA																	0				ovary(1)	1						c.(331-333)AGG>GGG		meiosis-specific nuclear structural 1							204.0	183.0	190.0					15																	56748614		2191	4292	6483	SO:0001583	missense	55329				meiosis			g.chr15:56748614T>C	AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"""spermatogenesis associated 40"""	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.331A>G	15.37:g.56748614T>C	ENSP00000260453:p.Arg111Gly					MNS1_uc010bfo.2_5'UTR	p.R111G	NM_018365	NP_060835	Q8NEH6	MNS1_HUMAN		all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)	3	496	-			111			Potential.|Glu-rich.		Q8IYT6|Q9NUP4	Missense_Mutation	SNP	ENST00000260453.3	37	c.331A>G	CCDS10158.1	.	.	.	.	.	.	.	.	.	.	T	19.35	3.810103	0.70797	.	.	ENSG00000138587	ENST00000260453	T	0.20200	2.09	5.87	3.37	0.38596	.	0.000000	0.85682	D	0.000000	T	0.43299	0.1241	M	0.74258	2.255	0.39633	D	0.970202	D	0.89917	1.0	D	0.73380	0.98	T	0.47071	-0.9145	10	0.72032	D	0.01	-14.3925	11.0701	0.47997	0.0:0.0:0.2938:0.7062	.	111	Q8NEH6	MNS1_HUMAN	G	111	ENSP00000260453:R111G	ENSP00000260453:R111G	R	-	1	2	MNS1	54535906	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.363000	0.52321	1.118000	0.41863	0.533000	0.62120	AGG		0.333	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	NM_018365		3	95	0	0	0	0	3	95				
MAPK8IP3	23162	broad.mit.edu	37	16	1812698	1812698	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr16:1812698G>A	ENST00000250894.4	+	15	1847	c.1690G>A	c.(1690-1692)Gtc>Atc	p.V564I	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.V558I	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	564					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GCACCCATCCGTCCAGGAGAA	0.662																																						uc002cmk.2		NA																	0				breast(2)|central_nervous_system(1)	3						c.(1690-1692)GTC>ATC		mitogen-activated protein kinase 8 interacting							91.0	104.0	99.0					16																	1812698		2037	4170	6207	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1812698G>A	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.1690G>A	16.37:g.1812698G>A	ENSP00000250894:p.Val564Ile					MAPK8IP3_uc002cml.2_Missense_Mutation_p.V558I|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.V565I	p.V564I	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN			15	1810	+			564					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.1690G>A	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922452	0.33908	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.17528	2.27;2.27	5.89	3.96	0.45880	.	0.185612	0.47455	D	0.000224	T	0.13970	0.0338	L	0.32530	0.975	0.44677	D	0.997663	B;B;B	0.17667	0.007;0.023;0.012	B;B;B	0.11329	0.003;0.005;0.006	T	0.03933	-1.0991	10	0.40728	T	0.16	-40.2184	12.3214	0.54987	0.1374:0.0:0.8626:0.0	.	565;558;564	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	I	564;558	ENSP00000250894:V564I;ENSP00000348290:V558I	ENSP00000250894:V564I	V	+	1	0	MAPK8IP3	1752699	1.000000	0.71417	0.064000	0.19789	0.966000	0.64601	3.924000	0.56476	0.851000	0.35264	0.655000	0.94253	GTC		0.662	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		81	165	0	0	0	0	81	165				
CREBBP	1387	broad.mit.edu	37	16	3786099	3786099	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr16:3786099G>C	ENST00000262367.5	-	28	5475	c.4666C>G	c.(4666-4668)Cta>Gta	p.L1556V	CREBBP_ENST00000382070.3_Missense_Mutation_p.L1518V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1556	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.|Poly-Glu.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCTTGTTCTAGTTCCTTAATG	0.478			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2		NA		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		0				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(4666-4668)CTA>GTA		CREB binding protein isoform a							292.0	220.0	244.0					16																	3786099		2197	4300	6497	SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3786099G>C	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4666C>G	16.37:g.3786099G>C	ENSP00000262367:p.Leu1556Val					CREBBP_uc002cvw.2_Missense_Mutation_p.L1518V	p.L1556V	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	28	4870	-		Ovarian(90;0.0266)	1556			Poly-Glu.|Interaction with TRERF1.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4666C>G	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	16.73	3.203388	0.58234	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.95137	-3.62;-3.62	5.36	3.38	0.38709	.	0.000000	0.56097	D	0.000033	D	0.96969	0.9010	M	0.86651	2.83	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.79108	0.992;0.992	D	0.96848	0.9623	10	0.62326	D	0.03	-16.6448	10.9022	0.47058	0.1527:0.0:0.8473:0.0	.	1586;1556	Q4LE28;Q92793	.;CBP_HUMAN	V	1556;1586;1518;145	ENSP00000262367:L1556V;ENSP00000371502:L1518V	ENSP00000262367:L1556V	L	-	1	2	CREBBP	3726100	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	2.431000	0.44775	1.388000	0.46506	0.555000	0.69702	CTA		0.478	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		50	107	0	0	0	0	50	107				
ANKS3	124401	broad.mit.edu	37	16	4747373	4747373	+	Missense_Mutation	SNP	C	C	T	rs187743929	byFrequency	TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr16:4747373C>T	ENST00000304283.4	-	16	2149	c.1855G>A	c.(1855-1857)Gag>Aag	p.E619K	ANKS3_ENST00000585773.1_Missense_Mutation_p.E546K|ANKS3_ENST00000446014.2_Missense_Mutation_p.E490K	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	619										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						CCCGAGAGCTCGGGGAGGCTC	0.657													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18311	0.0		0.0	False		,,,				2504	0.0					uc002cxj.1		NA																	0					0						c.(1855-1857)GAG>AAG		ankyrin repeat and sterile alpha motif domain		C	LYS/GLU,LYS/GLU	1,4393	2.1+/-5.4	0,1,2196	68.0	71.0	70.0		1534,1855	3.2	0.4	16		70	0,8600		0,0,4300	yes	missense,missense	ANKS3	NM_001242929.1,NM_133450.3	56,56	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging,probably-damaging	512/550,619/657	4747373	1,12993	2197	4300	6497	SO:0001583	missense	124401							g.chr16:4747373C>T	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.1855G>A	16.37:g.4747373C>T	ENSP00000304586:p.Glu619Lys					ANKS3_uc010uxr.1_Missense_Mutation_p.E142K|ANKS3_uc002cxh.1_RNA|ANKS3_uc002cxi.1_Missense_Mutation_p.E546K|ANKS3_uc002cxk.2_Missense_Mutation_p.E490K|ANKS3_uc002cxl.2_Missense_Mutation_p.E446K|ANKS3_uc010uxs.1_Missense_Mutation_p.E546K	p.E619K	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN			16	2150	-			619					B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	37	c.1855G>A	CCDS10520.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	15.70	2.912095	0.52439	2.28E-4	0.0	ENSG00000168096	ENST00000304283;ENST00000446014	T;T	0.41065	1.01;2.72	5.24	3.25	0.37280	.	0.059195	0.64402	D	0.000004	T	0.40862	0.1134	M	0.76574	2.34	0.80722	D	1	P	0.45428	0.858	B	0.35655	0.207	T	0.49051	-0.8979	10	0.87932	D	0	0.441	13.129	0.59371	0.0:0.6937:0.3063:0.0	.	619	Q6ZW76	ANKS3_HUMAN	K	619;490	ENSP00000304586:E619K;ENSP00000406796:E490K	ENSP00000304586:E619K	E	-	1	0	ANKS3	4687374	0.299000	0.24426	0.423000	0.26634	0.474000	0.32979	1.125000	0.31332	0.567000	0.29293	0.462000	0.41574	GAG		0.657	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		48	119	0	0	0	0	48	119				
SEPT12	124404	broad.mit.edu	37	16	4833975	4833975	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr16:4833975G>A	ENST00000268231.8	-	5	732	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	SEPT12_ENST00000396693.5_Intron|SEPT12_ENST00000591861.1_5'Flank	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	157	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CAGTGCACCCGGGTGTCTGGG	0.637																																						uc002cxq.2		NA																	0				skin(1)	1						c.(469-471)CGG>TGG		septin 12 isoform 2							144.0	131.0	136.0					16																	4833975		2197	4300	6497	SO:0001583	missense	124404				cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	g.chr16:4833975G>A	AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"""Septins"""	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.469C>T	16.37:g.4833975G>A	ENSP00000268231:p.Arg157Trp					SEPT12_uc002cxr.2_Intron|SEPT12_uc010bty.2_RNA	p.R157W	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN			5	610	-			157					Q0P6B0|Q1PBH0|Q96LL0	Missense_Mutation	SNP	ENST00000268231.8	37	c.469C>T	CCDS10522.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.563883	0.65651	.	.	ENSG00000140623	ENST00000268231	T	0.69926	-0.44	4.53	4.53	0.55603	.	0.061468	0.64402	D	0.000003	D	0.88775	0.6528	H	0.98542	4.26	0.54753	D	0.999986	D	0.89917	1.0	D	0.97110	1.0	D	0.93163	0.6559	10	0.87932	D	0	.	16.0093	0.80385	0.0:0.0:1.0:0.0	.	157	Q8IYM1	SEP12_HUMAN	W	157	ENSP00000268231:R157W	ENSP00000268231:R157W	R	-	1	2	SEPT12	4773976	1.000000	0.71417	0.985000	0.45067	0.596000	0.36781	1.362000	0.34148	2.377000	0.81083	0.313000	0.20887	CGG		0.637	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251645.2	NM_144605		49	133	0	0	0	0	49	133				
ARHGAP17	55114	broad.mit.edu	37	16	24971270	24971270	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr16:24971270T>G	ENST00000289968.6	-	8	673	c.604A>C	c.(604-606)Atg>Ctg	p.M202L	ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000441763.2_Missense_Mutation_p.M202L|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.M202L	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	202	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TCTTTGGCCATAAAGTTGTAC	0.363																																						uc002dnb.2		NA																	0					0						c.(604-606)ATG>CTG		nadrin isoform 1							117.0	117.0	117.0					16																	24971270		2197	4300	6497	SO:0001583	missense	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24971270T>G	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.604A>C	16.37:g.24971270T>G	ENSP00000289968:p.Met202Leu					ARHGAP17_uc002dna.2_5'Flank|ARHGAP17_uc002dnc.2_Missense_Mutation_p.M202L|ARHGAP17_uc010vcf.1_Missense_Mutation_p.M23L|ARHGAP17_uc002dnf.2_Missense_Mutation_p.M110L|ARHGAP17_uc002dng.1_Missense_Mutation_p.M202L	p.M202L	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	8	697	-			202			BAR.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	c.604A>C	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.148725	0.37923	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000441763;ENST00000455311	T;T;T	0.60920	0.15;0.15;0.15	5.67	4.55	0.56014	BAR (3);	0.125441	0.36444	N	0.002599	T	0.31451	0.0797	N	0.10916	0.065	0.27802	N	0.942449	B;B;B;B	0.21753	0.012;0.06;0.017;0.06	B;B;B;B	0.20384	0.008;0.029;0.005;0.029	T	0.07790	-1.0754	10	0.23302	T	0.38	.	4.387	0.11321	0.0:0.2361:0.0:0.7639	.	202;202;202;202	Q68EM7-4;C9IZD3;Q68EM7-2;Q68EM7	.;.;.;RHG17_HUMAN	L	202	ENSP00000289968:M202L;ENSP00000303130:M202L;ENSP00000406950:M202L	ENSP00000289968:M202L	M	-	1	0	ARHGAP17	24878771	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.331000	0.33793	2.153000	0.67306	0.477000	0.44152	ATG		0.363	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		35	106	0	0	0	0	35	106				
E2F4	1874	broad.mit.edu	37	16	67228755	67228755	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr16:67228755C>T	ENST00000379378.3	+	6	739	c.680C>T	c.(679-681)cCt>cTt	p.P227L		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	227					blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		ACACCTCCACCTCTGCCCAAG	0.597																																						uc002erz.2		NA																	0				central_nervous_system(1)	1						c.(679-681)CCT>CTT		E2F transcription factor 4							117.0	106.0	110.0					16																	67228755		2198	4300	6498	SO:0001583	missense	1874				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr16:67228755C>T	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.680C>T	16.37:g.67228755C>T	ENSP00000368686:p.Pro227Leu						p.P227L	NM_001950	NP_001941	Q16254	E2F4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)	6	743	+		Ovarian(137;0.0563)	227					A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	37	c.680C>T	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	C	6.996	0.553860	0.13374	.	.	ENSG00000205250	ENST00000379378	D	0.84944	-1.92	5.91	1.38	0.22167	.	0.475526	0.25741	N	0.028615	T	0.71762	0.3378	L	0.29908	0.895	0.35650	D	0.811704	B	0.06786	0.001	B	0.04013	0.001	T	0.62609	-0.6818	10	0.28530	T	0.3	-1.6327	5.5648	0.17165	0.1726:0.5812:0.0:0.2462	.	227	Q16254	E2F4_HUMAN	L	227	ENSP00000368686:P227L	ENSP00000368686:P227L	P	+	2	0	E2F4	65786256	0.259000	0.24043	0.994000	0.49952	0.308000	0.27856	2.038000	0.41184	0.426000	0.26116	0.655000	0.94253	CCT		0.597	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		48	95	0	0	0	0	48	95				
CDH1	999	broad.mit.edu	37	16	68853291	68853291	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr16:68853291C>A	ENST00000261769.5	+	11	1865	c.1674C>A	c.(1672-1674)aaC>aaA	p.N558K	CDH1_ENST00000562836.1_3'UTR|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Missense_Mutation_p.N497K	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	558	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		ACGTGAAGAACAGCACGTACA	0.537			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													uc002ewg.1		NA	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	Mis|N|F|S	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	lobular breast|gastric		1	Unknown(1)		breast(1)	breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243						c.(1672-1674)AAC>AAA		cadherin 1, type 1 preproprotein							113.0	90.0	98.0					16																	68853291		2198	4300	6498	SO:0001583	missense	999	Hereditary_Diffuse_Gastric_Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68853291C>A	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1674C>A	16.37:g.68853291C>A	ENSP00000261769:p.Asn558Lys					CDH1_uc010vlj.1_Intron|CDH1_uc010cfg.1_Missense_Mutation_p.N497K	p.N558K	NM_004360	NP_004351	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	11	1798	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	558			Extracellular (Potential).|Cadherin 4.		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	c.1674C>A	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703807	0.48412	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.57595	0.45;0.39	5.55	1.43	0.22495	Cadherin (4);Cadherin-like (1);	0.000000	0.56097	D	0.000037	T	0.65080	0.2657	L	0.61218	1.895	0.49798	D	0.999821	D;D	0.89917	0.997;1.0	D;D	0.81914	0.98;0.995	T	0.64317	-0.6436	10	0.62326	D	0.03	.	10.2053	0.43109	0.0:0.726:0.0:0.274	.	497;558	Q9UII8;P12830	.;CADH1_HUMAN	K	558;576;558;497	ENSP00000261769:N558K;ENSP00000414946:N497K	ENSP00000261769:N558K	N	+	3	2	CDH1	67410792	0.954000	0.32549	1.000000	0.80357	0.268000	0.26511	0.182000	0.16900	0.318000	0.23185	0.555000	0.69702	AAC		0.537	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		4	101	1	0	0.00909568	0.00931271	4	101				
ZNF778	197320	broad.mit.edu	37	16	89293174	89293174	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr16:89293174C>T	ENST00000433976.2	+	6	726	c.394C>T	c.(394-396)Ctc>Ttc	p.L132F	ZNF778_ENST00000306502.6_Missense_Mutation_p.L90F|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	132					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		ACACTCAGGCCTCAGCACACA	0.463																																						uc002fmv.2		NA																	0					0						c.(394-396)CTC>TTC		zinc finger protein 778							73.0	76.0	75.0					16																	89293174		2078	4245	6323	SO:0001583	missense	197320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89293174C>T	AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"""Zinc fingers, C2H2-type"", ""-"""	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.394C>T	16.37:g.89293174C>T	ENSP00000405289:p.Leu132Phe					ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Missense_Mutation_p.L90F|ZNF778_uc010vpg.1_5'UTR	p.L132F	NM_182531	NP_872337	Q96MU6	ZN778_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0269)	6	733	+			132			C2H2-type 1; degenerate.		Q08AG0	Missense_Mutation	SNP	ENST00000433976.2	37	c.394C>T	CCDS45550.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.403253	0.25291	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	T;T	0.55588	0.51;0.51	1.21	0.185	0.15096	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.40222	0.1108	L	0.46670	1.46	0.09310	N	1	B;B	0.18968	0.032;0.019	B;B	0.08055	0.003;0.001	T	0.29397	-1.0013	9	0.42905	T	0.14	.	5.29	0.15721	0.0:0.7761:0.0:0.2239	.	90;132	Q96MU6-2;Q96MU6	.;ZN778_HUMAN	F	132;90	ENSP00000405289:L132F;ENSP00000305203:L90F	ENSP00000305203:L90F	L	+	1	0	ZNF778	87820675	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.067000	0.14510	0.082000	0.17018	0.460000	0.39030	CTC		0.463	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531		15	37	0	0	0	0	15	37				
NUP88	4927	broad.mit.edu	37	17	5312067	5312067	+	Silent	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr17:5312067G>A	ENST00000573584.1	-	5	1352	c.843C>T	c.(841-843)atC>atT	p.I281I		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	281					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)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						GTAACAGACTGATGTATGTCA	0.438																																						uc002gbo.1		NA																	0				kidney(1)	1						c.(841-843)ATC>ATT		nucleoporin 88kDa							125.0	112.0	117.0					17																	5312067		2203	4300	6503	SO:0001819	synonymous_variant	4927				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity	g.chr17:5312067G>A	Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"""nucleoporin 88kD"""			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.843C>T	17.37:g.5312067G>A						NUP88_uc010vsx.1_Silent_p.I281I|NUP88_uc010cle.1_Silent_p.I280I|NUP88_uc010vsy.1_Silent_p.I281I	p.I281I	NM_002532	NP_002523	Q99567	NUP88_HUMAN			5	869	-			281					D3DTM2|Q9BWE5	Silent	SNP	ENST00000573584.1	37	c.843C>T	CCDS11070.1																																																																																				0.438	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532		86	64	0	0	0	0	86	64				
PHF23	79142	broad.mit.edu	37	17	7139299	7139299	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr17:7139299G>A	ENST00000320316.3	-	4	1173	c.947C>T	c.(946-948)tCc>tTc	p.S316F	PHF23_ENST00000571362.1_Missense_Mutation_p.S249F|DVL2_ENST00000575458.1_5'Flank|PHF23_ENST00000570753.1_5'Flank|PHF23_ENST00000454255.2_Missense_Mutation_p.S312F|PHF23_ENST00000576955.1_Missense_Mutation_p.S186F|DVL2_ENST00000005340.5_5'Flank	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	316							zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GCCTTCACTGGAGCTGGCATC	0.587																																						uc002gfa.2		NA																	0					0						c.(946-948)TCC>TTC		PHD finger protein 23							272.0	281.0	278.0					17																	7139299		2086	4219	6305	SO:0001583	missense	79142						zinc ion binding	g.chr17:7139299G>A	AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"""Zinc fingers, PHD-type"""	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.947C>T	17.37:g.7139299G>A	ENSP00000322579:p.Ser316Phe					DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.1_Missense_Mutation_p.S249F|PHF23_uc010cma.2_Missense_Mutation_p.S186F	p.S316F	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN			4	1174	-			316					A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Missense_Mutation	SNP	ENST00000320316.3	37	c.947C>T	CCDS42250.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704315	0.68615	.	.	ENSG00000040633	ENST00000320316;ENST00000454255	T;T	0.33654	1.42;1.4	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.43875	0.1267	N	0.24115	0.695	0.58432	D	0.999991	D;D	0.67145	0.996;0.99	D;P	0.72075	0.976;0.767	T	0.43278	-0.9401	10	0.66056	D	0.02	-10.8049	12.4435	0.55637	0.0:0.0:1.0:0.0	.	249;316	B4DLK6;Q9BUL5	.;PHF23_HUMAN	F	316;312	ENSP00000322579:S316F;ENSP00000414607:S312F	ENSP00000322579:S316F	S	-	2	0	PHF23	7080023	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.827000	0.69300	2.298000	0.77334	0.313000	0.20887	TCC		0.587	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440047.1	NM_024297		416	274	0	0	0	0	416	274				
TP53	7157	broad.mit.edu	37	17	7577507	7577507	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr17:7577507T>A	ENST00000269305.4	-	7	963	c.774A>T	c.(772-774)gaA>gaT	p.E258D	TP53_ENST00000359597.4_Missense_Mutation_p.E258D|TP53_ENST00000455263.2_Missense_Mutation_p.E258D|TP53_ENST00000413465.2_Missense_Mutation_p.E258D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.E258D|TP53_ENST00000420246.2_Missense_Mutation_p.E258D	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	258	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1978757}.|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E258D(9)|p.0?(8)|p.D259fs*5(1)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.D259fs*86(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.E258del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACCTGGAGTCTTCCAGTGTGA	0.577		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		25	Substitution - Missense(9)|Whole gene deletion(8)|Deletion - Frameshift(4)|Deletion - In frame(2)|Insertion - Frameshift(1)|Unknown(1)	p.E258K(37)|p.E258*(12)|p.E258Q(8)|p.E258D(8)|p.0?(7)|p.E258G(7)|p.E258V(5)|p.E258A(5)|p.D259fs*5(1)|p.?(1)|p.E258fs*85(1)|p.E258>XX(1)|p.E258fs*71(1)|p.D259fs*86(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.E258del(1)|p.E258L(1)|p.E258fs*87(1)	large_intestine(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(2)|oesophagus(2)|lung(2)|ovary(2)|stomach(1)|breast(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(772-774)GAA>GAT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							136.0	96.0	110.0					17																	7577507		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577507T>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.774A>T	17.37:g.7577507T>A	ENSP00000269305:p.Glu258Asp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.E258D|TP53_uc002gih.2_Missense_Mutation_p.E258D|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E126D|TP53_uc010cng.1_Missense_Mutation_p.E126D|TP53_uc002gii.1_Missense_Mutation_p.E126D|TP53_uc010cnh.1_Missense_Mutation_p.E258D|TP53_uc010cni.1_Missense_Mutation_p.E258D|TP53_uc002gij.2_Missense_Mutation_p.E258D|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.E165D|TP53_uc002gio.2_Missense_Mutation_p.E126D	p.E258D	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	968	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	258		E -> Q (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> A (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> D (in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.774A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	16.44	3.123100	0.56613	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99853	-7.18;-7.18;-7.18;-7.18;-7.18;-7.18;-7.18	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99866	0.9937	M	0.92367	3.3	0.53005	D	0.999966	D;D;D;D;D	0.89917	0.963;0.996;0.97;0.97;1.0	P;D;D;P;D	0.85130	0.826;0.99;0.924;0.891;0.997	D	0.96709	0.9524	10	0.87932	D	0	-21.9865	10.6082	0.45406	0.0:0.0:0.0:1.0	.	258;258;258;258;258	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	D	258;258;258;258;258;258;247;126	ENSP00000410739:E258D;ENSP00000352610:E258D;ENSP00000269305:E258D;ENSP00000398846:E258D;ENSP00000391127:E258D;ENSP00000391478:E258D;ENSP00000425104:E126D	ENSP00000269305:E258D	E	-	3	2	TP53	7518232	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	0.718000	0.25866	2.074000	0.62210	0.379000	0.24179	GAA		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	31	0	0	0	0	31	31				
CNTROB	116840	broad.mit.edu	37	17	7836476	7836476	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr17:7836476C>T	ENST00000563694.1	+	1	1004	c.79C>T	c.(79-81)Ctc>Ttc	p.L27F	CNTROB_ENST00000380255.3_Missense_Mutation_p.L27F|CNTROB_ENST00000565740.1_Missense_Mutation_p.L27F|CNTROB_ENST00000380262.3_Missense_Mutation_p.L27F|TRAPPC1_ENST00000540486.1_5'Flank|TRAPPC1_ENST00000303731.4_5'Flank|RP11-1099M24.7_ENST00000573621.1_5'Flank	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	27					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				ACCCCCTGGGCTCAACCAAGT	0.597																																						uc002gjq.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(79-81)CTC>TTC		centrobin, centrosomal BRCA2 interacting protein							102.0	107.0	105.0					17																	7836476		2203	4300	6503	SO:0001583	missense	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7836476C>T	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.79C>T	17.37:g.7836476C>T	ENSP00000456335:p.Leu27Phe					TRAPPC1_uc002gjo.1_5'Flank|CNTROB_uc002gjp.2_Missense_Mutation_p.L27F|CNTROB_uc002gjr.2_5'Flank	p.L27F	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN			2	998	+		Prostate(122;0.173)	27					A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	c.79C>T	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070883	0.76301	.	.	ENSG00000170037	ENST00000380262;ENST00000380255	T;T	0.48836	1.37;0.8	5.14	4.16	0.48862	.	0.240961	0.21625	N	0.071579	T	0.48429	0.1499	N	0.24115	0.695	0.32166	N	0.582248	D;D	0.76494	0.99;0.999	P;D	0.83275	0.836;0.996	T	0.49606	-0.8922	10	0.15499	T	0.54	-12.1254	8.7967	0.34883	0.0:0.8927:0.0:0.1073	.	27;27	Q8N137;Q8N137-2	CNTRB_HUMAN;.	F	27	ENSP00000369614:L27F;ENSP00000369605:L27F	ENSP00000369605:L27F	L	+	1	0	CNTROB	7777201	1.000000	0.71417	1.000000	0.80357	0.619000	0.37552	1.099000	0.31013	1.118000	0.41863	0.563000	0.77884	CTC		0.597	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		163	127	0	0	0	0	163	127				
STX8	9482	broad.mit.edu	37	17	9395196	9395196	+	Missense_Mutation	SNP	C	C	T	rs143935601		TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr17:9395196C>T	ENST00000306357.4	-	6	918	c.491G>A	c.(490-492)cGc>cAc	p.R164H	STX8_ENST00000574431.1_Missense_Mutation_p.R53H	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8	164	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|transport (GO:0006810)|vesicle fusion (GO:0006906)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						TTGTTTTTGGCGACTTATGAT	0.363																																						uc002glx.2		NA																	0				central_nervous_system(1)	1						c.(490-492)CGC>CAC		syntaxin 8		C	HIS/ARG	0,4406		0,0,2203	202.0	188.0	193.0		491	4.9	1.0	17	dbSNP_134	193	1,8599	1.2+/-3.3	0,1,4299	no	missense	STX8	NM_004853.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	164/237	9395196	1,13005	2203	4300	6503	SO:0001583	missense	9482				transport	endoplasmic reticulum|integral to plasma membrane		g.chr17:9395196C>T	AF115323	CCDS32565.1	17p13.1	2012-05-25			ENSG00000170310	ENSG00000170310			11443	protein-coding gene	gene with protein product		604203				9852078, 10198254	Standard	NM_004853		Approved	CARB	uc002glx.3	Q9UNK0	OTTHUMG00000177844	ENST00000306357.4:c.491G>A	17.37:g.9395196C>T	ENSP00000305255:p.Arg164His						p.R164H	NM_004853	NP_004844	Q9UNK0	STX8_HUMAN			6	641	-			164			t-SNARE coiled-coil homology.|Cytoplasmic (Potential).		O60712|Q53XT8	Missense_Mutation	SNP	ENST00000306357.4	37	c.491G>A	CCDS32565.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597530	0.87055	0.0	1.16E-4	ENSG00000170310	ENST00000306357	.	.	.	5.88	4.92	0.64577	Target SNARE coiled-coil domain (3);	0.058607	0.64402	D	0.000003	D	0.84772	0.5546	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88063	0.2795	9	0.72032	D	0.01	-12.1627	13.816	0.63292	0.0:0.9257:0.0:0.0743	.	164	Q9UNK0	STX8_HUMAN	H	164	.	ENSP00000305255:R164H	R	-	2	0	STX8	9335921	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	6.436000	0.73417	1.502000	0.48669	0.591000	0.81541	CGC		0.363	STX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439206.3	NM_004853		109	117	0	0	0	0	109	117				
MYH4	4622	broad.mit.edu	37	17	10356164	10356164	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr17:10356164G>A	ENST00000255381.2	-	25	3307	c.3197C>T	c.(3196-3198)gCc>gTc	p.A1066V	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1066					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGATTCTTGGGCCAATTTTAG	0.363																																						uc002gmn.2		NA																	0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.(3196-3198)GCC>GTC		myosin, heavy polypeptide 4, skeletal muscle							215.0	203.0	207.0					17																	10356164		2203	4299	6502	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10356164G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3197C>T	17.37:g.10356164G>A	ENSP00000255381:p.Ala1066Val					uc002gml.1_Intron	p.A1066V	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			25	3308	-			1066			Potential.			Missense_Mutation	SNP	ENST00000255381.2	37	c.3197C>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076108	0.55646	.	.	ENSG00000141048	ENST00000255381	D	0.91011	-2.77	5.42	4.45	0.53987	.	0.000000	0.37178	U	0.002217	D	0.90672	0.7074	M	0.72118	2.19	0.50039	D	0.999848	B	0.20550	0.046	B	0.30716	0.119	D	0.89189	0.3549	10	0.87932	D	0	.	14.7522	0.69533	0.0701:0.0:0.9299:0.0	.	1066	Q9Y623	MYH4_HUMAN	V	1066	ENSP00000255381:A1066V	ENSP00000255381:A1066V	A	-	2	0	MYH4	10296889	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.573000	0.74009	1.432000	0.47375	-0.222000	0.12452	GCC		0.363	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		143	145	0	0	0	0	143	145				
MPP2	4355	broad.mit.edu	37	17	41958711	41958711	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr17:41958711G>A	ENST00000461854.1	-	9	977	c.892C>T	c.(892-894)Cat>Tat	p.H298Y	MPP2_ENST00000269095.4_Missense_Mutation_p.H274Y|MPP2_ENST00000520305.1_Missense_Mutation_p.H135Y|MPP2_ENST00000523501.1_Missense_Mutation_p.H263Y|MPP2_ENST00000377184.3_Missense_Mutation_p.H291Y|MPP2_ENST00000536246.1_Missense_Mutation_p.H263Y|MPP2_ENST00000473246.1_5'Flank|MPP2_ENST00000518766.1_Missense_Mutation_p.H319Y			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	298	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CCTTCGACATGGCATGCCTAA	0.597											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010wip.1		NA																	0					0						c.(955-957)CAT>TAT		palmitoylated membrane protein 2							82.0	83.0	83.0					17																	41958711		2203	4300	6503	SO:0001583	missense	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41958711G>A		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.892C>T	17.37:g.41958711G>A	ENSP00000428286:p.His298Tyr		OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	905	MPP2_uc002ien.1_Missense_Mutation_p.H291Y|MPP2_uc010wim.1_Missense_Mutation_p.H263Y|MPP2_uc002ieo.1_Missense_Mutation_p.H274Y|MPP2_uc010win.1_Missense_Mutation_p.H135Y|MPP2_uc010wio.1_Missense_Mutation_p.H263Y	p.H319Y	NM_005374	NP_005365	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	8	1012	-		Breast(137;0.00314)	298			SH3.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000461854.1	37	c.955C>T		.	.	.	.	.	.	.	.	.	.	g	14.63	2.594116	0.46214	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	T;T;T;T;T;T;T	0.06849	3.25;3.25;3.25;3.25;3.25;3.25;3.25	5.01	5.01	0.66863	.	.	.	.	.	T	0.20047	0.0482	L	0.49126	1.545	0.51482	D	0.999921	D;D	0.63880	0.993;0.973	P;P	0.59825	0.864;0.786	T	0.00121	-1.2028	9	0.44086	T	0.13	.	15.9104	0.79470	0.0:0.0:1.0:0.0	.	319;291	E7EV80;Q14168-3	.;.	Y	291;274;298;135;263;263;319	ENSP00000366389:H291Y;ENSP00000269095:H274Y;ENSP00000428286:H298Y;ENSP00000428136:H135Y;ENSP00000430540:H263Y;ENSP00000438012:H263Y;ENSP00000428182:H319Y	ENSP00000269095:H274Y	H	-	1	0	MPP2	39314237	1.000000	0.71417	0.992000	0.48379	0.010000	0.07245	7.487000	0.81328	2.615000	0.88500	0.555000	0.69702	CAT		0.597	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		111	59	0	0	0	0	111	59				
PSMC5	5705	broad.mit.edu	37	17	61903471	61903471	+	5'Flank	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr17:61903471G>A	ENST00000310144.6	+	0	0				PSMC5_ENST00000375812.4_5'Flank|PSMC5_ENST00000580864.1_5'Flank|FTSJ3_ENST00000580295.1_5'Flank|PSMC5_ENST00000581882.1_5'Flank|FTSJ3_ENST00000427159.2_Missense_Mutation_p.P82L	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						ATTGGGGAGAGGCTTGATTGG	0.468																																						uc002jbz.2		NA																	0				ovary(1)	1						c.(244-246)CCT>CTT		FtsJ homolog 3							138.0	142.0	141.0					17																	61903471		2203	4300	6503	SO:0001631	upstream_gene_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61903471G>A	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195			17.37:g.61903471G>A	Exception_encountered					FTSJ3_uc002jca.2_Missense_Mutation_p.P82L|PSMC5_uc002jcb.2_5'Flank|PSMC5_uc010ddy.2_5'Flank|PSMC5_uc010ddz.2_5'Flank|PSMC5_uc002jcc.2_5'Flank|PSMC5_uc002jcd.2_5'Flank	p.P82L	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN			4	323	-			82					A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Missense_Mutation	SNP	ENST00000310144.6	37	c.245C>T	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032661	0.54790	.	.	ENSG00000108592	ENST00000427159	T	0.36699	1.24	4.74	4.74	0.60224	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	T	0.72293	0.3442	H	0.96662	3.86	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.82323	-0.0514	10	0.87932	D	0	-12.2195	15.5968	0.76590	0.0:0.0:1.0:0.0	.	82	Q8IY81	RRMJ3_HUMAN	L	82	ENSP00000396673:P82L	ENSP00000396673:P82L	P	-	2	0	FTSJ3	59257203	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.554000	0.90689	2.618000	0.88619	0.561000	0.74099	CCT		0.468	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		130	98	0	0	0	0	130	98				
METRNL	284207	broad.mit.edu	37	17	81043036	81043036	+	Silent	SNP	A	A	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr17:81043036A>G	ENST00000320095.7	+	2	518	c.393A>G	c.(391-393)gtA>gtG	p.V131V	METRNL_ENST00000571814.1_Silent_p.V49V|METRNL_ENST00000570778.1_Silent_p.V49V	NM_001004431.1	NP_001004431.1	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	131					brown fat cell differentiation (GO:0050873)|fat cell differentiation (GO:0045444)|negative regulation of inflammatory response (GO:0050728)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of energy homeostasis (GO:2000507)|response to cold (GO:0009409)|response to muscle activity (GO:0014850)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GACTGCTGGTACCAGACGGGG	0.632																																						uc002kgh.2		NA																	0					0						c.(391-393)GTA>GTG		meteorin, glial cell differentiation							40.0	50.0	46.0					17																	81043036		2203	4300	6503	SO:0001819	synonymous_variant	284207					extracellular region		g.chr17:81043036A>G	AK093748	CCDS32779.1	17q25.3	2004-12-01				ENSG00000176845			27584	protein-coding gene	gene with protein product							Standard	NM_001004431		Approved		uc002kgh.3	Q641Q3		ENST00000320095.7:c.393A>G	17.37:g.81043036A>G						METRNL_uc002kgi.2_Silent_p.V49V	p.V131V	NM_001004431	NP_001004431	Q641Q3	METRL_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)		2	518	+	Breast(20;0.000443)|all_neural(118;0.0779)		131					B3KSJ5|Q86VM0	Silent	SNP	ENST00000320095.7	37	c.393A>G	CCDS32779.1																																																																																				0.632	METRNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438902.1	NM_001004431		72	42	0	0	0	0	72	42				
CDH2	1000	broad.mit.edu	37	18	25585828	25585828	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr18:25585828C>G	ENST00000269141.3	-	6	1255	c.832G>C	c.(832-834)Gag>Cag	p.E278Q	CDH2_ENST00000399380.3_Missense_Mutation_p.E247Q	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	278	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTGATCCCTCAGGAACTGTC	0.388																																						uc002kwg.2		NA																	0				ovary(3)|lung(1)	4						c.(832-834)GAG>CAG		cadherin 2, type 1 preproprotein							134.0	130.0	131.0					18																	25585828		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25585828C>G	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.832G>C	18.37:g.25585828C>G	ENSP00000269141:p.Glu278Gln					CDH2_uc010xbn.1_Missense_Mutation_p.E247Q	p.E278Q	NM_001792	NP_001783	P19022	CADH2_HUMAN			6	1291	-			278			Extracellular (Potential).|Cadherin 2.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.832G>C	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008821	0.93346	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.75938	-0.98;-0.98	5.54	5.54	0.83059	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.89653	0.6777	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.75484	0.986;0.985	D	0.91247	0.5026	10	0.87932	D	0	.	19.8377	0.96663	0.0:1.0:0.0:0.0	.	247;278	A8MWK3;P19022	.;CADH2_HUMAN	Q	278;247	ENSP00000269141:E278Q;ENSP00000382312:E247Q	ENSP00000269141:E278Q	E	-	1	0	CDH2	23839826	1.000000	0.71417	0.986000	0.45419	0.965000	0.64279	7.442000	0.80503	2.761000	0.94854	0.655000	0.94253	GAG		0.388	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		48	116	0	0	0	0	48	116				
PIGN	23556	broad.mit.edu	37	18	59777191	59777191	+	Silent	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr18:59777191G>A	ENST00000357637.5	-	17	1865	c.1450C>T	c.(1450-1452)Ctg>Ttg	p.L484L	PIGN_ENST00000400334.3_Silent_p.L484L	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	484					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				CTACAAGGCAGGAGATGGCTT	0.343																																						uc002lii.3		NA																	0				breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5						c.(1450-1452)CTG>TTG		phosphatidylinositol glycan anchor biosynthesis,							90.0	87.0	88.0					18																	59777191		1855	4089	5944	SO:0001819	synonymous_variant	23556				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups	g.chr18:59777191G>A	AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"""Phosphatidylinositol glycan anchor biosynthesis"""	8967	protein-coding gene	gene with protein product		606097	"""phosphatidylinositol glycan, class N"""			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.1450C>T	18.37:g.59777191G>A						PIGN_uc002lij.3_Silent_p.L484L	p.L484L	NM_176787	NP_789744	O95427	PIGN_HUMAN			18	1898	-		Colorectal(73;0.187)	484			Helical; (Potential).		Q7L8F8|Q8TC01|Q9NT05	Silent	SNP	ENST00000357637.5	37	c.1450C>T	CCDS45879.1																																																																																				0.343	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449757.2	NM_176787		3	66	0	0	0	0	3	66				
CDH19	28513	broad.mit.edu	37	18	64239355	64239355	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr18:64239355C>G	ENST00000540086.1	-	2	333	c.87G>C	c.(85-87)aaG>aaC	p.K29N	CDH19_ENST00000262150.2_Missense_Mutation_p.K29N	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GCTTGACTTTCTTTGTTTGAG	0.428																																						uc002lkc.1		NA																	0				ovary(1)|skin(1)	2						c.(85-87)AAG>AAC		cadherin 19, type 2 preproprotein							112.0	101.0	105.0					18																	64239355		2203	4299	6502	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64239355C>G	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.87G>C	18.37:g.64239355C>G	ENSP00000439593:p.Lys29Asn					CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.K29N|CDH19_uc002lkd.2_Missense_Mutation_p.K29N	p.K29N	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			2	225	-		Esophageal squamous(42;0.0132)	29					O15098	Missense_Mutation	SNP	ENST00000540086.1	37	c.87G>C	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	C	7.581	0.668733	0.14776	.	.	ENSG00000071991	ENST00000262150;ENST00000540086	T;T	0.56776	0.44;0.47	5.47	3.43	0.39272	.	2.565220	0.01404	N	0.013728	T	0.37404	0.1002	N	0.19112	0.55	0.09310	N	1	B;B	0.23990	0.095;0.028	B;B	0.20955	0.032;0.014	T	0.26430	-1.0103	10	0.17369	T	0.5	.	5.1357	0.14934	0.3437:0.5061:0.0:0.1502	.	29;29	F5H1K0;Q9H159	.;CAD19_HUMAN	N	29	ENSP00000262150:K29N;ENSP00000439593:K29N	ENSP00000262150:K29N	K	-	3	2	CDH19	62390335	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-0.004000	0.12878	1.243000	0.43853	0.462000	0.41574	AAG		0.428	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		19	39	0	0	0	0	19	39				
NETO1	81832	broad.mit.edu	37	18	70423379	70423379	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr18:70423379G>T	ENST00000327305.6	-	8	1529	c.872C>A	c.(871-873)cCt>cAt	p.P291H	NETO1_ENST00000299430.2_Missense_Mutation_p.P290H|NETO1_ENST00000583169.1_Missense_Mutation_p.P291H	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	291	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GCCTTCACAAGGAGCTAAAAA	0.333																																						uc002lkw.2		NA																	0				ovary(2)|skin(2)	4						c.(871-873)CCT>CAT		neuropilin- and tolloid-like protein 1 isoform 3							83.0	81.0	81.0					18																	70423379		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70423379G>T	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.872C>A	18.37:g.70423379G>T	ENSP00000313088:p.Pro291His					NETO1_uc002lkx.1_Missense_Mutation_p.P290H|NETO1_uc002lky.1_Missense_Mutation_p.P291H	p.P291H	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	8	1156	-		Esophageal squamous(42;0.129)	291			LDL-receptor class A.|Extracellular (Potential).		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.872C>A	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716771	0.89205	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	D;D	0.95412	-3.7;-3.7	5.41	5.41	0.78517	CUB (1);	0.000000	0.52532	D	0.000066	D	0.97343	0.9131	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.97767	1.0224	10	0.87932	D	0	-9.1353	19.571	0.95419	0.0:0.0:1.0:0.0	.	290;291	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	H	291;290	ENSP00000313088:P291H;ENSP00000299430:P290H	ENSP00000299430:P290H	P	-	2	0	NETO1	68574359	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.813000	0.99286	2.709000	0.92574	0.655000	0.94253	CCT		0.333	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		29	50	1	0	4.88e-14	5.41e-14	29	50				
ZNF236	7776	broad.mit.edu	37	18	74631933	74631933	+	Missense_Mutation	SNP	C	C	T	rs542819528	byFrequency	TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr18:74631933C>T	ENST00000253159.8	+	20	3668	c.3470C>T	c.(3469-3471)gCg>gTg	p.A1157V	ZNF236_ENST00000320610.9_Missense_Mutation_p.A1159V	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1157					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GACAAGCAGGCGGAGCTGCAG	0.627													C|||	2	0.000399361	0.0	0.0	5008	,	,		17254	0.0		0.001	False		,,,				2504	0.001					uc002lmi.2		NA																	0				ovary(4)	4						c.(3469-3471)GCG>GTG		zinc finger protein 236							36.0	41.0	39.0					18																	74631933		2159	4260	6419	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74631933C>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.3470C>T	18.37:g.74631933C>T	ENSP00000253159:p.Ala1157Val					ZNF236_uc002lmj.2_RNA	p.A1157V	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	20	3668	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1157					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.3470C>T	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.439111	0.43326	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.10668	2.85;3.01	5.75	5.75	0.90469	.	0.061993	0.64402	D	0.000004	T	0.11153	0.0272	L	0.45137	1.4	0.35475	D	0.797686	B	0.33739	0.422	B	0.25405	0.06	T	0.21109	-1.0255	10	0.19590	T	0.45	.	19.9308	0.97118	0.0:1.0:0.0:0.0	.	1157	Q9UL36	ZN236_HUMAN	V	1157	ENSP00000253159:A1157V;ENSP00000444524:A1157V	ENSP00000253159:A1157V	A	+	2	0	ZNF236	72760921	1.000000	0.71417	0.030000	0.17652	0.537000	0.34900	4.557000	0.60782	2.715000	0.92844	0.585000	0.79938	GCG		0.627	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			13	24	0	0	0	0	13	24				
TBXA2R	6915	broad.mit.edu	37	19	3600302	3600302	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:3600302C>T	ENST00000375190.4	-	2	724	c.331G>A	c.(331-333)Gtc>Atc	p.V111I	TBXA2R_ENST00000589966.1_Missense_Mutation_p.V111I|TBXA2R_ENST00000411851.3_Missense_Mutation_p.V111I|TBXA2R_ENST00000587717.1_5'Flank	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	111					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	AAGATCATGACGACGCCCATG	0.692																																						uc002lyg.1		NA																	0					0						c.(331-333)GTC>ATC		thromboxane A2 receptor isoform alpha	Ridogrel(DB01207)						29.0	36.0	34.0					19																	3600302		2108	4236	6344	SO:0001583	missense	6915				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	g.chr19:3600302C>T		CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"""GPCR / Class A : Prostanoid receptors"""	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.331G>A	19.37:g.3600302C>T	ENSP00000364336:p.Val111Ile					TBXA2R_uc002lye.1_Missense_Mutation_p.V111I	p.V111I	NM_001060	NP_001051	P21731	TA2R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	2	545	-		Hepatocellular(1079;0.137)	111			Helical; Name=3; (Potential).		O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	ENST00000375190.4	37	c.331G>A	CCDS42467.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990782	0.35131	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	T;T	0.36699	1.24;1.24	4.67	-2.07	0.07276	GPCR, rhodopsin-like superfamily (1);	0.622148	0.15176	N	0.276368	T	0.11665	0.0284	N	0.03608	-0.345	0.26254	N	0.978674	B;B	0.14012	0.009;0.008	B;B	0.10450	0.005;0.001	T	0.12528	-1.0544	10	0.45353	T	0.12	-12.4139	0.7088	0.00920	0.2657:0.3553:0.1172:0.2618	.	111;111	P21731;E2QRJ2	TA2R_HUMAN;.	I	111	ENSP00000393333:V111I;ENSP00000364336:V111I	ENSP00000364336:V111I	V	-	1	0	TBXA2R	3551302	0.006000	0.16342	0.426000	0.26672	0.497000	0.33675	0.798000	0.27014	-0.078000	0.12730	-0.643000	0.03959	GTC		0.692	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			13	23	0	0	0	0	13	23				
ACSBG2	81616	broad.mit.edu	37	19	6187796	6187796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:6187796C>T	ENST00000586696.1	+	13	2143	c.1867C>T	c.(1867-1869)Cag>Tag	p.Q623*	ACSBG2_ENST00000588304.1_Nonsense_Mutation_p.Q573*|ACSBG2_ENST00000588485.1_Nonsense_Mutation_p.Q436*|ACSBG2_ENST00000591403.1_Nonsense_Mutation_p.Q623*|RFX2_ENST00000587700.1_5'Flank|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000252669.5_Nonsense_Mutation_p.Q623*			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	623					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAACAATGCACAGAGGATTGA	0.507																																						uc002mef.1		NA																	0				ovary(1)	1						c.(1867-1869)CAG>TAG		bubblegum-related acyl-CoA synthetase 2							187.0	167.0	174.0					19																	6187796		2203	4300	6503	SO:0001587	stop_gained	81616				cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity	g.chr19:6187796C>T		CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.1867C>T	19.37:g.6187796C>T	ENSP00000465589:p.Gln623*					ACSBG2_uc002mee.1_Nonsense_Mutation_p.Q436*|ACSBG2_uc002meg.1_Nonsense_Mutation_p.Q623*|ACSBG2_uc002meh.1_Nonsense_Mutation_p.Q623*|ACSBG2_uc002mei.1_Nonsense_Mutation_p.Q573*|ACSBG2_uc010xiz.1_Nonsense_Mutation_p.Q595*	p.Q623*	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN			13	2094	+			623					B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Nonsense_Mutation	SNP	ENST00000586696.1	37	c.1867C>T	CCDS12159.1	.	.	.	.	.	.	.	.	.	.	C	37	6.100230	0.97281	.	.	ENSG00000130377	ENST00000252669	.	.	.	5.46	4.4	0.53042	.	0.314907	0.23354	N	0.049089	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-15.0098	14.7976	0.69889	0.0:0.8549:0.1451:0.0	.	.	.	.	X	623	.	ENSP00000252669:Q623X	Q	+	1	0	ACSBG2	6138796	1.000000	0.71417	0.025000	0.17156	0.083000	0.17756	4.547000	0.60712	1.269000	0.44280	0.655000	0.94253	CAG		0.507	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924		54	159	0	0	0	0	54	159				
ZNF266	10781	broad.mit.edu	37	19	9524051	9524051	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:9524051T>C	ENST00000592904.1	-	5	3626	c.1550A>G	c.(1549-1551)gAg>gGg	p.E517G	ZNF266_ENST00000588221.1_Missense_Mutation_p.E517G|ZNF266_ENST00000590306.1_Missense_Mutation_p.E517G|ZNF266_ENST00000361151.1_Missense_Mutation_p.E517G|ZNF266_ENST00000361451.2_Missense_Mutation_p.E517G|ZNF266_ENST00000592292.1_Missense_Mutation_p.E517G|ZNF266_ENST00000588933.1_Missense_Mutation_p.E517G			Q14584	ZN266_HUMAN	zinc finger protein 266	517					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						ATAGGGTTTCTCTCCAGTGTG	0.438																																						uc002mll.2		NA																	0				ovary(1)	1						c.(1549-1551)GAG>GGG		zinc finger protein 266							93.0	76.0	82.0					19																	9524051		2203	4300	6503	SO:0001583	missense	10781				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9524051T>C	X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.1550A>G	19.37:g.9524051T>C	ENSP00000466714:p.Glu517Gly					ZNF266_uc002mlm.2_Missense_Mutation_p.E517G|ZNF266_uc002mln.2_Missense_Mutation_p.E517G|ZNF266_uc002mlo.2_Missense_Mutation_p.E517G|ZNF266_uc010dwp.2_Missense_Mutation_p.E517G|ZNF266_uc010dwq.2_Missense_Mutation_p.E517G	p.E517G	NM_198058	NP_932175	Q14584	ZN266_HUMAN			4	1816	-			517					A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	ENST00000592904.1	37	c.1550A>G	CCDS12213.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.391037	0.82902	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	T;T	0.27557	1.66;1.66	2.4	0.201	0.15186	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31167	0.0788	M	0.79258	2.445	0.24151	N	0.995692	P	0.36944	0.574	B	0.37198	0.243	T	0.28996	-1.0026	9	0.72032	D	0.01	.	4.0017	0.09582	0.0:0.1316:0.2124:0.656	.	517	Q14584	ZN266_HUMAN	G	517	ENSP00000354680:E517G;ENSP00000355047:E517G	ENSP00000355047:E517G	E	-	2	0	ZNF266	9385051	0.102000	0.21896	0.003000	0.11579	0.765000	0.43378	1.207000	0.32333	-0.030000	0.13804	0.374000	0.22700	GAG		0.438	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1			47	116	0	0	0	0	47	116				
PODNL1	79883	broad.mit.edu	37	19	14044707	14044707	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:14044707C>G	ENST00000339560.5	-	7	1045	c.772G>C	c.(772-774)Gat>Cat	p.D258H	PODNL1_ENST00000538517.2_Missense_Mutation_p.D167H|PODNL1_ENST00000538371.2_Missense_Mutation_p.D256H|PODNL1_ENST00000254320.3_Missense_Mutation_p.D176H	NM_024825.3	NP_079101.3	Q6PEZ8	PONL1_HUMAN	podocan-like 1	258	Leu-rich.					proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			GTGGTGGCATCCAGGCCACTG	0.612																																						uc002mxr.2		NA																	0				central_nervous_system(1)	1						c.(772-774)GAT>CAT		podocan-like 1 isoform 1							39.0	36.0	37.0					19																	14044707		2203	4300	6503	SO:0001583	missense	79883					proteinaceous extracellular matrix		g.chr19:14044707C>G	AK027100	CCDS12300.1, CCDS54225.1, CCDS54226.1	19p13.12	2008-02-05							26275	protein-coding gene	gene with protein product						12477932	Standard	NM_024825		Approved	FLJ23447, SLRR5B	uc010xnj.2	Q6PEZ8		ENST00000339560.5:c.772G>C	19.37:g.14044707C>G	ENSP00000345175:p.Asp258His					PODNL1_uc010xni.1_Missense_Mutation_p.D176H|PODNL1_uc010xnj.1_Missense_Mutation_p.D256H|PODNL1_uc002mxs.2_Missense_Mutation_p.D167H	p.D258H	NM_024825	NP_079101	Q6PEZ8	PONL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)		7	1046	-			258			Leu-rich.|LRR 8.		B7Z564|Q9H5G9	Missense_Mutation	SNP	ENST00000339560.5	37	c.772G>C	CCDS12300.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.953353	0.53293	.	.	ENSG00000132000	ENST00000538371;ENST00000538517;ENST00000339560;ENST00000545071;ENST00000254320	T;T;T;T	0.58060	1.78;1.78;0.36;0.36	4.58	4.58	0.56647	.	0.000000	0.45867	D	0.000330	T	0.50701	0.1631	N	0.21373	0.66	0.37221	D	0.905249	P;D;B;P	0.54207	0.775;0.965;0.164;0.559	B;P;B;P	0.57371	0.429;0.819;0.236;0.519	T	0.54543	-0.8278	10	0.34782	T	0.22	.	10.8716	0.46887	0.0:0.8082:0.1917:0.0	.	256;176;167;258	F5H7F9;B7Z3M0;G3V1J6;Q6PEZ8	.;.;.;PONL1_HUMAN	H	256;167;258;108;176	ENSP00000442553:D256H;ENSP00000440080:D167H;ENSP00000345175:D258H;ENSP00000254320:D176H	ENSP00000254320:D176H	D	-	1	0	PODNL1	13905707	1.000000	0.71417	0.984000	0.44739	0.349000	0.29174	4.227000	0.58612	2.092000	0.63282	0.579000	0.79373	GAT		0.612	PODNL1-003	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457967.1	NM_024825		3	17	0	0	0	0	3	17				
ZNF676	163223	broad.mit.edu	37	19	22363783	22363783	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:22363783T>C	ENST00000397121.2	-	3	1053	c.736A>G	c.(736-738)Att>Gtt	p.I246V		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	246					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CCAGTATGAATTATCTTATGT	0.358																																						uc002nqs.1		NA																	0					0						c.(736-738)ATT>GTT		zinc finger protein 676							79.0	87.0	84.0					19																	22363783		2177	4289	6466	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363783T>C	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.736A>G	19.37:g.22363783T>C	ENSP00000380310:p.Ile246Val						p.I246V	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1054	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	246			C2H2-type 3.		A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.736A>G	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	10.62	1.400383	0.25291	.	.	ENSG00000196109	ENST00000397121	T	0.16324	2.35	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14917	0.0360	N	0.03948	-0.315	0.21675	N	0.999599	D	0.54397	0.966	D	0.73380	0.98	T	0.13980	-1.0489	9	0.52906	T	0.07	.	4.0186	0.09655	0.0:0.2571:0.0:0.7429	.	246	Q8N7Q3	ZN676_HUMAN	V	246	ENSP00000380310:I246V	ENSP00000380310:I246V	I	-	1	0	ZNF676	22155623	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-0.972000	0.03802	0.166000	0.19597	0.164000	0.16699	ATT		0.358	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		17	194	0	0	0	0	17	194				
CYP2A13	1553	broad.mit.edu	37	19	41594389	41594389	+	Missense_Mutation	SNP	G	G	A	rs71579358		TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:41594389G>A	ENST00000330436.3	+	1	13	c.13G>A	c.(13-15)Ggg>Agg	p.G5R		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	5					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	GCTGGCCTCAGGGCTGCTTCT	0.557																																						uc002opt.2		NA																	0		p.G5E(1)		ovary(2)|skin(1)	3						c.(13-15)GGG>AGG		cytochrome P450, family 2, subfamily A,	Clomipramine(DB01242)|Nicotine(DB00184)						63.0	52.0	56.0					19																	41594389		2203	4300	6503	SO:0001583	missense	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41594389G>A	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.13G>A	19.37:g.41594389G>A	ENSP00000332679:p.Gly5Arg						p.G5R	NM_000766	NP_000757	Q16696	CP2AD_HUMAN			1	22	+			5					Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	c.13G>A	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	13.80	2.346695	0.41599	.	.	ENSG00000197838	ENST00000330436	T	0.69040	-0.37	3.3	3.3	0.37823	.	0.285165	0.29438	U	0.012142	T	0.75488	0.3856	M	0.68952	2.095	0.28685	N	0.904894	D	0.69078	0.997	P	0.61397	0.888	T	0.69760	-0.5058	10	0.44086	T	0.13	.	12.5425	0.56179	0.0:0.0:1.0:0.0	.	5	Q16696	CP2AD_HUMAN	R	5	ENSP00000332679:G5R	ENSP00000332679:G5R	G	+	1	0	CYP2A13	46286229	0.998000	0.40836	0.989000	0.46669	0.961000	0.63080	5.281000	0.65609	1.860000	0.53959	0.430000	0.28490	GGG		0.557	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		17	52	0	0	0	0	17	52				
CCDC9	26093	broad.mit.edu	37	19	47763905	47763905	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:47763905A>T	ENST00000221922.6	+	5	493	c.271A>T	c.(271-273)Aag>Tag	p.K91*		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	91	Gly-rich.						poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		AGGGGCCAGCAAGGGGGGCCG	0.706																																						uc010xym.1		NA																	0					0						c.(271-273)AAG>TAG		coiled-coil domain containing 9							18.0	20.0	20.0					19																	47763905		1880	3946	5826	SO:0001587	stop_gained	26093							g.chr19:47763905A>T	AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.271A>T	19.37:g.47763905A>T	ENSP00000221922:p.Lys91*						p.K91*	NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)	5	478	+		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)	91			Gly-rich.			Nonsense_Mutation	SNP	ENST00000221922.6	37	c.271A>T	CCDS12698.1	.	.	.	.	.	.	.	.	.	.	-	37	6.316145	0.97467	.	.	ENSG00000105321	ENST00000221922;ENST00000504556	.	.	.	3.32	2.29	0.28610	.	0.544685	0.18475	N	0.140118	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2348	6.7141	0.23294	0.8783:0.0:0.1217:0.0	.	.	.	.	X	91	.	ENSP00000221922:K91X	K	+	1	0	CCDC9	52455745	1.000000	0.71417	0.714000	0.30535	0.925000	0.55904	4.107000	0.57811	0.480000	0.27534	0.353000	0.21931	AAG		0.706	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1	NM_015603		28	96	0	0	0	0	28	96				
MYH14	79784	broad.mit.edu	37	19	50785002	50785002	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:50785002G>A	ENST00000596571.1	+	30	4319	c.4319G>A	c.(4318-4320)cGc>cAc	p.R1440H	MYH14_ENST00000598205.1_Missense_Mutation_p.R1448H|MYH14_ENST00000376970.2_Missense_Mutation_p.R1473H|MYH14_ENST00000262269.8_Missense_Mutation_p.R1481H|MYH14_ENST00000440075.2_Missense_Mutation_p.R1481H|MYH14_ENST00000601313.1_Missense_Mutation_p.R1481H|MYH14_ENST00000425460.1_Missense_Mutation_p.R1448H			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1440					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CGGGGCCGCCGCCGGCTGCAG	0.701																																						uc002prr.1		NA																	0				central_nervous_system(1)	1						c.(4318-4320)CGC>CAC		myosin, heavy chain 14 isoform 2							9.0	13.0	12.0					19																	50785002		1912	3995	5907	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50785002G>A	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.4319G>A	19.37:g.50785002G>A	ENSP00000472819:p.Arg1440His					MYH14_uc010enu.1_Missense_Mutation_p.R1481H|MYH14_uc002prq.1_Missense_Mutation_p.R1448H|MYH14_uc010ycb.1_Intron	p.R1440H	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	31	4366	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1440			Potential.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.4319G>A	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457058	0.63401	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000262269	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	3.96	2.92	0.33932	Myosin tail (1);	.	.	.	.	T	0.57784	0.2077	N	0.01576	-0.805	0.09310	N	0.999994	D;D;D	0.67145	0.996;0.985;0.982	P;P;P	0.53912	0.737;0.734;0.615	T	0.48636	-0.9018	9	0.17832	T	0.49	.	6.2131	0.20640	0.2261:0.0:0.7739:0.0	.	1481;1440;1448	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	H	1440;1481;1473;1448;1481	ENSP00000406273:R1481H;ENSP00000366169:R1473H;ENSP00000407879:R1448H;ENSP00000262269:R1481H	ENSP00000262269:R1481H	R	+	2	0	MYH14	55476814	0.011000	0.17503	0.975000	0.42487	0.987000	0.75469	0.136000	0.15974	1.037000	0.40024	0.555000	0.69702	CGC		0.701	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		5	15	0	0	0	0	5	15				
SIGLECL1	284369	broad.mit.edu	37	19	51768727	51768727	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:51768727G>A	ENST00000316401.7	+	3	509	c.128G>A	c.(127-129)gGa>gAa	p.G43E	SIGLECL1_ENST00000593968.1_Intron|SIGLECL1_ENST00000597824.1_Intron|CTD-3187F8.2_ENST00000597569.1_RNA	NM_173635.1	NP_775906.1	Q96PQ1	SIG12_HUMAN	SIGLEC family like 1	416	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										TGGATGGGAGGAGTCCCCGTG	0.577																																						uc002pwb.1		NA																	0				ovary(1)|pancreas(1)	2						c.(127-129)GGA>GAA		hypothetical protein LOC284369							79.0	72.0	74.0					19																	51768727		2203	4300	6503	SO:0001583	missense	284369					integral to membrane		g.chr19:51768727G>A	AK097554	CCDS12827.1	19q13.33	2013-03-20	2012-07-20	2012-07-20	ENSG00000179213	ENSG00000179213			26856	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 75"", ""sialic acid binding Ig-like lectin 23, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 7"""	C19orf75, SIGLEC23P, SIGLECP7			Standard	NM_173635		Approved	FLJ40235	uc002pwb.1	Q8N7X8	OTTHUMG00000182881	ENST00000316401.7:c.128G>A	19.37:g.51768727G>A	ENSP00000321249:p.Gly43Glu					C19orf75_uc010eov.1_Intron|C19orf75_uc010ycw.1_Intron	p.G43E	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN			3	509	+			43					Q8IYH7	Missense_Mutation	SNP	ENST00000316401.7	37	c.128G>A	CCDS12827.1	.	.	.	.	.	.	.	.	.	.	G	9.295	1.051632	0.19827	.	.	ENSG00000179213	ENST00000316401	D	0.89681	-2.55	3.57	1.37	0.22104	Immunoglobulin-like fold (1);	0.639183	0.12953	N	0.425713	T	0.81612	0.4859	N	0.12853	0.265	0.09310	N	1	D	0.63046	0.992	P	0.55161	0.77	T	0.70981	-0.4724	10	0.17832	T	0.49	-9.2677	4.8715	0.13635	0.2999:0.0:0.7001:0.0	.	43	Q8N7X8	CS075_HUMAN	E	43	ENSP00000321249:G43E	ENSP00000321249:G43E	G	+	2	0	C19orf75	56460539	0.000000	0.05858	0.001000	0.08648	0.330000	0.28571	-0.078000	0.11375	0.772000	0.33382	0.650000	0.86243	GGA		0.577	SIGLECL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464161.2	NM_173635		46	85	0	0	0	0	46	85				
ZNF578	147660	broad.mit.edu	37	19	53015012	53015012	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:53015012T>G	ENST00000421239.2	+	6	1622	c.1378T>G	c.(1378-1380)Tgt>Ggt	p.C460G	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	460					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ATGTGAAGAATGTGACAGAGT	0.378																																						uc002pzp.3		NA																	0					0						c.(1378-1380)TGT>GGT		zinc finger protein 578							58.0	63.0	61.0					19																	53015012		2191	4296	6487	SO:0001583	missense	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53015012T>G	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.1378T>G	19.37:g.53015012T>G	ENSP00000459216:p.Cys460Gly						p.C460G	NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	1622	+			235			C2H2-type 9.		B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	c.1378T>G	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	14.26	2.480972	0.44044	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.48	1.48	0.22813	.	.	.	.	.	T	0.79528	0.4461	H	0.98111	4.15	0.28425	N	0.917524	D	0.57571	0.98	D	0.72075	0.976	T	0.69483	-0.5133	7	.	.	.	.	7.9426	0.29967	0.0:0.0:0.0:1.0	.	460	G3V4F6	.	G	460	.	.	C	+	1	0	ZNF578	57706824	1.000000	0.71417	0.043000	0.18650	0.016000	0.09150	6.233000	0.72320	0.696000	0.31696	0.246000	0.17985	TGT		0.378	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		24	77	0	0	0	0	24	77				
NLRP12	91662	broad.mit.edu	37	19	54327177	54327177	+	Silent	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:54327177G>A	ENST00000324134.6	-	1	420	c.252C>T	c.(250-252)gaC>gaT	p.D84D	NLRP12_ENST00000391773.1_Silent_p.D84D|NLRP12_ENST00000351894.4_Silent_p.D84D|NLRP12_ENST00000535162.1_Silent_p.D84D|NLRP12_ENST00000391772.1_Silent_p.D84D|NLRP12_ENST00000391775.3_Silent_p.D84D|NLRP12_ENST00000345770.5_Silent_p.D84D|NLRP12_ENST00000354278.3_Silent_p.D84D	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	84	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCTCCCACAGGTCCTTCCTGT	0.607																																						uc002qch.3		NA																	0				ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(250-252)GAC>GAT		NLR family, pyrin domain containing 12 isoform							107.0	104.0	105.0					19																	54327177		2203	4300	6503	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54327177G>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.252C>T	19.37:g.54327177G>A						NLRP12_uc002qci.3_Silent_p.D84D|NLRP12_uc002qcj.3_Silent_p.D84D|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.D84D	p.D84D	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	1	472	-	Ovarian(34;0.19)		84			DAPIN.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.252C>T	CCDS12864.1																																																																																				0.607	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		94	216	0	0	0	0	94	216				
LAIR2	3904	broad.mit.edu	37	19	55020273	55020273	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:55020273C>A	ENST00000301202.2	+	4	515	c.393C>A	c.(391-393)gaC>gaA	p.D131E	LAIR2_ENST00000351841.2_Intron	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	131						extracellular region (GO:0005576)				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		ACTCCCCGGACACAGAGCCCG	0.632																																						uc002qgc.2		NA																	0				ovary(1)	1						c.(391-393)GAC>GAA		leukocyte-associated immunoglobulin-like							31.0	39.0	36.0					19																	55020273		2147	4276	6423	SO:0001583	missense	3904					extracellular region	receptor activity	g.chr19:55020273C>A	AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6478	protein-coding gene	gene with protein product		602993	"""leukocyte-associated Ig-like receptor 2"""			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.393C>A	19.37:g.55020273C>A	ENSP00000301202:p.Asp131Glu					LAIR2_uc002qgd.2_Intron|LAIR2_uc010erl.2_Missense_Mutation_p.T100K	p.D131E	NM_002288	NP_002279	Q6ISS4	LAIR2_HUMAN		GBM - Glioblastoma multiforme(193;0.0967)	4	515	+	Ovarian(34;0.19)		131					Q6PEZ4	Missense_Mutation	SNP	ENST00000301202.2	37	c.393C>A	CCDS12897.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.640298	0.00799	.	.	ENSG00000167618	ENST00000301202	T	0.00507	6.92	1.29	0.0523	0.14301	.	.	.	.	.	T	0.00271	0.0008	N	0.08118	0	0.09310	N	1	B	0.19073	0.033	B	0.12156	0.007	T	0.42515	-0.9447	9	0.87932	D	0	.	4.2751	0.10804	0.3938:0.6062:0.0:0.0	.	131	Q6ISS4	LAIR2_HUMAN	E	131	ENSP00000301202:D131E	ENSP00000301202:D131E	D	+	3	2	LAIR2	59712085	0.063000	0.20901	0.002000	0.10522	0.012000	0.07955	0.537000	0.23144	0.054000	0.16065	0.205000	0.17691	GAC		0.632	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140801.1			20	53	1	0	1.43e-11	1.58e-11	20	53				
FIZ1	84922	broad.mit.edu	37	19	56104586	56104586	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:56104586C>A	ENST00000221665.3	-	3	810	c.721G>T	c.(721-723)Gcg>Tcg	p.A241S		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	241					positive regulation of protein phosphorylation (GO:0001934)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|receptor tyrosine kinase binding (GO:0030971)	p.A241S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TCCAGCAGCGCGGGCGCGTTG	0.776																																						uc002qli.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(721-723)GCG>TCG		FLT3-interacting zinc finger 1							4.0	5.0	5.0					19																	56104586		1127	2242	3369	SO:0001583	missense	84922				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding	g.chr19:56104586C>A	AK027674	CCDS12928.1	19q13.42	2013-01-08				ENSG00000179943		"""Zinc fingers, C2H2-type"""	25917	protein-coding gene	gene with protein product		609133				12566383	Standard	NM_032836		Approved	FLJ14768, ZNF798	uc002qli.4	Q96SL8		ENST00000221665.3:c.721G>T	19.37:g.56104586C>A	ENSP00000221665:p.Ala241Ser					FIZ1_uc002qlj.3_Missense_Mutation_p.A241S	p.A241S	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	3	811	-			241			C2H2-type 6.		A2RU72|Q6ZMJ7	Missense_Mutation	SNP	ENST00000221665.3	37	c.721G>T	CCDS12928.1	.	.	.	.	.	.	.	.	.	.	C	0.432	-0.902765	0.02453	.	.	ENSG00000179943	ENST00000221665	T	0.39229	1.09	3.7	2.6	0.31112	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15652	0.0377	N	0.05414	-0.055	0.09310	N	0.999999	P	0.34864	0.473	B	0.34138	0.176	T	0.23297	-1.0192	9	0.02654	T	1	-9.6349	2.3738	0.04337	0.2006:0.4953:0.1948:0.1093	.	241	Q96SL8	FIZ1_HUMAN	S	241	ENSP00000221665:A241S	ENSP00000221665:A241S	A	-	1	0	FIZ1	60796398	0.495000	0.26051	0.558000	0.28319	0.636000	0.38137	2.846000	0.48262	0.838000	0.34948	0.511000	0.50034	GCG		0.776	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453350.1	NM_032836		8	10	1	0	1.13e-05	1.19e-05	8	10				
NLRP13	126204	broad.mit.edu	37	19	56422072	56422072	+	Silent	SNP	G	G	A	rs185367421		TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:56422072G>A	ENST00000342929.3	-	6	2138	c.2139C>T	c.(2137-2139)caC>caT	p.H713H	NLRP13_ENST00000588751.1_Silent_p.H713H	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	713							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGTTCCATGCGTGCATCCTGG	0.463																																						uc010ygg.1		NA																	0				skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(2137-2139)CAC>CAT		NACHT, leucine rich repeat and PYD containing							170.0	148.0	155.0					19																	56422072		2203	4300	6503	SO:0001819	synonymous_variant	126204						ATP binding	g.chr19:56422072G>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2139C>T	19.37:g.56422072G>A							p.H713H	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	6	2164	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	713					Q7RTR5	Silent	SNP	ENST00000342929.3	37	c.2139C>T	CCDS33119.1																																																																																				0.463	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		44	129	0	0	0	0	44	129				
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G	rs199732634		TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358																																						uc002qqo.2		NA																	2	Substitution - coding silent(2)		kidney(2)		0						c.(994-996)TCG>TCC		zinc finger protein 814							25.0	25.0	25.0					19																	58385762		692	1589	2281	SO:0001819	synonymous_variant	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385762C>G		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.996G>C	19.37:g.58385762C>G						ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	p.S332S	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN			3	1268	-			332			C2H2-type 5.		A6NF35	Silent	SNP	ENST00000435989.2	37	c.996G>C	CCDS46212.1																																																																																				0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		2	11	0	0	0	0	2	11				
NCOA1	8648	broad.mit.edu	37	2	24905933	24905933	+	Silent	SNP	C	C	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:24905933C>G	ENST00000406961.1	+	8	1120	c.468C>G	c.(466-468)gtC>gtG	p.V156V	NCOA1_ENST00000405141.1_Silent_p.V156V|NCOA1_ENST00000407230.1_Silent_p.V5V|NCOA1_ENST00000395856.3_Silent_p.V156V|NCOA1_ENST00000538539.1_Silent_p.V156V|NCOA1_ENST00000348332.3_Silent_p.V156V|NCOA1_ENST00000288599.5_Silent_p.V156V			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	156	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATACGAGCGTCTACAGCATAC	0.373			T	PAX3	alveolar rhadomyosarcoma																																	uc002rfk.2		NA		Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11						c.(466-468)GTC>GTG		nuclear receptor coactivator 1 isoform 1							84.0	81.0	82.0					2																	24905933		2203	4300	6503	SO:0001819	synonymous_variant	8648							g.chr2:24905933C>G	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.468C>G	2.37:g.24905933C>G						NCOA1_uc010eye.2_Silent_p.V156V|NCOA1_uc002rfi.2_Silent_p.V5V|NCOA1_uc002rfj.2_Silent_p.V156V|NCOA1_uc002rfl.2_Silent_p.V156V	p.V156V	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			6	726	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		156			PAS.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	ENST00000406961.1	37	c.468C>G	CCDS1712.1																																																																																				0.373	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		27	84	0	0	0	0	27	84				
IFT172	26160	broad.mit.edu	37	2	27668659	27668659	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:27668659T>C	ENST00000260570.3	-	45	4970	c.4867A>G	c.(4867-4869)Aca>Gca	p.T1623A	KRTCAP3_ENST00000543753.1_Intron	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1623					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GGAATGTCTGTATCCTGAAAA	0.542																																						uc002rku.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(4867-4869)ACA>GCA		selective LIM binding factor homolog							136.0	131.0	132.0					2																	27668659		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27668659T>C	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.4867A>G	2.37:g.27668659T>C	ENSP00000260570:p.Thr1623Ala					IFT172_uc010ezb.2_RNA	p.T1623A	NM_015662	NP_056477	Q9UG01	IF172_HUMAN			45	4918	-	Acute lymphoblastic leukemia(172;0.155)		1623					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.4867A>G	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.529576	0.85706	.	.	ENSG00000138002	ENST00000260570	T	0.61859	0.07	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.73860	0.3641	M	0.81179	2.53	0.80722	D	1	D	0.62365	0.991	P	0.61874	0.895	T	0.77619	-0.2520	10	0.62326	D	0.03	-8.7711	12.8205	0.57690	0.0:0.0:0.0:1.0	.	1623	Q9UG01	IF172_HUMAN	A	1623	ENSP00000260570:T1623A	ENSP00000260570:T1623A	T	-	1	0	IFT172	27522163	1.000000	0.71417	0.968000	0.41197	0.983000	0.72400	7.701000	0.84566	2.067000	0.61834	0.459000	0.35465	ACA		0.542	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		48	118	0	0	0	0	48	118				
PLEKHH2	130271	broad.mit.edu	37	2	43980883	43980883	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:43980883C>T	ENST00000282406.4	+	25	3889	c.3779C>T	c.(3778-3780)gCa>gTa	p.A1260V		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1260	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTAGAAATGGCAGCTCTTTTA	0.299																																						uc010yny.1		NA																	0				skin(2)|central_nervous_system(1)	3						c.(3778-3780)GCA>GTA		pleckstrin homology domain containing, family H							64.0	71.0	68.0					2																	43980883		2203	4298	6501	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43980883C>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3779C>T	2.37:g.43980883C>T	ENSP00000282406:p.Ala1260Val						p.A1260V	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN			25	3862	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1260			FERM.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.3779C>T	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805085	0.90623	.	.	ENSG00000152527	ENST00000282406	D	0.88431	-2.38	5.42	5.42	0.78866	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.047819	0.85682	D	0.000000	D	0.92903	0.7742	M	0.71581	2.175	0.80722	D	1	P	0.40578	0.722	P	0.52554	0.702	D	0.92921	0.6355	10	0.59425	D	0.04	-6.7931	19.2521	0.93929	0.0:1.0:0.0:0.0	.	1260	Q8IVE3	PKHH2_HUMAN	V	1260	ENSP00000282406:A1260V	ENSP00000282406:A1260V	A	+	2	0	PLEKHH2	43834387	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.542000	0.85734	0.655000	0.94253	GCA		0.299	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		58	86	0	0	0	0	58	86				
REL	5966	broad.mit.edu	37	2	61118932	61118932	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:61118932A>T	ENST00000295025.8	+	2	445	c.125A>T	c.(124-126)gAc>gTc	p.D42V	REL_ENST00000394479.3_Missense_Mutation_p.D42V	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	42	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			CACAGCACAGACAACAACCGA	0.413			A		Hodgkin Lymphoma																																	uc002sam.1		NA		Dom	yes		2	2p13-p12	5966	A	v-rel reticuloendotheliosis viral oncogene homolog (avian)			L			Hodgkin Lymphoma		0				ovary(2)|breast(1)	3						c.(124-126)GAC>GTC		v-rel reticuloendotheliosis viral oncogene							196.0	174.0	182.0					2																	61118932		2203	4300	6503	SO:0001583	missense	5966				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:61118932A>T	M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.125A>T	2.37:g.61118932A>T	ENSP00000295025:p.Asp42Val					REL_uc002san.1_Missense_Mutation_p.D42V	p.D42V	NM_002908	NP_002899	Q04864	REL_HUMAN	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)		2	349	+	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	42			RHD.		Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	ENST00000295025.8	37	c.125A>T	CCDS1864.1	.	.	.	.	.	.	.	.	.	.	A	30	5.056508	0.93793	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.44482	0.92;0.92	5.47	5.47	0.80525	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.189432	0.56097	D	0.000040	T	0.64125	0.2570	M	0.80982	2.52	0.80722	D	1	P;D	0.56521	0.956;0.976	P;P	0.61592	0.847;0.891	T	0.68640	-0.5355	10	0.56958	D	0.05	-12.8321	15.5452	0.76093	1.0:0.0:0.0:0.0	.	42;42	Q17RU2;Q04864	.;REL_HUMAN	V	42	ENSP00000295025:D42V;ENSP00000377989:D42V	ENSP00000295025:D42V	D	+	2	0	REL	60972436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.334000	0.96470	2.066000	0.61787	0.528000	0.53228	GAC		0.413	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	NM_002908		50	139	0	0	0	0	50	139				
ANKRD36	375248	broad.mit.edu	37	2	97779626	97779626	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:97779626C>G	ENST00000461153.2	+	1	394	c.150C>G	c.(148-150)taC>taG	p.Y50*	ANKRD36_ENST00000420699.2_Nonsense_Mutation_p.Y50*			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	50								p.Y50*(2)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AACTGAAGTACCTTCTGCTCA	0.517																																						uc010yva.1		NA																	2	Substitution - Nonsense(2)		ovary(2)		0						c.(148-150)TAC>TAG		ankyrin repeat domain 36							72.0	69.0	70.0					2																	97779626		1971	4163	6134	SO:0001587	stop_gained	375248							g.chr2:97779626C>G	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.150C>G	2.37:g.97779626C>G	ENSP00000419530:p.Tyr50*					ANKRD36_uc002sxn.2_Nonsense_Mutation_p.Y50*|ANKRD36_uc010yuz.1_RNA|ANKRD36_uc010fic.2_5'UTR|ANKRD36_uc002sxo.2_Nonsense_Mutation_p.Y50*|ANKRD36_uc002sxp.3_RNA	p.Y50*	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN			1	394	+			50			ANK 1.		B4E3I8|Q6UX02|Q86X62|Q9HCD1	Nonsense_Mutation	SNP	ENST00000461153.2	37	c.150C>G	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893154	0.52121	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000393513;ENST00000289105;ENST00000455519	.	.	.	0.93	-0.0775	0.13718	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	4.7181	0.12904	0.0:0.4225:0.5775:0.0	.	.	.	.	X	50	.	ENSP00000289105:Y50X	Y	+	3	2	ANKRD36	97143353	0.009000	0.17119	0.000000	0.03702	0.001000	0.01503	-0.057000	0.11768	-0.038000	0.13624	-0.690000	0.03725	TAC		0.517	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			29	56	0	0	0	0	29	56				
TBC1D8	11138	broad.mit.edu	37	2	101627939	101627939	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:101627939C>G	ENST00000376840.4	-	18	2845	c.2846G>C	c.(2845-2847)aGa>aCa	p.R949T	RPL31_ENST00000409028.4_Intron|TBC1D8_ENST00000409318.1_Missense_Mutation_p.R964T|RPL31_ENST00000409650.1_Intron|RPL31_ENST00000409038.1_Intron			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	949					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						AACCAGGGGTCTCGATGTTGA	0.483																																						uc010fiv.2		NA																	0				ovary(3)	3						c.(2845-2847)AGA>ACA		TBC1 domain family, member 8							109.0	113.0	112.0					2																	101627939		1920	4124	6044	SO:0001583	missense	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101627939C>G	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.2846G>C	2.37:g.101627939C>G	ENSP00000366036:p.Arg949Thr					RPL31_uc010yvu.1_Intron|RPL31_uc010yvv.1_Intron|RPL31_uc010fiu.1_Intron|TBC1D8_uc002tau.3_Missense_Mutation_p.R706T	p.R949T	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN			18	2977	-			949					A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	37	c.2846G>C	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.699707	0.30142	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.03212	4.01;4.01	5.67	5.67	0.87782	.	0.091826	0.46758	D	0.000278	T	0.05364	0.0142	L	0.39633	1.23	0.38674	D	0.952374	B	0.14438	0.01	B	0.20184	0.028	T	0.47861	-0.9084	10	0.14656	T	0.56	-24.3226	20.1272	0.97986	0.0:1.0:0.0:0.0	.	949	O95759	TBCD8_HUMAN	T	949;964	ENSP00000366036:R949T;ENSP00000386856:R964T	ENSP00000366036:R949T	R	-	2	0	TBC1D8	100994371	1.000000	0.71417	0.992000	0.48379	0.792000	0.44763	6.318000	0.72866	2.828000	0.97474	0.655000	0.94253	AGA		0.483	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		42	79	0	0	0	0	42	79				
CFAP221	200373	broad.mit.edu	37	2	120388230	120388230	+	Silent	SNP	C	C	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:120388230C>A	ENST00000413369.3	+	18	1903	c.1816C>A	c.(1816-1818)Cga>Aga	p.R606R	PCDP1_ENST00000602047.1_Silent_p.R320R	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					AAAGCTTGCCCGAGCCCTAAA	0.448																																						uc002tmb.2		NA																	0					0						c.(958-960)CGA>AGA		primary ciliary dyskinesia protein 1							79.0	79.0	79.0					2																	120388230		2203	4300	6503	SO:0001819	synonymous_variant	200373					cilium	calmodulin binding	g.chr2:120388230C>A																												ENST00000413369.3:c.1816C>A	2.37:g.120388230C>A						PCDP1_uc010yyq.1_Silent_p.R450R	p.R320R	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN			19	2050	+	Colorectal(110;0.196)		606						Silent	SNP	ENST00000413369.3	37	c.958C>A	CCDS33282.2																																																																																				0.448	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1			26	60	1	0	7.88e-20	8.86e-20	26	60				
LRP1B	53353	broad.mit.edu	37	2	141083449	141083449	+	Splice_Site	SNP	T	T	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:141083449T>A	ENST00000389484.3	-	80	13195		c.e80-2			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGCCAAACCTGCAAAATCAA	0.348										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.e80-1		low density lipoprotein-related protein 1B							94.0	86.0	88.0					2																	141083449		2203	4299	6502	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141083449T>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12224-2A>T	2.37:g.141083449T>A		TSP Lung(27;0.18)					p.G4075_splice	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	80	13196	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)						Q8WY29|Q8WY30|Q8WY31	Splice_Site	SNP	ENST00000389484.3	37	c.12224_splice	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.253598	0.80135	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000437977	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.943	0.71009	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP1B	140799919	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.563000	0.82314	1.930000	0.55929	0.482000	0.46254	.		0.348	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Intron	19	35	0	0	0	0	19	35				
LRP1B	53353	broad.mit.edu	37	2	141777529	141777529	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:141777529C>A	ENST00000389484.3	-	12	2903	c.1932G>T	c.(1930-1932)atG>atT	p.M644I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	644					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGGGATGAGACATTTCACCCT	0.368										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(1930-1932)ATG>ATT		low density lipoprotein-related protein 1B							93.0	95.0	94.0					2																	141777529		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141777529C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1932G>T	2.37:g.141777529C>A	ENSP00000374135:p.Met644Ile	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.M644I	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	12	2904	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	644			Extracellular (Potential).|LDL-receptor class B 6.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.1932G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976106	0.74360	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.94931	-3.56	5.33	5.33	0.75918	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	U	0.000000	D	0.93291	0.7862	N	0.04260	-0.245	0.58432	D	0.999999	D	0.59357	0.985	D	0.72338	0.977	D	0.94358	0.7585	10	0.41790	T	0.15	.	19.3667	0.94466	0.0:1.0:0.0:0.0	.	644	Q9NZR2	LRP1B_HUMAN	I	644;582	ENSP00000374135:M644I	ENSP00000374135:M644I	M	-	3	0	LRP1B	141493999	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.726000	0.84824	2.636000	0.89361	0.557000	0.71058	ATG		0.368	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		35	113	1	0	9.89e-21	1.11e-20	35	113				
TNFAIP6	7130	broad.mit.edu	37	2	152235971	152235971	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:152235971C>T	ENST00000243347.3	+	6	833	c.758C>T	c.(757-759)tCc>tTc	p.S253F		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	253					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	GTATCCAAATCCAGTCAAGGA	0.338																																						uc002txk.2		NA																	0					0						c.(757-759)TCC>TTC		tumor necrosis factor, alpha-induced protein 6							104.0	110.0	108.0					2																	152235971		2203	4300	6503	SO:0001583	missense	7130				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding	g.chr2:152235971C>T		CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	ENST00000243347.3:c.758C>T	2.37:g.152235971C>T	ENSP00000243347:p.Ser253Phe						p.S253F	NM_007115	NP_009046	P98066	TSG6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	6	834	+			253					Q53TI7|Q8WWI9	Missense_Mutation	SNP	ENST00000243347.3	37	c.758C>T	CCDS2193.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306764	0.40795	.	.	ENSG00000123610	ENST00000243347	T	0.19669	2.13	5.56	5.56	0.83823	.	0.480160	0.21847	N	0.068232	T	0.12475	0.0303	N	0.08118	0	0.27918	N	0.938358	B	0.16802	0.019	B	0.15870	0.014	T	0.12451	-1.0547	10	0.56958	D	0.05	.	13.0988	0.59208	0.1605:0.8395:0.0:0.0	.	253	P98066	TSG6_HUMAN	F	253	ENSP00000243347:S253F	ENSP00000243347:S253F	S	+	2	0	TNFAIP6	151944217	0.419000	0.25449	0.999000	0.59377	0.720000	0.41350	2.830000	0.48136	2.598000	0.87819	0.655000	0.94253	TCC		0.338	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254834.2	NM_007115		62	165	0	0	0	0	62	165				
PPP1R1C	151242	broad.mit.edu	37	2	182852607	182852607	+	Silent	SNP	C	C	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:182852607C>G	ENST00000409137.3	+	2	366	c.123C>G	c.(121-123)ctC>ctG	p.L41L	PPP1R1C_ENST00000475249.1_Intron|PPP1R1C_ENST00000452904.1_Silent_p.L41L|PPP1R1C_ENST00000409702.1_Silent_p.L41L|PPP1R1C_ENST00000280295.3_Silent_p.L48L	NM_001261424.1|NM_001261425.1	NP_001248353.1|NP_001248354.1	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1C	41					cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of catalytic activity (GO:0043086)|positive regulation of cell growth (GO:0030307)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			TTGTGATTCTCAATGAGCATA	0.408																																						uc002uoo.2		NA																	0					0						c.(121-123)CTC>CTG		protein phosphatase 1, regulatory (inhibitor)							214.0	201.0	205.0					2																	182852607		1916	4133	6049	SO:0001819	synonymous_variant	151242				signal transduction	cytoplasm	protein phosphatase inhibitor activity	g.chr2:182852607C>G	AF494535, BC017943	CCDS46468.1, CCDS58740.1	2q31.3	2012-04-17			ENSG00000150722	ENSG00000150722		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14940	protein-coding gene	gene with protein product		613240				11948623	Standard	NM_001261424		Approved	Inhibitor-1-like	uc010frm.2	Q8WVI7	OTTHUMG00000154326	ENST00000409137.3:c.123C>G	2.37:g.182852607C>G						PPP1R1C_uc002uon.2_Intron|PPP1R1C_uc002uop.1_Silent_p.L41L|PPP1R1C_uc010frm.1_Silent_p.L48L|PPP1R1C_uc010frn.1_RNA	p.L41L	NM_001080545	NP_001074014	Q8WVI7	PPR1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0628)		2	410	+			41					Q5HYJ5|Q8TD54	Silent	SNP	ENST00000409137.3	37	c.123C>G	CCDS46468.1																																																																																				0.408	PPP1R1C-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334874.1	NM_001080545		86	189	0	0	0	0	86	189				
TMEM237	65062	broad.mit.edu	37	2	202492078	202492078	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:202492078G>A	ENST00000409883.2	-	11	1119	c.1003C>T	c.(1003-1005)Ctt>Ttt	p.L335F	TMEM237_ENST00000409444.2_Missense_Mutation_p.L327F|TMEM237_ENST00000466839.1_5'Flank	NM_001044385.2	NP_001037850.1	Q96Q45	TM237_HUMAN	transmembrane protein 237	335					cilium assembly (GO:0042384)|regulation of Wnt signaling pathway (GO:0030111)	ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						GGTGTGTAAAGGTGGATTCTG	0.333																																						uc002uyh.1		NA																	0					0						c.(1003-1005)CTT>TTT		amyotrophic lateral sclerosis 2 (juvenile)							101.0	93.0	96.0					2																	202492078		1873	4121	5994	SO:0001583	missense	65062					integral to membrane	protein binding	g.chr2:202492078G>A	AB053301	CCDS46489.1, CCDS46490.1	2q33	2012-05-08	2011-05-20	2011-05-20	ENSG00000155755	ENSG00000155755			14432	protein-coding gene	gene with protein product		614423	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4"""	ALS2CR4		11586298, 20375344	Standard	NM_001044385		Approved	JBTS14	uc021vvg.2	Q96Q45	OTTHUMG00000154526	ENST00000409883.2:c.1003C>T	2.37:g.202492078G>A	ENSP00000386264:p.Leu335Phe					ALS2CR4_uc002uyg.1_Missense_Mutation_p.L327F|ALS2CR4_uc010zho.1_Missense_Mutation_p.L130F	p.L335F	NM_001044385	NP_001037850	Q96Q45	TM237_HUMAN			12	1104	-			359					B4E1R8|B4E2R8|E9PAR8|E9PBF8|E9PG24|E9PGX0|Q53TS9|Q53TT2|Q7Z3B6|Q8IZ18|Q8NBF8|Q96CY1	Missense_Mutation	SNP	ENST00000409883.2	37	c.1003C>T	CCDS46489.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396144	0.62177	.	.	ENSG00000155755	ENST00000409444;ENST00000409883;ENST00000435876;ENST00000426684;ENST00000409099	.	.	.	5.48	5.48	0.80851	.	0.057341	0.64402	D	0.000001	T	0.52773	0.1755	L	0.39397	1.21	0.53005	D	0.999966	B;P	0.41929	0.412;0.765	B;B	0.43445	0.148;0.42	T	0.54166	-0.8334	9	0.49607	T	0.09	-15.7066	13.0051	0.58699	0.0739:0.0:0.9261:0.0	.	335;359	E9PAR8;Q96Q45	.;TM237_HUMAN	F	327;335;335;357;240	.	ENSP00000386949:L240F	L	-	1	0	TMEM237	202200323	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.498000	0.81546	2.717000	0.92951	0.650000	0.86243	CTT		0.333	TMEM237-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335753.1	NM_152388		3	15	0	0	0	0	3	15				
WDR12	55759	broad.mit.edu	37	2	203760839	203760839	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:203760839T>A	ENST00000261015.4	-	6	1307	c.558A>T	c.(556-558)agA>agT	p.R186S		NM_018256.3	NP_060726.3			WD repeat domain 12											endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						CAGCATGACCTCTACAGCAGT	0.378																																						uc002uzl.2		NA																	0					0						c.(556-558)AGA>AGT		WD repeat domain 12 protein							124.0	119.0	121.0					2																	203760839		2203	4300	6503	SO:0001583	missense	55759				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr2:203760839T>A	AF242546	CCDS2356.1	2q33.1	2013-01-09			ENSG00000138442	ENSG00000138442		"""WD repeat domain containing"""	14098	protein-coding gene	gene with protein product						16043514, 17353269	Standard	NM_018256		Approved	YTM1, FLJ10881	uc002uzl.3	Q9GZL7	OTTHUMG00000132855	ENST00000261015.4:c.558A>T	2.37:g.203760839T>A	ENSP00000261015:p.Arg186Ser					WDR12_uc010ftt.2_Missense_Mutation_p.R186S	p.R186S	NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN			6	1308	-			186			Sufficient for nucleolar localization.			Missense_Mutation	SNP	ENST00000261015.4	37	c.558A>T	CCDS2356.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.246100	0.80024	.	.	ENSG00000138442	ENST00000261015	T	0.60299	0.2	5.9	-0.234	0.13074	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.56396	0.1982	L	0.28740	0.885	0.54753	D	0.999989	D;D	0.69078	0.997;0.997	D;D	0.80764	0.994;0.994	T	0.50406	-0.8832	10	0.33141	T	0.24	-22.7421	6.8389	0.23951	0.1109:0.3778:0.0:0.5113	.	186;186	Q53T99;Q9GZL7	.;WDR12_HUMAN	S	186	ENSP00000261015:R186S	ENSP00000261015:R186S	R	-	3	2	WDR12	203469084	0.645000	0.27286	0.998000	0.56505	0.880000	0.50808	-0.153000	0.10144	-0.045000	0.13468	0.529000	0.55759	AGA		0.378	WDR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256329.4	NM_018256		53	129	0	0	0	0	53	129				
ABCA12	26154	broad.mit.edu	37	2	215976352	215976352	+	Missense_Mutation	SNP	C	C	T	rs113648834		TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:215976352C>T	ENST00000272895.7	-	2	350	c.131G>A	c.(130-132)cGg>cAg	p.R44Q	ABCA12_ENST00000412081.1_Missense_Mutation_p.R44Q	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	44					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AAATTTGGTCCGAGTAATAGC	0.299																																					Ovarian(66;664 1488 5121 34295)	uc002vew.2		NA																	0				ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(130-132)CGG>CAG		ATP-binding cassette, sub-family A, member 12							67.0	75.0	72.0					2																	215976352		2203	4297	6500	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215976352C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.131G>A	2.37:g.215976352C>T	ENSP00000272895:p.Arg44Gln					ABCA12_uc010zjn.1_5'UTR	p.R44Q	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	2	351	-		Renal(323;0.127)	44					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.131G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555457	0.86231	.	.	ENSG00000144452	ENST00000272895;ENST00000412081	D;D	0.99186	-5.53;-5.53	5.61	5.61	0.85477	.	0.463838	0.19689	N	0.108317	D	0.98365	0.9457	M	0.87328	2.875	0.35300	D	0.782937	B	0.32781	0.384	B	0.27262	0.078	D	0.99981	1.2645	10	0.87932	D	0	.	15.49	0.75597	0.0:1.0:0.0:0.0	.	44	Q86UK0	ABCAC_HUMAN	Q	44	ENSP00000272895:R44Q;ENSP00000400231:R44Q	ENSP00000272895:R44Q	R	-	2	0	ABCA12	215684597	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.168000	0.58216	2.813000	0.96785	0.655000	0.94253	CGG		0.299	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		29	89	0	0	0	0	29	89				
SPEG	10290	broad.mit.edu	37	2	220354645	220354645	+	Silent	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:220354645C>T	ENST00000312358.7	+	36	9037	c.8905C>T	c.(8905-8907)Ctg>Ttg	p.L2969L	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2969	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L2969M(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTACACCTTCCTGGAGGAGAA	0.612																																						uc010fwg.2		NA																	1	Substitution - Missense(1)		lung(1)	stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(8905-8907)CTG>TTG		SPEG complex locus							27.0	29.0	28.0					2																	220354645		1921	4119	6040	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220354645C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8905C>T	2.37:g.220354645C>T							p.L2969L	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	36	8905	+		Renal(207;0.0183)	2969			Protein kinase 2.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.8905C>T	CCDS42824.1																																																																																				0.612	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		19	55	0	0	0	0	19	55				
HJURP	55355	broad.mit.edu	37	2	234749404	234749404	+	Silent	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:234749404C>T	ENST00000411486.2	-	8	2087	c.2022G>A	c.(2020-2022)agG>agA	p.R674R	HJURP_ENST00000441687.1_Silent_p.R589R|HJURP_ENST00000434039.1_5'Flank|HJURP_ENST00000432087.1_Silent_p.R620R	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	674					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		ACTGATGGTCCCTCGTGCCAT	0.577																																						uc002vvg.2		NA																	0				ovary(1)	1						c.(2020-2022)AGG>AGA		Holliday junction recognition protein							77.0	80.0	79.0					2																	234749404		2203	4300	6503	SO:0001819	synonymous_variant	55355				cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	g.chr2:234749404C>T		CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.2022G>A	2.37:g.234749404C>T						HJURP_uc010znd.1_Silent_p.R613R|HJURP_uc010zne.1_Silent_p.R582R	p.R674R	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)	8	2088	-		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)	674					A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Silent	SNP	ENST00000411486.2	37	c.2022G>A	CCDS33406.1																																																																																				0.577	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6	NM_018410		48	107	0	0	0	0	48	107				
TNFRSF6B	8771	broad.mit.edu	37	20	62329691	62329691	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr20:62329691C>G	ENST00000369996.1	+	3	778	c.678C>G	c.(676-678)atC>atG	p.I226M	RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR|ARFRP1_ENST00000485858.1_5'Flank	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	226					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			ACATCTCCATCAAGAGGCTGC	0.672																																						uc002yfy.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(676-678)ATC>ATG		tumor necrosis factor receptor superfamily,							22.0	20.0	20.0					20																	62329691		2109	4151	6260	SO:0001583	missense	8771				anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity	g.chr20:62329691C>G	AF104419	CCDS13532.1	20q13.33	2012-06-27						"""Tumor necrosis factor receptor superfamily"""	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724	ENST00000369996.1:c.678C>G	20.37:g.62329691C>G	ENSP00000359013:p.Ile226Met					RTEL1_uc002yfw.2_RNA|TNFRSF6B_uc002yfz.2_Missense_Mutation_p.I226M	p.I226M	NM_032945	NP_116563	O95407	TNF6B_HUMAN	Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)		7	1112	+	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		226						Missense_Mutation	SNP	ENST00000369996.1	37	c.678C>G	CCDS13532.1	.	.	.	.	.	.	.	.	.	.	C	5.608	0.296906	0.10622	.	.	ENSG00000243509	ENST00000370006;ENST00000369996	T	0.61274	0.12	4.16	-2.78	0.05859	.	.	.	.	.	T	0.35799	0.0944	L	0.34521	1.04	0.09310	N	1	B	0.26775	0.159	B	0.20955	0.032	T	0.21245	-1.0251	9	0.36615	T	0.2	-1.6788	1.7281	0.02926	0.1187:0.3721:0.1931:0.3161	.	226	O95407	TNF6B_HUMAN	M	226	ENSP00000359013:I226M	ENSP00000359010:I226M	I	+	3	3	TNFRSF6B	61800135	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.104000	0.10923	-0.077000	0.12752	-0.339000	0.08088	ATC		0.672	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080182.1			11	43	0	0	0	0	11	43				
TRPM2	7226	broad.mit.edu	37	21	45837865	45837865	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr21:45837865C>T	ENST00000397928.1	+	21	3647	c.3202C>T	c.(3202-3204)Cat>Tat	p.H1068Y	TRPM2_ENST00000300481.9_Missense_Mutation_p.H1048Y|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.H1068Y|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000397932.2_Missense_Mutation_p.H1068Y|AP001065.2_ENST00000456880.1_RNA	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1068					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GTTCCAGCGCCATGACCTGAT	0.612																																						uc002zet.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(3202-3204)CAT>TAT		transient receptor potential cation channel,							68.0	59.0	62.0					21																	45837865		2203	4299	6502	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45837865C>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3202C>T	21.37:g.45837865C>T	ENSP00000381023:p.His1068Tyr					TRPM2_uc002zeu.1_Missense_Mutation_p.H1068Y|TRPM2_uc002zew.1_Missense_Mutation_p.H1068Y|TRPM2_uc010gpt.1_Missense_Mutation_p.H1068Y|TRPM2_uc002zex.1_Missense_Mutation_p.H854Y|TRPM2_uc002zey.1_Missense_Mutation_p.H581Y|uc011afe.1_Intron	p.H1068Y	NM_003307	NP_003298	O94759	TRPM2_HUMAN			22	3415	+			1068			Cytoplasmic (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.3202C>T	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	C	5.301	0.240957	0.10077	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	4.54	4.54	0.55810	.	0.070421	0.64402	D	0.000019	T	0.18467	0.0443	N	0.12920	0.275	0.53688	D	0.99997	B;B;B	0.30021	0.265;0.265;0.265	B;B;B	0.31946	0.138;0.065;0.08	T	0.04178	-1.0971	10	0.02654	T	1	-24.2723	17.6937	0.88276	0.0:1.0:0.0:0.0	.	1068;854;1068	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	Y	1068;1068;1048;1068	ENSP00000300482:H1068Y;ENSP00000381023:H1068Y;ENSP00000300481:H1048Y;ENSP00000381026:H1068Y	ENSP00000300481:H1048Y	H	+	1	0	TRPM2	44662293	0.980000	0.34600	1.000000	0.80357	0.883000	0.51084	2.358000	0.44134	2.253000	0.74438	0.455000	0.32223	CAT		0.612	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		34	77	0	0	0	0	34	77				
KRTAP10-10	353333	broad.mit.edu	37	21	46057446	46057446	+	Silent	SNP	T	T	C	rs444891	byFrequency	TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr21:46057446T>C	ENST00000380095.1	+	1	174	c.112T>C	c.(112-114)Ttg>Ctg	p.L38L	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	38	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						AGCCCCCAGCTTGACCCTGGT	0.662													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17561	0.0		0.001	False		,,,				2504	0.0					uc002zfq.2		NA																	0					0						c.(112-114)TTG>CTG		keratin associated protein 10-10							57.0	64.0	62.0					21																	46057446		2203	4300	6503	SO:0001819	synonymous_variant	353333					keratin filament		g.chr21:46057446T>C	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"""Keratin associated proteins"""	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.112T>C	21.37:g.46057446T>C						C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.L38L	NM_181688	NP_859016	P60014	KR10A_HUMAN			1	174	+			38			15 X 5 AA repeats of C-C-X(3).			Silent	SNP	ENST00000380095.1	37	c.112T>C	CCDS33585.1																																																																																				0.662	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		4	73	0	0	0	0	4	73				
COL6A1	1291	broad.mit.edu	37	21	47410318	47410318	+	Silent	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr21:47410318C>T	ENST00000361866.3	+	13	1098	c.984C>T	c.(982-984)gaC>gaT	p.D328D		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	328	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		GTGGCATCGACGGGGTGGACG	0.647																																						uc002zhu.1		NA																	0				ovary(1)	1						c.(982-984)GAC>GAT		collagen, type VI, alpha 1 precursor	Palifermin(DB00039)						39.0	34.0	36.0					21																	47410318		2201	4299	6500	SO:0001819	synonymous_variant	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47410318C>T	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.984C>T	21.37:g.47410318C>T							p.D328D	NM_001848	NP_001839	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	13	1086	+	all_hematologic(128;0.24)		328			Triple-helical region.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	ENST00000361866.3	37	c.984C>T	CCDS13727.1																																																																																				0.647	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		19	56	0	0	0	0	19	56				
ZC3H7B	23264	broad.mit.edu	37	22	41736067	41736067	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr22:41736067C>T	ENST00000352645.4	+	10	1321	c.1064C>T	c.(1063-1065)tCg>tTg	p.S355L	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.S355L	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	371					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTGCCGTACTCGGAGACCCGG	0.652																																						uc003azw.2		NA																	0				central_nervous_system(1)	1						c.(1063-1065)TCG>TTG		zinc finger CCCH-type containing 7B							28.0	29.0	29.0					22																	41736067		2203	4299	6502	SO:0001583	missense	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41736067C>T		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.1064C>T	22.37:g.41736067C>T	ENSP00000345793:p.Ser355Leu					ZC3H7B_uc010gyl.1_Intron	p.S355L	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN			10	1280	+			371					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	37	c.1064C>T	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.367892	0.42003	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.12147	2.71;2.71	5.35	5.35	0.76521	.	0.475809	0.23803	N	0.044404	T	0.08626	0.0214	N	0.12182	0.205	0.40947	D	0.984518	P	0.36027	0.533	B	0.27887	0.084	T	0.26538	-1.0100	10	0.49607	T	0.09	-8.6933	17.2287	0.86978	0.0:1.0:0.0:0.0	.	355	Q9UGR2-2	.	L	355	ENSP00000345793:S355L;ENSP00000263243:S355L	ENSP00000263243:S355L	S	+	2	0	ZC3H7B	40066013	0.997000	0.39634	0.192000	0.23308	0.065000	0.16274	5.370000	0.66144	2.486000	0.83907	0.561000	0.74099	TCG		0.652	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		20	61	0	0	0	0	20	61				
PARP9	83666	broad.mit.edu	37	3	122269638	122269638	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr3:122269638A>C	ENST00000360356.2	-	6	1451	c.1224T>G	c.(1222-1224)caT>caG	p.H408Q	PARP9_ENST00000471785.1_Missense_Mutation_p.H373Q|PARP9_ENST00000477522.2_Missense_Mutation_p.H373Q|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000462315.1_Missense_Mutation_p.H373Q	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	408	Macro 2. {ECO:0000255|PROSITE- ProRule:PRU00490}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CCTTCATTGCATGTTTTAATA	0.378																																						uc010hri.2		NA																	0				ovary(1)|pancreas(1)|prostate(1)|skin(1)	4						c.(1222-1224)CAT>CAG		poly (ADP-ribose) polymerase family, member 9							66.0	65.0	66.0					3																	122269638		2203	4300	6503	SO:0001583	missense	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122269638A>C	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.1224T>G	3.37:g.122269638A>C	ENSP00000353512:p.His408Gln					PARP9_uc003eff.3_Missense_Mutation_p.H373Q|PARP9_uc011bjs.1_Missense_Mutation_p.H373Q|PARP9_uc003efg.2_Intron|PARP9_uc003efi.2_Missense_Mutation_p.H373Q|PARP9_uc003efh.2_Missense_Mutation_p.H408Q|PARP9_uc003efj.2_Missense_Mutation_p.H373Q	p.H408Q	NM_001146102	NP_001139574	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	6	1369	-			408			Macro 2.		A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	c.1224T>G	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	A	3.744	-0.053029	0.07362	.	.	ENSG00000138496	ENST00000360356;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	4.26	-1.78	0.07957	Appr-1-p processing (3);	2.611610	0.00921	N	0.002589	T	0.11750	0.0286	N	0.08118	0	0.09310	N	1	B;B;B	0.19200	0.005;0.016;0.034	B;B;B	0.19391	0.001;0.01;0.025	T	0.25779	-1.0122	10	0.23891	T	0.37	.	8.6011	0.33745	0.27:0.6028:0.0:0.1272	.	373;408;373	E9PFM7;Q8IXQ6;Q8IXQ6-2	.;PARP9_HUMAN;.	Q	408;373;373;331;373	ENSP00000353512:H408Q;ENSP00000419506:H373Q;ENSP00000419001:H373Q;ENSP00000418894:H373Q	ENSP00000353512:H408Q	H	-	3	2	PARP9	123752328	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-1.189000	0.03061	-0.041000	0.13558	-0.316000	0.08728	CAT		0.378	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		23	64	0	0	0	0	23	64				
ROPN1	54763	broad.mit.edu	37	3	123695771	123695771	+	Silent	SNP	T	T	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr3:123695771T>C	ENST00000184183.4	-	4	514	c.174A>G	c.(172-174)cgA>cgG	p.R58R	ROPN1_ENST00000405845.3_Silent_p.R58R	NM_017578.2	NP_060048.2	Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1	58						cytoplasm (GO:0005737)|nucleus (GO:0005634)				lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		ACAAAGCGACTCGCTCAGACC	0.517																																						uc003eha.2		NA																	0				ovary(1)|skin(1)	2						c.(172-174)CGA>CGG		ropporin							97.0	91.0	93.0					3																	123695771		2203	4300	6503	SO:0001819	synonymous_variant	54763				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr3:123695771T>C	AF231410	CCDS3026.1	3q21.1	2011-01-20	2011-01-20			ENSG00000065371			17692	protein-coding gene	gene with protein product	"""cancer/testis antigen 91"""	611757	"""ropporin, rhophilin associated protein 1"""			10591629	Standard	NM_017578		Approved	ODF6, ropporin, ROPN1A, CT91	uc003eha.3	Q9HAT0		ENST00000184183.4:c.174A>G	3.37:g.123695771T>C							p.R58R	NM_017578	NP_060048	Q9HAT0	ROP1A_HUMAN		GBM - Glioblastoma multiforme(114;0.148)	4	515	-			58					D3DN99|Q9UF38	Silent	SNP	ENST00000184183.4	37	c.174A>G	CCDS3026.1																																																																																				0.517	ROPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356188.2	NM_017578		44	106	0	0	0	0	44	106				
SNX4	8723	broad.mit.edu	37	3	125176125	125176125	+	Silent	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr3:125176125C>T	ENST00000251775.4	-	11	1053	c.1029G>A	c.(1027-1029)gaG>gaA	p.E343E	SNX4_ENST00000536067.1_Silent_p.E198E	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	343					endocytic recycling (GO:0032456)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|early endosome membrane (GO:0031901)|membrane (GO:0016020)|protein complex (GO:0043234)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						TTACCAGTTCCTCACACTGCT	0.458																																						uc003eib.2		NA																	0				breast(2)|ovary(1)|central_nervous_system(1)	4						c.(1027-1029)GAG>GAA		sorting nexin 4							182.0	147.0	159.0					3																	125176125		2203	4300	6503	SO:0001819	synonymous_variant	8723				cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding	g.chr3:125176125C>T	AF065485	CCDS3032.1	3q21.2	2014-02-12			ENSG00000114520	ENSG00000114520		"""Sorting nexins"""	11175	protein-coding gene	gene with protein product		605931				9819414	Standard	NM_003794		Approved	ATG24B	uc003eib.4	O95219	OTTHUMG00000159575	ENST00000251775.4:c.1029G>A	3.37:g.125176125C>T						SNX4_uc011bkf.1_Silent_p.E198E	p.E343E	NM_003794	NP_003785	O95219	SNX4_HUMAN			11	1071	-			343					B3KMH0|B4DQV4|D3DNA3	Silent	SNP	ENST00000251775.4	37	c.1029G>A	CCDS3032.1																																																																																				0.458	SNX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356299.1	NM_003794		39	111	0	0	0	0	39	111				
COL6A6	131873	broad.mit.edu	37	3	130289727	130289727	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr3:130289727G>C	ENST00000358511.6	+	6	2498	c.2467G>C	c.(2467-2469)Gat>Cat	p.D823H	COL6A6_ENST00000453409.2_Missense_Mutation_p.D823H	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	823	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TATTGACTATGATGAGTATAA	0.398																																						uc010htl.2		NA																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(2467-2469)GAT>CAT		collagen type VI alpha 6 precursor							87.0	91.0	90.0					3																	130289727		1872	4123	5995	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130289727G>C	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2467G>C	3.37:g.130289727G>C	ENSP00000351310:p.Asp823His						p.D823H	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			6	2498	+			823			VWFA 5.|Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.2467G>C	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	8.662	0.900750	0.17686	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.79033	-1.23;-1.23	4.79	-1.78	0.07957	von Willebrand factor, type A (3);	0.663319	0.13822	N	0.360325	T	0.69097	0.3073	L	0.48260	1.515	0.09310	N	1	P	0.40731	0.728	B	0.43575	0.424	T	0.60444	-0.7262	10	0.44086	T	0.13	.	6.6937	0.23187	0.5708:0.136:0.2932:0.0	.	823	A6NMZ7	CO6A6_HUMAN	H	823	ENSP00000351310:D823H;ENSP00000399236:D823H	ENSP00000351310:D823H	D	+	1	0	COL6A6	131772417	0.000000	0.05858	0.009000	0.14445	0.271000	0.26615	-0.695000	0.05109	-0.181000	0.10619	-0.258000	0.10820	GAT		0.398	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		30	84	0	0	0	0	30	84				
TM4SF1	4071	broad.mit.edu	37	3	149089577	149089577	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr3:149089577G>A	ENST00000305366.3	-	4	808	c.491C>T	c.(490-492)tCt>tTt	p.S164F	TM4SF1_ENST00000472441.1_Missense_Mutation_p.S75F	NM_014220.2	NP_055035.1	P30408	T4S1_HUMAN	transmembrane 4 L six family member 1	164						integral component of plasma membrane (GO:0005887)		p.S164C(1)		endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CAAGAGGATAGAAAACAGAGA	0.433																																						uc003exb.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(490-492)TCT>TTT		transmembrane 4 superfamily member 1							129.0	117.0	121.0					3																	149089577		2203	4300	6503	SO:0001583	missense	4071					integral to plasma membrane		g.chr3:149089577G>A	M90657	CCDS3143.1	3q21-q25	2005-03-21	2005-03-21		ENSG00000169908	ENSG00000169908			11853	protein-coding gene	gene with protein product		191155	"""transmembrane 4 superfamily member 1"""	M3S1		1565644	Standard	NM_014220		Approved	L6	uc003exb.1	P30408	OTTHUMG00000159597	ENST00000305366.3:c.491C>T	3.37:g.149089577G>A	ENSP00000304277:p.Ser164Phe					TM4SF1_uc003exc.1_Missense_Mutation_p.S75F	p.S164F	NM_014220	NP_055035	P30408	T4S1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		4	725	-			164			Helical; (Probable).		Q6IB51	Missense_Mutation	SNP	ENST00000305366.3	37	c.491C>T	CCDS3143.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099581	0.76983	.	.	ENSG00000169908	ENST00000305366;ENST00000472441;ENST00000383054	T;T	0.37584	1.19;1.19	5.92	5.04	0.67666	.	0.074494	0.56097	D	0.000024	T	0.58409	0.2120	M	0.68952	2.095	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.58999	-0.7536	10	0.62326	D	0.03	-14.3898	15.3881	0.74718	0.0675:0.0:0.9325:0.0	.	75;164	C9J611;P30408	.;T4S1_HUMAN	F	164;75;164	ENSP00000304277:S164F;ENSP00000417084:S75F	ENSP00000304277:S164F	S	-	2	0	TM4SF1	150572267	1.000000	0.71417	0.995000	0.50966	0.913000	0.54294	4.666000	0.61554	2.810000	0.96702	0.650000	0.86243	TCT		0.433	TM4SF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356368.1			46	90	0	0	0	0	46	90				
ACTL6A	86	broad.mit.edu	37	3	179291189	179291189	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr3:179291189G>A	ENST00000429709.2	+	4	523	c.310G>A	c.(310-312)Gat>Aat	p.D104N	ACTL6A_ENST00000450518.2_Missense_Mutation_p.D62N|ACTL6A_ENST00000392662.1_Missense_Mutation_p.D62N	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	104					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			AGCTATTTTGGATCATACCTA	0.358																																						uc003fjw.2		NA																	0				ovary(1)	1						c.(310-312)GAT>AAT		actin-like 6A isoform 1							100.0	98.0	99.0					3																	179291189		2203	4300	6503	SO:0001583	missense	86				chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding	g.chr3:179291189G>A	AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"""INO80 complex subunits"""	24124	protein-coding gene	gene with protein product	"""BAF complex 53 kDa subunit"", ""BRG1-associated factor"", ""actin-related protein 4"", ""INO80 complex subunit K"""	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.310G>A	3.37:g.179291189G>A	ENSP00000397552:p.Asp104Asn					ACTL6A_uc003fjx.2_Missense_Mutation_p.D62N|ACTL6A_uc003fjy.2_Missense_Mutation_p.D62N	p.D104N	NM_004301	NP_004292	O96019	ACL6A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)		4	483	+	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		104					B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Missense_Mutation	SNP	ENST00000429709.2	37	c.310G>A	CCDS3231.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290352	0.80914	.	.	ENSG00000136518	ENST00000429709;ENST00000450518;ENST00000392662	D;D;D	0.97505	-4.41;-4.41;-4.41	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.93923	0.8055	N	0.20766	0.605	0.80722	D	1	B	0.18968	0.032	B	0.22152	0.038	D	0.89593	0.3829	10	0.32370	T	0.25	.	19.8737	0.96861	0.0:0.0:1.0:0.0	.	104	O96019	ACL6A_HUMAN	N	104;62;62	ENSP00000397552:D104N;ENSP00000394014:D62N;ENSP00000376430:D62N	ENSP00000376430:D62N	D	+	1	0	ACTL6A	180773883	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.690000	0.98676	2.693000	0.91896	0.650000	0.86243	GAT		0.358	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349599.1	NM_004301		40	98	0	0	0	0	40	98				
ATP13A4	84239	broad.mit.edu	37	3	193220338	193220338	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr3:193220338G>C	ENST00000342695.4	-	3	647	c.325C>G	c.(325-327)Ctc>Gtc	p.L109V	ATP13A4_ENST00000295548.3_Missense_Mutation_p.L109V|ATP13A4_ENST00000392443.3_Missense_Mutation_p.L109V	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	109						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TCTGTCATGAGAGGGTGGTCA	0.398																																						uc003ftd.2		NA																	0				ovary(2)	2						c.(325-327)CTC>GTC		ATPase type 13A4							145.0	127.0	133.0					3																	193220338		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193220338G>C	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.325C>G	3.37:g.193220338G>C	ENSP00000339182:p.Leu109Val					ATP13A4_uc003fte.1_Missense_Mutation_p.L109V|ATP13A4_uc011bsr.1_5'UTR	p.L109V	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	3	433	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		109			Extracellular (Potential).		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.325C>G	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.349158	0.01266	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	T;T;T	0.36699	1.24;1.24;1.24	5.58	1.67	0.24075	.	0.846789	0.10298	N	0.691460	T	0.27765	0.0683	L	0.47716	1.5	0.24276	N	0.995223	B;B	0.06786	0.0;0.001	B;B	0.15052	0.004;0.012	T	0.34030	-0.9845	10	0.18710	T	0.47	-0.5743	6.005	0.19541	0.0665:0.3019:0.4474:0.1842	.	109;109	Q4VNC1-2;Q4VNC1	.;AT134_HUMAN	V	109	ENSP00000376238:L109V;ENSP00000339182:L109V;ENSP00000295548:L109V	ENSP00000295548:L109V	L	-	1	0	ATP13A4	194703032	0.147000	0.22687	0.990000	0.47175	0.036000	0.12997	-0.525000	0.06214	-0.188000	0.10499	-1.268000	0.01426	CTC		0.398	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		60	122	0	0	0	0	60	122				
ADD1	118	broad.mit.edu	37	4	2896318	2896318	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr4:2896318A>C	ENST00000398129.1	+	5	621	c.601A>C	c.(601-603)Aat>Cat	p.N201H	ADD1_ENST00000513328.2_Missense_Mutation_p.N201H|ADD1_ENST00000355842.3_Missense_Mutation_p.N201H|ADD1_ENST00000446856.1_Missense_Mutation_p.N201H|ADD1_ENST00000398125.1_Missense_Mutation_p.N201H|ADD1_ENST00000398123.2_Missense_Mutation_p.N201H|ADD1_ENST00000503455.2_Missense_Mutation_p.N201H|ADD1_ENST00000264758.7_Missense_Mutation_p.N201H			P35611	ADDA_HUMAN	adducin 1 (alpha)	201					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGTTAAGATCAATCTACAAGG	0.368																																					Esophageal Squamous(71;505 1201 20414 34538 37449)	uc003gfr.2		NA																	0				ovary(1)	1						c.(601-603)AAT>CAT		adducin 1 (alpha) isoform a							42.0	41.0	41.0					4																	2896318		2203	4300	6503	SO:0001583	missense	118				actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	g.chr4:2896318A>C	L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.601A>C	4.37:g.2896318A>C	ENSP00000381197:p.Asn201His					ADD1_uc003gfn.2_Intron|ADD1_uc010ico.1_Missense_Mutation_p.N201H|ADD1_uc003gfo.2_Missense_Mutation_p.N201H|ADD1_uc003gfp.2_Missense_Mutation_p.N201H|ADD1_uc003gfq.2_Missense_Mutation_p.N201H|ADD1_uc003gfs.2_Missense_Mutation_p.N201H|ADD1_uc003gft.3_Missense_Mutation_p.N201H|ADD1_uc003gfu.2_5'UTR	p.N201H	NM_001119	NP_001110	P35611	ADDA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	6	789	+			201					A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	ENST00000398129.1	37	c.601A>C	CCDS43205.1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.711445	0.68730	.	.	ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398125;ENST00000398124;ENST00000513328;ENST00000508277;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129	T;T;T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;1.83;0.85;0.85;0.85;0.85	5.7	5.7	0.88788	Class II aldolase/adducin, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.71871	0.3391	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D;P;D	0.71674	0.99;0.997;0.966;0.99;0.998;0.912;0.991	D;D;D;D;D;P;D	0.71184	0.972;0.958;0.962;0.972;0.94;0.76;0.948	T	0.77335	-0.2626	10	0.87932	D	0	-28.4131	15.9599	0.79923	1.0:0.0:0.0:0.0	.	201;201;201;201;201;201;201	E7ENY0;B4DI79;Q86XM2;P35611;P35611-3;P35611-2;A2A3N8	.;.;.;ADDA_HUMAN;.;.;.	H	201;201;201;201;201;96;201;201;201;201	ENSP00000264758:N201H;ENSP00000399828:N201H;ENSP00000381193:N201H;ENSP00000421907:N201H;ENSP00000426700:N96H;ENSP00000423024:N201H;ENSP00000348100:N201H;ENSP00000381191:N201H;ENSP00000381197:N201H	ENSP00000264758:N201H	N	+	1	0	ADD1	2866116	1.000000	0.71417	0.110000	0.21437	0.459000	0.32528	7.437000	0.80417	2.173000	0.68751	0.482000	0.46254	AAT		0.368	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189		16	30	0	0	0	0	16	30				
NPFFR2	10886	broad.mit.edu	37	4	73012714	73012714	+	Missense_Mutation	SNP	C	C	A	rs371534224		TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr4:73012714C>A	ENST00000308744.6	+	4	852	c.754C>A	c.(754-756)Cct>Act	p.P252T	NPFFR2_ENST00000395999.1_Missense_Mutation_p.P153T|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.P150T	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	252					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TGTGGTCTACCCTTTTAAACC	0.378																																						uc003hgg.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(754-756)CCT>ACT		neuropeptide FF receptor 2 isoform 1							196.0	197.0	197.0					4																	73012714		2203	4300	6503	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:73012714C>A	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.754C>A	4.37:g.73012714C>A	ENSP00000307822:p.Pro252Thr					NPFFR2_uc010iig.1_Missense_Mutation_p.P34T|NPFFR2_uc003hgi.2_Missense_Mutation_p.P153T|NPFFR2_uc003hgh.2_Missense_Mutation_p.P150T|NPFFR2_uc003hgj.2_RNA	p.P252T	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		4	852	+			252			Cytoplasmic (Potential).		Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.754C>A	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.381434	0.61845	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.61392	0.11;0.11;0.11	5.81	5.81	0.92471	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000031	D	0.84763	0.5544	H	0.96398	3.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88915	0.3362	10	0.87932	D	0	.	19.6782	0.95945	0.0:1.0:0.0:0.0	.	153;252	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	T	252;153;150	ENSP00000307822:P252T;ENSP00000379321:P153T;ENSP00000351599:P150T	ENSP00000307822:P252T	P	+	1	0	NPFFR2	73231578	1.000000	0.71417	1.000000	0.80357	0.231000	0.25187	5.969000	0.70422	2.751000	0.94390	0.650000	0.86243	CCT		0.378	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		98	280	1	0	3.78e-48	4.31e-48	98	280				
RAP1GDS1	5910	broad.mit.edu	37	4	99358174	99358174	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr4:99358174A>G	ENST00000408927.3	+	14	1764	c.1651A>G	c.(1651-1653)Atc>Gtc	p.I551V	RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.I502V|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.I460V|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.I552V|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.I551V|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.I503V	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	551					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TGCTCCTGAAATCAAATATAA	0.343			T	NUP98	T-ALL																																	uc003htx.3		NA		Dom	yes		4	4q21-q25	5910	T	"""RAP1, GTP-GDP dissociation stimulator 1"""			L	NUP98		T-ALL		0				ovary(1)|lung(1)|breast(1)	3						c.(1651-1653)ATC>GTC		RAP1, GTP-GDP dissociation stimulator 1 isoform							118.0	113.0	115.0					4																	99358174		1848	4088	5936	SO:0001583	missense	5910						binding|GTPase activator activity	g.chr4:99358174A>G		CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.1651A>G	4.37:g.99358174A>G	ENSP00000386153:p.Ile551Val					RAP1GDS1_uc003htw.3_Missense_Mutation_p.I552V|RAP1GDS1_uc003htv.3_Missense_Mutation_p.I551V|RAP1GDS1_uc003htz.3_Missense_Mutation_p.I502V|RAP1GDS1_uc003hty.3_Missense_Mutation_p.I503V|RAP1GDS1_uc003hua.3_Missense_Mutation_p.I460V	p.I551V	NM_001100427	NP_001093897	P52306	GDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)	14	1841	+			551					E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	37	c.1651A>G	CCDS43253.1	.	.	.	.	.	.	.	.	.	.	A	7.448	0.642000	0.14451	.	.	ENSG00000138698	ENST00000380158;ENST00000264572;ENST00000408927;ENST00000453712;ENST00000408900;ENST00000339360	T;T;T;T;T;T	0.41400	1.0;1.64;1.0;1.0;1.0;1.0	5.96	5.96	0.96718	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.33731	0.0873	N	0.03608	-0.345	0.54753	D	0.99998	B;P;P;B;B;B	0.38863	0.14;0.65;0.518;0.015;0.032;0.066	B;P;P;B;B;B	0.54140	0.04;0.743;0.558;0.002;0.011;0.016	T	0.22730	-1.0208	10	0.05436	T	0.98	-8.7307	16.4338	0.83864	1.0:0.0:0.0:0.0	.	460;502;503;551;552;551	E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9	.;.;.;GDS1_HUMAN;.;.	V	503;460;551;551;502;552	ENSP00000369503:I503V;ENSP00000264572:I460V;ENSP00000386153:I551V;ENSP00000407157:I551V;ENSP00000386223:I502V;ENSP00000340454:I552V	ENSP00000264572:I460V	I	+	1	0	RAP1GDS1	99577197	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.350000	0.90069	2.270000	0.75569	0.533000	0.62120	ATC		0.343	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426		37	59	0	0	0	0	37	59				
FBXO8	26269	broad.mit.edu	37	4	175160279	175160279	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr4:175160279G>A	ENST00000393674.2	-	5	1500	c.638C>T	c.(637-639)gCa>gTa	p.A213V	FBXO8_ENST00000503293.1_Missense_Mutation_p.A172V	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	213	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell junction (GO:0030054)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		TTCTCTCAGTGCATTTGGCAA	0.378																																						uc003itp.2		NA																	0				breast(2)	2						c.(637-639)GCA>GTA		F-box only protein 8							76.0	78.0	77.0					4																	175160279		2203	4300	6503	SO:0001583	missense	26269				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity	g.chr4:175160279G>A	AF174596	CCDS3820.1	4q34.1	2008-02-05	2004-06-15			ENSG00000164117		"""F-boxes /  ""other"""""	13587	protein-coding gene	gene with protein product		605649	"""F-box only protein 8"""			10531035, 10531037	Standard	NM_012180		Approved	FBX8, FBS	uc003itp.3	Q9NRD0		ENST00000393674.2:c.638C>T	4.37:g.175160279G>A	ENSP00000377280:p.Ala213Val					FBXO8_uc003itq.2_Missense_Mutation_p.A172V	p.A213V	NM_012180	NP_036312	Q9NRD0	FBX8_HUMAN		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)	5	1488	-		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)	213			SEC7.		B2RB40|D3DP41|G5E9Z0|Q6UWN4|Q8IWE1|Q9NRP5|Q9UKC4	Missense_Mutation	SNP	ENST00000393674.2	37	c.638C>T	CCDS3820.1	.	.	.	.	.	.	.	.	.	.	G	34	5.294266	0.95546	.	.	ENSG00000164117	ENST00000393674;ENST00000503293;ENST00000296517	T;T	0.66099	-0.19;-0.19	5.42	5.42	0.78866	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	D	0.85522	0.5716	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.993;0.994	D	0.89433	0.3718	10	0.87932	D	0	.	19.2289	0.93829	0.0:0.0:1.0:0.0	.	172;213	G5E9Z0;Q9NRD0	.;FBX8_HUMAN	V	213;172;126	ENSP00000377280:A213V;ENSP00000422905:A172V	ENSP00000296517:A126V	A	-	2	0	FBXO8	175396854	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.096000	0.94182	2.559000	0.86315	0.585000	0.79938	GCA		0.378	FBXO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362085.2	NM_012180		17	80	0	0	0	0	17	80				
WDR17	116966	broad.mit.edu	37	4	177067239	177067239	+	Silent	SNP	T	T	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr4:177067239T>C	ENST00000280190.4	+	13	1851	c.1695T>C	c.(1693-1695)caT>caC	p.H565H	WDR17_ENST00000508596.1_Silent_p.H541H|WDR17_ENST00000393643.2_Silent_p.H541H|WDR17_ENST00000507824.2_Silent_p.H548H			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	565										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTAGTGGGCATACAGCAAAAG	0.388																																						uc003iuj.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(1693-1695)CAT>CAC		WD repeat domain 17 isoform 1							153.0	146.0	148.0					4																	177067239		2203	4300	6503	SO:0001819	synonymous_variant	116966							g.chr4:177067239T>C	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1695T>C	4.37:g.177067239T>C						WDR17_uc003iuk.2_Silent_p.H541H|WDR17_uc003ium.3_Silent_p.H541H|WDR17_uc003iul.1_Intron	p.H565H	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	13	1851	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	565			WD 10.		E7EQX0|Q0QD35	Silent	SNP	ENST00000280190.4	37	c.1695T>C	CCDS3825.1																																																																																				0.388	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			40	166	0	0	0	0	40	166				
PLEKHG4B	153478	broad.mit.edu	37	5	171356	171356	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr5:171356A>G	ENST00000283426.6	+	14	2829	c.2779A>G	c.(2779-2781)Atg>Gtg	p.M927V		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	927	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			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)		AGGTGACAAAATGGACCTGGC	0.697																																						uc003jak.2		NA																	0				skin(2)	2						c.(2779-2781)ATG>GTG		pleckstrin homology domain containing, family G							27.0	28.0	27.0					5																	171356		2202	4298	6500	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:171356A>G	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.2779A>G	5.37:g.171356A>G	ENSP00000283426:p.Met927Val						p.M927V	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	14	2829	+			927			DH.			Missense_Mutation	SNP	ENST00000283426.6	37	c.2779A>G	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	A	14.75	2.629105	0.46944	.	.	ENSG00000153404	ENST00000283426	T	0.61742	0.08	2.92	2.92	0.33932	Dbl homology (DH) domain (5);	.	.	.	.	T	0.69433	0.3110	M	0.71871	2.18	0.35803	D	0.823254	D	0.59357	0.985	D	0.64877	0.93	T	0.75249	-0.3384	9	0.56958	D	0.05	.	8.9307	0.35668	1.0:0.0:0.0:0.0	.	927	Q96PX9	PKH4B_HUMAN	V	927	ENSP00000283426:M927V	ENSP00000283426:M927V	M	+	1	0	PLEKHG4B	224356	1.000000	0.71417	0.988000	0.46212	0.904000	0.53231	5.849000	0.69465	0.949000	0.37715	0.260000	0.18958	ATG		0.697	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		46	19	0	0	0	0	46	19				
FASTKD3	79072	broad.mit.edu	37	5	7867445	7867445	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr5:7867445A>T	ENST00000264669.5	-	2	888	c.752T>A	c.(751-753)tTt>tAt	p.F251Y	MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000341013.6_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	251					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTCCGGGGTAAATGTTTCCAA	0.363																																						uc003jeb.2		NA																	0				ovary(2)|breast(1)|pancreas(1)	4						c.(751-753)TTT>TAT		FAST kinase domains 3							80.0	85.0	84.0					5																	7867445		2203	4300	6503	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7867445A>T	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.752T>A	5.37:g.7867445A>T	ENSP00000264669:p.Phe251Tyr					FASTKD3_uc011cmp.1_5'UTR|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank	p.F251Y	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN			2	889	-			251					Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.752T>A	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.282645	0.59867	.	.	ENSG00000124279	ENST00000264669	T	0.28255	1.62	4.85	3.68	0.42216	.	0.351696	0.35555	N	0.003136	T	0.24198	0.0586	M	0.68317	2.08	0.28892	N	0.893783	P	0.35656	0.514	B	0.30401	0.115	T	0.16453	-1.0402	10	0.06757	T	0.87	-9.3953	10.0107	0.41984	0.6146:0.3854:0.0:0.0	.	251	Q14CZ7	FAKD3_HUMAN	Y	251	ENSP00000264669:F251Y	ENSP00000264669:F251Y	F	-	2	0	FASTKD3	7920445	1.000000	0.71417	0.004000	0.12327	0.735000	0.41995	4.325000	0.59234	2.024000	0.59613	0.528000	0.53228	TTT		0.363	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		43	296	0	0	0	0	43	296				
CDH10	1008	broad.mit.edu	37	5	24498538	24498538	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr5:24498538G>T	ENST00000264463.4	-	9	1991	c.1484C>A	c.(1483-1485)aCt>aAt	p.T495N	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	495	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ACATACAAAAGTGTCATAGAA	0.393										HNSCC(23;0.051)																												uc003jgr.1		NA																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(1483-1485)ACT>AAT		cadherin 10, type 2 preproprotein							71.0	68.0	69.0					5																	24498538		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24498538G>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1484C>A	5.37:g.24498538G>T	ENSP00000264463:p.Thr495Asn	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.T495N	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	9	1816	-			495			Cadherin 5.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1484C>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.695570	0.88830	.	.	ENSG00000040731	ENST00000264463	T	0.52526	0.66	5.53	5.53	0.82687	Cadherin (3);Cadherin-like (1);	0.049848	0.85682	D	0.000000	T	0.66509	0.2796	M	0.91972	3.26	0.54753	D	0.999987	P	0.40681	0.727	P	0.45310	0.476	T	0.74390	-0.3681	10	0.66056	D	0.02	.	18.4486	0.90695	0.0:0.0:1.0:0.0	.	495	Q9Y6N8	CAD10_HUMAN	N	495	ENSP00000264463:T495N	ENSP00000264463:T495N	T	-	2	0	CDH10	24534295	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.415000	0.97375	2.613000	0.88420	0.655000	0.94253	ACT		0.393	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		27	232	1	0	4.23e-11	4.66e-11	27	232				
CDH10	1008	broad.mit.edu	37	5	24498580	24498580	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr5:24498580T>A	ENST00000264463.4	-	9	1949	c.1442A>T	c.(1441-1443)gAt>gTt	p.D481V	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	481	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTCATTAACATCCAAAATTCT	0.408										HNSCC(23;0.051)																												uc003jgr.1		NA																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(1441-1443)GAT>GTT		cadherin 10, type 2 preproprotein							82.0	80.0	81.0					5																	24498580		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24498580T>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1442A>T	5.37:g.24498580T>A	ENSP00000264463:p.Asp481Val	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.D481V	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	9	1774	-			481			Cadherin 4.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1442A>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.475687	0.84640	.	.	ENSG00000040731	ENST00000264463	T	0.68025	-0.3	5.53	5.53	0.82687	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.89715	0.6795	H	0.99582	4.64	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.93971	0.7249	10	0.87932	D	0	.	14.8416	0.70230	0.0:0.0:0.0:1.0	.	481	Q9Y6N8	CAD10_HUMAN	V	481	ENSP00000264463:D481V	ENSP00000264463:D481V	D	-	2	0	CDH10	24534337	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.650000	0.83521	2.112000	0.64535	0.533000	0.62120	GAT		0.408	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		33	238	0	0	0	0	33	238				
PDZD2	23037	broad.mit.edu	37	5	32058193	32058193	+	Silent	SNP	A	A	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr5:32058193A>G	ENST00000438447.1	+	12	2572	c.2184A>G	c.(2182-2184)gaA>gaG	p.E728E	PDZD2_ENST00000282493.3_Silent_p.E728E			O15018	PDZD2_HUMAN	PDZ domain containing 2	728	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCGTCATGGAAGTAACACTCA	0.468																																						uc003jhl.2		NA																	0				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(2182-2184)GAA>GAG		PDZ domain containing 2							39.0	38.0	38.0					5																	32058193		2203	4300	6503	SO:0001819	synonymous_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32058193A>G	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.2184A>G	5.37:g.32058193A>G						PDZD2_uc003jhm.2_Silent_p.E728E|PDZD2_uc011cnx.1_Silent_p.E554E	p.E728E	NM_178140	NP_835260	O15018	PDZD2_HUMAN			12	2572	+			728			PDZ 4.		Q9BXD4	Silent	SNP	ENST00000438447.1	37	c.2184A>G	CCDS34137.1																																																																																				0.468	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			10	102	0	0	0	0	10	102				
TRPC7	57113	broad.mit.edu	37	5	135587503	135587503	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr5:135587503C>T	ENST00000513104.1	-	6	1695	c.1413G>A	c.(1411-1413)tgG>tgA	p.W471*	TRPC7_ENST00000426057.2_Nonsense_Mutation_p.W355*|TRPC7_ENST00000355180.3_Nonsense_Mutation_p.W410*	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	471					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTAGCAGGTTCCACAAGTGCA	0.567																																						uc003lbn.1		NA																	0					0						c.(1408-1410)TGG>TGA		transient receptor potential cation channel,							91.0	100.0	97.0					5																	135587503		2109	4234	6343	SO:0001587	stop_gained	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135587503C>T	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.1413G>A	5.37:g.135587503C>T	ENSP00000426070:p.Trp471*					TRPC7_uc010jef.1_Nonsense_Mutation_p.W407*|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Nonsense_Mutation_p.W401*|TRPC7_uc010jei.1_Nonsense_Mutation_p.W346*|TRPC7_uc010jej.1_Nonsense_Mutation_p.W22*	p.W470*	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		5	1413	-			471			Helical; (Potential).		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Nonsense_Mutation	SNP	ENST00000513104.1	37	c.1410G>A	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.264984|6.264984	0.97426|0.97426	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753|ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	.|.	.|.	.|.	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	.|0.123727	.|0.64402	.|D	.|0.000014	T|.	0.45915|.	0.1366|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38520|.	-0.9657|.	3|.	.|0.02654	.|T	.|1	-7.6965|-7.6965	18.294|18.294	0.90139|0.90139	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	K|X	355;410;416|410;355;471;471	.|.	.|ENSP00000265193:W471X	E|W	-|-	1|3	0|0	TRPC7|TRPC7	135615402|135615402	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.595000|7.595000	0.82710|0.82710	2.563000|2.563000	0.86464|0.86464	0.650000|0.650000	0.86243|0.86243	GAA|TGG		0.567	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		32	47	0	0	0	0	32	47				
HIVEP1	3096	broad.mit.edu	37	6	12015862	12015862	+	Start_Codon_SNP	SNP	A	A	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr6:12015862A>T	ENST00000379388.2	+	2	333	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	HIVEP1_ENST00000484210.1_Start_Codon_SNP_p.M1L	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GTCAAAGAAGATGCCTCGAAC	0.358																																						uc003nac.2		NA																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(1-3)ATG>TTG		human immunodeficiency virus type I enhancer							126.0	121.0	123.0					6																	12015862		1831	4090	5921	SO:0001582	initiator_codon_variant	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12015862A>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.1A>T	6.37:g.12015862A>T	ENSP00000368698:p.Met1Leu						p.M1L	NM_002114	NP_002105	P15822	ZEP1_HUMAN			2	180	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.1A>T	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.535714	0.64972	.	.	ENSG00000095951	ENST00000491710;ENST00000487103;ENST00000379388;ENST00000478545;ENST00000484210	T	0.09538	2.97	5.42	5.42	0.78866	.	.	.	.	.	T	0.22781	0.0550	.	.	.	0.80722	D	1	D	0.58970	0.984	D	0.68192	0.956	T	0.01198	-1.1421	8	0.87932	D	0	-10.8271	13.4139	0.60958	1.0:0.0:0.0:0.0	.	1	P15822	ZEP1_HUMAN	L	1	ENSP00000368698:M1L	ENSP00000368698:M1L	M	+	1	0	HIVEP1	12123848	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.630000	0.67805	2.052000	0.61016	0.533000	0.62120	ATG		0.358	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114	Missense_Mutation	33	103	0	0	0	0	33	103				
MCM3	4172	broad.mit.edu	37	6	52129395	52129395	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr6:52129395G>T	ENST00000229854.7	-	17	2494	c.2418C>A	c.(2416-2418)ttC>ttA	p.F806L	MCM3_ENST00000419835.2_Missense_Mutation_p.F760L|MCM3_ENST00000596288.1_Missense_Mutation_p.F851L			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	806					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CTCAGATGAGGAAGATGATGC	0.542																																						uc003pan.1		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(2416-2418)TTC>TTA		minichromosome maintenance complex component 3							167.0	139.0	149.0					6																	52129395		2203	4300	6503	SO:0001583	missense	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52129395G>T	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.2418C>A	6.37:g.52129395G>T	ENSP00000229854:p.Phe806Leu					MCM3_uc011dwu.1_Missense_Mutation_p.F760L	p.F806L	NM_002388	NP_002379	P25205	MCM3_HUMAN			17	2528	-	Lung NSC(77;0.0931)		806					B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	37	c.2418C>A		.	.	.	.	.	.	.	.	.	.	G	22.8	4.334343	0.81801	.	.	ENSG00000112118	ENST00000229854;ENST00000419835	T;T	0.61742	0.08;0.08	5.39	2.61	0.31194	.	0.000000	0.85682	D	0.000000	T	0.45637	0.1352	M	0.81497	2.545	0.80722	D	1	P;P	0.42078	0.77;0.569	B;B	0.39771	0.242;0.309	T	0.54403	-0.8299	10	0.59425	D	0.04	-21.7636	11.0795	0.48051	0.2047:0.0:0.7953:0.0	.	760;806	B4DUQ9;P25205	.;MCM3_HUMAN	L	806;760	ENSP00000229854:F806L;ENSP00000388647:F760L	ENSP00000229854:F806L	F	-	3	2	MCM3	52237354	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.477000	0.60223	0.836000	0.34901	0.655000	0.94253	TTC		0.542	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			36	112	1	0	3.63e-18	4.05e-18	36	112				
BAI3	577	broad.mit.edu	37	6	69703805	69703805	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr6:69703805C>A	ENST00000370598.1	+	11	2701	c.1880C>A	c.(1879-1881)aCa>aAa	p.T627K		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	627					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)				AGAAATGTGACAGACACATTT	0.443																																						uc003pev.3		NA																	0				lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(1879-1881)ACA>AAA		brain-specific angiogenesis inhibitor 3							122.0	121.0	121.0					6																	69703805		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69703805C>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.1880C>A	6.37:g.69703805C>A	ENSP00000359630:p.Thr627Lys					BAI3_uc010kak.2_Missense_Mutation_p.T627K	p.T627K	NM_001704	NP_001695	O60242	BAI3_HUMAN			11	2328	+		all_lung(197;0.212)	627			Extracellular (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.1880C>A	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	34	5.341304	0.95783	.	.	ENSG00000135298	ENST00000370598	T	0.10288	2.89	6.05	6.05	0.98169	Domain of unknown function DUF3497 (1);	0.000000	0.85682	D	0.000000	T	0.27205	0.0667	M	0.69358	2.11	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.00376	-1.1779	10	0.62326	D	0.03	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	627	O60242	BAI3_HUMAN	K	627	ENSP00000359630:T627K	ENSP00000359630:T627K	T	+	2	0	BAI3	69760526	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.794000	0.85869	2.878000	0.98634	0.650000	0.86243	ACA		0.443	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			46	122	1	0	1.17e-09	1.28e-09	46	122				
ZNF292	23036	broad.mit.edu	37	6	87969654	87969654	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr6:87969654G>C	ENST00000369577.3	+	8	6350	c.6307G>C	c.(6307-6309)Gag>Cag	p.E2103Q	ZNF292_ENST00000339907.4_Missense_Mutation_p.E2098Q	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2103						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CCAATCCCTTGAGTTTCCAAC	0.413																																						uc003plm.3		NA																	0				ovary(4)	4						c.(6307-6309)GAG>CAG		zinc finger protein 292							84.0	86.0	85.0					6																	87969654		1885	4095	5980	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87969654G>C	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6307G>C	6.37:g.87969654G>C	ENSP00000358590:p.Glu2103Gln						p.E2103Q	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	6348	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2103					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.6307G>C	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996738	0.74818	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.07800	3.16;3.17	5.77	5.77	0.91146	.	0.264889	0.43110	D	0.000602	T	0.14227	0.0344	L	0.53249	1.67	0.38330	D	0.943764	D	0.67145	0.996	P	0.60012	0.867	T	0.01345	-1.1379	10	0.34782	T	0.22	.	18.1692	0.89739	0.0:0.0:1.0:0.0	.	2103	O60281	ZN292_HUMAN	Q	2103;2098	ENSP00000358590:E2103Q;ENSP00000342847:E2098Q	ENSP00000342847:E2098Q	E	+	1	0	ZNF292	88026373	1.000000	0.71417	0.502000	0.27614	0.994000	0.84299	5.429000	0.66495	2.735000	0.93741	0.655000	0.94253	GAG		0.413	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		29	89	0	0	0	0	29	89				
MDN1	23195	broad.mit.edu	37	6	90385185	90385185	+	Silent	SNP	G	G	A	rs375471963		TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr6:90385185G>A	ENST00000369393.3	-	78	12874	c.12759C>T	c.(12757-12759)ctC>ctT	p.L4253L	RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000468568.1_5'Flank|MDN1_ENST00000428876.1_Silent_p.L4253L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4253					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCTGATACCTGAGGATGATCC	0.527																																						uc003pnn.1		NA																	0				ovary(8)|skin(2)	10						c.(12757-12759)CTC>CTT		MDN1, midasin homolog							79.0	62.0	68.0					6																	90385185		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90385185G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.12759C>T	6.37:g.90385185G>A							p.L4253L	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	78	12875	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	4253					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.12759C>T	CCDS5024.1																																																																																				0.527	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			29	69	0	0	0	0	29	69				
ASCC3	10973	broad.mit.edu	37	6	101037629	101037629	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr6:101037629C>T	ENST00000369162.2	-	36	5775	c.5431G>A	c.(5431-5433)Gaa>Aaa	p.E1811K		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1811					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTTAGAGGTTCAATGCTGCGA	0.343																																						uc003pqk.2		NA																	0				ovary(5)|skin(1)	6						c.(5431-5433)GAA>AAA		activating signal cointegrator 1 complex subunit							103.0	106.0	105.0					6																	101037629		2203	4300	6503	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101037629C>T	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.5431G>A	6.37:g.101037629C>T	ENSP00000358159:p.Glu1811Lys						p.E1811K	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	36	5760	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1811					E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.5431G>A	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.793376	0.31685	.	.	ENSG00000112249	ENST00000369162	T	0.42513	0.97	5.22	5.22	0.72569	Sec63 domain (1);	0.053706	0.64402	D	0.000001	T	0.25044	0.0608	L	0.58810	1.83	0.80722	D	1	B	0.24618	0.107	B	0.22386	0.039	T	0.18681	-1.0329	10	0.09338	T	0.73	.	19.1375	0.93433	0.0:1.0:0.0:0.0	.	1811	Q8N3C0	HELC1_HUMAN	K	1811	ENSP00000358159:E1811K	ENSP00000358159:E1811K	E	-	1	0	ASCC3	101144350	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.228000	0.58619	2.607000	0.88179	0.585000	0.79938	GAA		0.343	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		61	160	0	0	0	0	61	160				
TRAF3IP2	10758	broad.mit.edu	37	6	111913273	111913273	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr6:111913273G>A	ENST00000340026.6	-	3	638	c.44C>T	c.(43-45)cCt>cTt	p.P15L	TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.P6L|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000368761.5_Missense_Mutation_p.P6L			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	15	Mediates interaction with TRAF6.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		AACCTCCACAGGAATGCTTCG	0.423																																						uc011ebc.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(16-18)CCT>CTT		TRAF3 interacting protein 2 isoform 2							98.0	102.0	101.0					6																	111913273		2203	4300	6503	SO:0001583	missense	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111913273G>A	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.44C>T	6.37:g.111913273G>A	ENSP00000345984:p.Pro15Leu					TRAF3IP2_uc003pvg.2_Missense_Mutation_p.P6L|TRAF3IP2_uc003pvf.2_Missense_Mutation_p.P6L|TRAF3IP2_uc010kdw.2_Missense_Mutation_p.P6L|TRAF3IP2_uc010kdx.2_Missense_Mutation_p.P6L	p.P6L	NM_147686	NP_679211	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	3	632	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	15					B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Missense_Mutation	SNP	ENST00000340026.6	37	c.17C>T		.	.	.	.	.	.	.	.	.	.	G	23.2	4.382628	0.82792	.	.	ENSG00000056972	ENST00000392555;ENST00000368761;ENST00000340026;ENST00000359831	T;T;T	0.58358	0.4;0.37;0.34	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	T	0.66877	0.2834	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.997	T	0.69859	-0.5031	10	0.87932	D	0	.	17.5816	0.87970	0.0:0.0:1.0:0.0	.	15;6;6	O43734;O43734-2;Q7Z6Q1	CIKS_HUMAN;.;.	L	15;6;15;6	ENSP00000357750:P6L;ENSP00000345984:P15L;ENSP00000352889:P6L	ENSP00000345984:P15L	P	-	2	0	TRAF3IP2	112019966	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.394000	0.73223	2.588000	0.87417	0.561000	0.74099	CCT		0.423	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			48	125	0	0	0	0	48	125				
PAPOLB	56903	broad.mit.edu	37	7	4900071	4900071	+	Silent	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr7:4900071G>A	ENST00000404991.1	-	1	1554	c.1368C>T	c.(1366-1368)ctC>ctT	p.L456L	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	456					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TATCATAGGTGAGATCAATGC	0.363																																						uc003snk.2		NA																	0				ovary(1)	1						c.(1369-1371)CTC>CTT		poly(A) polymerase beta (testis specific)							83.0	86.0	85.0					7																	4900071		2120	4271	6391	SO:0001819	synonymous_variant	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4900071G>A	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.1368C>T	7.37:g.4900071G>A						RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	p.L457L	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	1555	-		Ovarian(82;0.0175)	456					Q75LH1|Q8NE14	Silent	SNP	ENST00000404991.1	37	c.1371C>T																																																																																					0.363	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		92	122	0	0	0	0	92	122				
POU6F2	11281	broad.mit.edu	37	7	39247047	39247047	+	Silent	SNP	C	C	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr7:39247047C>A	ENST00000403058.1	+	5	493	c.339C>A	c.(337-339)ggC>ggA	p.G113G	POU6F2_ENST00000518318.2_Silent_p.G113G|POU6F2_ENST00000559001.1_Silent_p.G105G|POU6F2_ENST00000517348.1_3'UTR	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	113					central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TGCCGGGAGGCCCCCCAGCCC	0.577																																						uc003thb.1		NA																	0				central_nervous_system(1)	1						c.(337-339)GGC>GGA		POU class 6 homeobox 2 isoform 1							100.0	103.0	102.0					7																	39247047		2203	4300	6503	SO:0001819	synonymous_variant	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39247047C>A	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.339C>A	7.37:g.39247047C>A						POU6F2_uc010kxo.2_Silent_p.G105G	p.G113G	NM_007252	NP_009183	P78424	PO6F2_HUMAN			4	381	+			113					A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Silent	SNP	ENST00000403058.1	37	c.339C>A	CCDS34620.2																																																																																				0.577	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		79	200	1	0	1.32e-37	1.5e-37	79	200				
STX1A	6804	broad.mit.edu	37	7	73115164	73115164	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr7:73115164T>A	ENST00000222812.3	-	9	711	c.685A>T	c.(685-687)Atg>Ttg	p.M229L	STX1A_ENST00000484736.1_5'UTR|STX1A_ENST00000395154.3_3'UTR|STX1A_ENST00000395155.3_Missense_Mutation_p.D259V|STX1A_ENST00000395156.3_Intron|WBSCR22_ENST00000423166.2_Intron	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	229	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				calcium ion-dependent exocytosis (GO:0017156)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of insulin secretion (GO:0050796)|response to gravity (GO:0009629)|secretion by cell (GO:0032940)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)	actomyosin (GO:0042641)|cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synaptic vesicle membrane (GO:0030672)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)	calcium channel inhibitor activity (GO:0019855)			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTGTCAATCATCTCTCCCTGC	0.627																																						uc003tyx.2		NA																	0					0						c.(685-687)ATG>TTG		syntaxin 1A isoform 1							90.0	73.0	79.0					7																	73115164		2203	4300	6503	SO:0001583	missense	6804				energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity	g.chr7:73115164T>A		CCDS34655.1, CCDS55120.1	7q11.2	2008-07-18			ENSG00000106089	ENSG00000106089			11433	protein-coding gene	gene with protein product		186590		STX1		1321498	Standard	NM_001165903		Approved	HPC-1, p35-1	uc003tyx.3	Q16623	OTTHUMG00000137422	ENST00000222812.3:c.685A>T	7.37:g.73115164T>A	ENSP00000222812:p.Met229Leu					WBSCR22_uc003tyw.1_Intron|STX1A_uc003tyy.2_Intron|STX1A_uc010lbj.1_Missense_Mutation_p.D259V	p.M229L	NM_004603	NP_004594	Q16623	STX1A_HUMAN			9	712	-		Lung NSC(55;0.0908)|all_lung(88;0.198)	229			Cytoplasmic (Potential).|t-SNARE coiled-coil homology.		O15447|O15448|Q12936|Q75MD9|Q7Z5K3|Q9BPZ6	Missense_Mutation	SNP	ENST00000222812.3	37	c.685A>T	CCDS34655.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.76|10.76	1.442153|1.442153	0.25987|0.25987	.|.	.|.	ENSG00000106089|ENSG00000106089	ENST00000395155|ENST00000222812	T|T	0.42513|0.21191	0.97|2.02	4.26|4.26	4.26|4.26	0.50523|0.50523	.|t-SNARE (1);Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);	.|0.047506	.|0.85682	.|D	.|0.000000	T|T	0.18425|0.18425	0.0442|0.0442	L|L	0.41824|0.41824	1.3|1.3	0.80722|0.80722	D|D	1|1	B|B	0.30021|0.14438	0.265|0.01	B|B	0.31191|0.19946	0.125|0.027	T|T	0.03673|0.03673	-1.1014|-1.1014	9|10	0.66056|0.40728	D|T	0.02|0.16	-55.0289|-55.0289	11.649|11.649	0.51277|0.51277	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	259|229	Q7Z5K3|Q16623	.|STX1A_HUMAN	V|L	259|229	ENSP00000378584:D259V|ENSP00000222812:M229L	ENSP00000378584:D259V|ENSP00000222812:M229L	D|M	-|-	2|1	0|0	STX1A|STX1A	72753100|72753100	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.569000|0.569000	0.35902|0.35902	4.686000|4.686000	0.61700|0.61700	1.916000|1.916000	0.55485|0.55485	0.379000|0.379000	0.24179|0.24179	GAT|ATG		0.627	STX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268422.1	NM_004603		13	23	0	0	0	0	13	23				
PCLO	27445	broad.mit.edu	37	7	82784471	82784471	+	Missense_Mutation	SNP	A	A	G	rs199515717		TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr7:82784471A>G	ENST00000333891.9	-	2	1823	c.1486T>C	c.(1486-1488)Tca>Cca	p.S496P	PCLO_ENST00000423517.2_Missense_Mutation_p.S496P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.S496P(6)|p.?(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTTTGCTGAGCCAGGCTGT	0.607																																						uc003uhx.2		NA																	9	Substitution - Missense(6)|Unknown(3)		kidney(6)|prostate(3)	ovary(7)	7						c.(1486-1488)TCA>CCA		piccolo isoform 1		A	PRO/SER,PRO/SER	0,3888		0,0,1944	89.0	98.0	95.0		1486,1486	-0.1	0.0	7		95	1,8267		0,1,4133	no	missense,missense	PCLO	NM_014510.2,NM_033026.5	74,74	0,1,6077	GG,GA,AA		0.0121,0.0,0.0082	benign,benign	496/4936,496/5143	82784471	1,12155	1944	4134	6078	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784471A>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1486T>C	7.37:g.82784471A>G	ENSP00000334319:p.Ser496Pro					PCLO_uc003uhv.2_Missense_Mutation_p.S496P	p.S496P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			2	1775	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						Missense_Mutation	SNP	ENST00000333891.9	37	c.1486T>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	0.210	-1.037056	0.02013	0.0	1.21E-4	ENSG00000186472	ENST00000333891;ENST00000423517	T;T	0.15372	2.43;2.44	4.64	-0.0778	0.13717	.	.	.	.	.	T	0.04679	0.0127	N	0.00538	-1.39	0.22066	N	0.999381	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37009	-0.9724	9	0.87932	D	0	.	7.1447	0.25577	0.2775:0.116:0.6065:0.0	.	496;496	Q9Y6V0-5;Q9Y6V0-6	.;.	P	496	ENSP00000334319:S496P;ENSP00000388393:S496P	ENSP00000334319:S496P	S	-	1	0	PCLO	82622407	0.659000	0.27411	0.005000	0.12908	0.207000	0.24258	2.928000	0.48908	0.094000	0.17404	-0.379000	0.06801	TCA		0.607	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		10	157	0	0	0	0	10	157				
MFHAS1	9258	broad.mit.edu	37	8	8750418	8750418	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr8:8750418G>A	ENST00000276282.6	-	1	737	c.151C>T	c.(151-153)Ccc>Tcc	p.P51S	RNU6-682P_ENST00000363843.1_RNA	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	51										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GGGGAGGCGGGGGACTCGAGC	0.746																																					Melanoma(103;1201 2045 17515 28966)	uc003wsj.1		NA																	0					0						c.(151-153)CCC>TCC		malignant fibrous histiocytoma amplified							6.0	8.0	7.0					8																	8750418		2109	4170	6279	SO:0001583	missense	9258							g.chr8:8750418G>A	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.151C>T	8.37:g.8750418G>A	ENSP00000276282:p.Pro51Ser						p.P51S	NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	714	-		Hepatocellular(245;0.217)	51					Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	37	c.151C>T	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768015	0.49680	.	.	ENSG00000147324	ENST00000276282	T	0.33654	1.4	4.54	4.54	0.55810	.	0.199062	0.25078	N	0.033319	T	0.17365	0.0417	N	0.08118	0	0.33437	D	0.5819	B	0.25048	0.117	B	0.22753	0.041	T	0.15206	-1.0445	10	0.07813	T	0.8	.	12.7732	0.57434	0.0:0.0:1.0:0.0	.	51	Q9Y4C4	MFHA1_HUMAN	S	51	ENSP00000276282:P51S	ENSP00000276282:P51S	P	-	1	0	MFHAS1	8787828	0.081000	0.21417	0.995000	0.50966	0.249000	0.25844	0.785000	0.26830	2.051000	0.60960	0.563000	0.77884	CCC		0.746	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		3	6	0	0	0	0	3	6				
CSPP1	79848	broad.mit.edu	37	8	68102908	68102908	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr8:68102908G>A	ENST00000262210.5	+	27	3260	c.3229G>A	c.(3229-3231)Gcc>Acc	p.A1077T	CSPP1_ENST00000412460.1_Missense_Mutation_p.A732T|CSPP1_ENST00000521168.1_3'UTR|ARFGEF1_ENST00000520381.1_Intron	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1112					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GACATATCCTGCCATTGAAGA	0.483																																						uc003xxi.2		NA																	0				ovary(3)|breast(2)	5						c.(3334-3336)GCC>ACC		centrosome spindle pole associated protein 1							116.0	112.0	113.0					8																	68102908		1945	4134	6079	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68102908G>A	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.3229G>A	8.37:g.68102908G>A	ENSP00000262210:p.Ala1077Thr					ARFGEF1_uc003xxl.1_Intron|CSPP1_uc003xxj.2_Missense_Mutation_p.A1077T|CSPP1_uc003xxk.2_Missense_Mutation_p.A732T|CSPP1_uc010lyw.2_Missense_Mutation_p.A172T	p.A1112T	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		29	3365	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1112					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.3334G>A	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791938	0.50102	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.32753	1.44;1.46;1.46	4.42	3.53	0.40419	.	0.469288	0.22968	N	0.053472	T	0.37100	0.0991	L	0.43152	1.355	0.80722	D	1	P;P;D;P	0.59767	0.634;0.589;0.986;0.557	B;B;P;B	0.58721	0.23;0.058;0.844;0.23	T	0.12993	-1.0526	10	0.54805	T	0.06	-0.8079	6.6948	0.23193	0.096:0.1788:0.7251:0.0	.	235;732;1077;1112	Q9H688;Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;.;CSPP1_HUMAN	T	1077;1112;732;732	ENSP00000262210:A1077T;ENSP00000415782:A732T;ENSP00000430092:A732T	ENSP00000262210:A1077T	A	+	1	0	CSPP1	68265462	0.985000	0.35326	0.998000	0.56505	0.911000	0.54048	1.203000	0.32284	1.428000	0.47296	0.650000	0.86243	GCC		0.483	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		38	81	0	0	0	0	38	81				
TERF1	7013	broad.mit.edu	37	8	73926133	73926133	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr8:73926133T>G	ENST00000276603.5	+	2	346	c.323T>G	c.(322-324)aTt>aGt	p.I108S	TERF1_ENST00000276602.6_Missense_Mutation_p.I108S	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	108	TRFH dimerization.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			TTTTTAGCTATTATTCATGGA	0.323																																						uc003xzd.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(322-324)ATT>AGT		telomeric repeat binding factor 1 isoform 1							40.0	43.0	42.0					8																	73926133		2193	4293	6486	SO:0001583	missense	7013				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding	g.chr8:73926133T>G	U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.323T>G	8.37:g.73926133T>G	ENSP00000276603:p.Ile108Ser					TERF1_uc003xzc.2_RNA|TERF1_uc003xze.2_Missense_Mutation_p.I108S	p.I108S	NM_017489	NP_059523	P54274	TERF1_HUMAN	Epithelial(68;0.0984)		2	348	+	Breast(64;0.218)		108			TRFH dimerization.		A7XP29|Q15553|Q8NHT6|Q93029	Missense_Mutation	SNP	ENST00000276603.5	37	c.323T>G	CCDS6211.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.946739	0.73672	.	.	ENSG00000147601	ENST00000276603;ENST00000276602;ENST00000517390;ENST00000538958	.	.	.	5.06	5.06	0.68205	Telomere repeat-binding factor, dimerisation domain (4);	0.182039	0.46145	D	0.000319	T	0.66858	0.2832	L	0.60455	1.87	0.53005	D	0.999968	D;D	0.67145	0.996;0.993	P;P	0.57620	0.803;0.824	T	0.70619	-0.4822	9	0.72032	D	0.01	.	12.6278	0.56640	0.0:0.0:0.0:1.0	.	108;108	P54274-2;P54274	.;TERF1_HUMAN	S	108;108;4;4	.	ENSP00000276602:I108S	I	+	2	0	TERF1	74088687	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	4.906000	0.63293	2.043000	0.60533	0.254000	0.18369	ATT		0.323	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379093.1	NM_017489		39	94	0	0	0	0	39	94				
ZFHX4	79776	broad.mit.edu	37	8	77617964	77617964	+	Silent	SNP	T	T	C	rs74886598		TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr8:77617964T>C	ENST00000521891.2	+	2	2089	c.1641T>C	c.(1639-1641)agT>agC	p.S547S	ZFHX4_ENST00000518282.1_Silent_p.S547S|ZFHX4_ENST00000050961.6_Silent_p.S547S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Silent_p.S547S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	547					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCAGTGGCAGTGTTGCTAGTA	0.488										HNSCC(33;0.089)																												uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(1639-1641)AGT>AGC		zinc finger homeodomain 4							42.0	44.0	43.0					8																	77617964		2057	4217	6274	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617964T>C		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1641T>C	8.37:g.77617964T>C		HNSCC(33;0.089)				ZFHX4_uc003yat.1_Silent_p.S547S|ZFHX4_uc003yau.1_Silent_p.S547S|ZFHX4_uc003yaw.1_Silent_p.S547S	p.S547S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2028	+			547					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.1641T>C	CCDS47878.2																																																																																				0.488	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		6	31	0	0	0	0	6	31				
RUNX1T1	862	broad.mit.edu	37	8	92972691	92972691	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr8:92972691C>A	ENST00000523629.1	-	12	2048	c.1594G>T	c.(1594-1596)Gcc>Tcc	p.A532S	RUNX1T1_ENST00000396218.1_Missense_Mutation_p.A505S|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.A505S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.A532S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.A543S|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.A495S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.A495S|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.A495S	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	532					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CAGTATCGGGCTGTGTTACAG	0.522																																						uc003yfd.2		NA																	0				lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(1594-1596)GCC>TCC		acute myelogenous leukemia 1 translocation 1							73.0	68.0	69.0					8																	92972691		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92972691C>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1594G>T	8.37:g.92972691C>A	ENSP00000428543:p.Ala532Ser					RUNX1T1_uc003yfc.1_Missense_Mutation_p.A505S|RUNX1T1_uc003yfe.1_Missense_Mutation_p.A495S|RUNX1T1_uc010mao.2_Missense_Mutation_p.A505S|RUNX1T1_uc011lgi.1_Missense_Mutation_p.A543S|uc010mam.2_5'Flank|RUNX1T1_uc010man.1_Missense_Mutation_p.A157S|RUNX1T1_uc003yfb.1_Missense_Mutation_p.A495S	p.A532S	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		11	1678	-			532			MYND-type.		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1594G>T	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962536	0.92791	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.39056	1.11;1.1;1.11;1.11;1.11;1.11;1.1;1.1	5.86	5.86	0.93980	Zinc finger, MYND-type (3);	0.000000	0.85682	D	0.000000	T	0.68613	0.3020	M	0.78916	2.43	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.999;1.0;1.0;0.995	T	0.70392	-0.4884	10	0.87932	D	0	-17.7479	20.1802	0.98196	0.0:1.0:0.0:0.0	.	543;495;532;505	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	S	532;505;532;495;495;495;543;505	ENSP00000428543:A532S;ENSP00000379520:A505S;ENSP00000265814:A532S;ENSP00000353504:A495S;ENSP00000390137:A495S;ENSP00000428742:A495S;ENSP00000402257:A543S;ENSP00000430728:A505S	ENSP00000265814:A532S	A	-	1	0	RUNX1T1	93041867	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.818000	0.86416	2.777000	0.95525	0.655000	0.94253	GCC		0.522	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		16	49	1	0	0.000422831	0.000441541	16	49				
CSMD3	114788	broad.mit.edu	37	8	113697694	113697694	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr8:113697694C>T	ENST00000297405.5	-	15	2667	c.2423G>A	c.(2422-2424)cGa>cAa	p.R808Q	CSMD3_ENST00000455883.2_Missense_Mutation_p.R704Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.R808Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R768Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	808	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAATTCCAATCGCAGTATGTG	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(2422-2424)CGA>CAA		CUB and Sushi multiple domains 3 isoform 1							84.0	82.0	83.0					8																	113697694		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113697694C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2423G>A	8.37:g.113697694C>T	ENSP00000297405:p.Arg808Gln	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.R80Q|CSMD3_uc003ynt.2_Missense_Mutation_p.R768Q|CSMD3_uc011lhx.1_Missense_Mutation_p.R704Q	p.R808Q	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			15	2582	-			808			Extracellular (Potential).|CUB 4.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2423G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053390	0.55218	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21	5.96	5.96	0.96718	CUB (5);	0.192551	0.34386	N	0.004014	T	0.71005	0.3289	L	0.43757	1.38	0.37770	D	0.926651	B;B;D	0.89917	0.034;0.206;1.0	B;B;D	0.91635	0.006;0.079;0.999	T	0.67098	-0.5756	10	0.30854	T	0.27	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	704;808;768	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Q	768;808;148;704;808	ENSP00000345799:R768Q;ENSP00000297405:R808Q;ENSP00000341558:R148Q;ENSP00000412263:R704Q;ENSP00000343124:R808Q	ENSP00000297405:R808Q	R	-	2	0	CSMD3	113766870	0.997000	0.39634	0.342000	0.25602	0.807000	0.45602	4.030000	0.57260	2.826000	0.97356	0.655000	0.94253	CGA		0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		36	97	0	0	0	0	36	97				
TRPM6	140803	broad.mit.edu	37	9	77397710	77397710	+	Silent	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr9:77397710C>T	ENST00000360774.1	-	22	3216	c.2979G>A	c.(2977-2979)gtG>gtA	p.V993V	TRPM6_ENST00000451710.3_Silent_p.V993V|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Silent_p.V988V|TRPM6_ENST00000376864.4_Silent_p.V993V|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Silent_p.V988V	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	993					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CCTTGCGTGCCACTCCAAAGC	0.438																																						uc004ajl.1		NA																	0				lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(2977-2979)GTG>GTA		transient receptor potential cation channel,							120.0	102.0	108.0					9																	77397710		2203	4300	6503	SO:0001819	synonymous_variant	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77397710C>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.2979G>A	9.37:g.77397710C>T						TRPM6_uc004ajk.1_Silent_p.V988V|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Silent_p.V279V	p.V993V	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			22	3217	-			993			Helical; (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	c.2979G>A	CCDS6647.1																																																																																				0.438	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		33	33	0	0	0	0	33	33				
OR13C9	286362	broad.mit.edu	37	9	107380278	107380278	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr9:107380278C>A	ENST00000259362.1	-	1	207	c.208G>T	c.(208-210)Gac>Tac	p.D70Y		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TAGCAGATGTCCAAGAAGGAG	0.478																																						uc011lvr.1		NA																	0					0						c.(208-210)GAC>TAC		olfactory receptor, family 13, subfamily C,							105.0	106.0	105.0					9																	107380278		2203	4300	6503	SO:0001583	missense	286362				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107380278C>A		CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"""GPCR / Class A : Olfactory receptors"""	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.208G>T	9.37:g.107380278C>A	ENSP00000259362:p.Asp70Tyr						p.D70Y	NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN			1	208	-			70			Helical; Name=2; (Potential).		Q6IFL2	Missense_Mutation	SNP	ENST00000259362.1	37	c.208G>T	CCDS35093.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.401846	0.62288	.	.	ENSG00000136839	ENST00000259362	T	0.01185	5.21	4.88	4.88	0.63580	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000077	T	0.11067	0.0270	H	0.97918	4.105	0.30601	N	0.760525	D	0.67145	0.996	P	0.58172	0.834	T	0.25572	-1.0128	10	0.87932	D	0	.	15.5781	0.76408	0.0:1.0:0.0:0.0	.	70	Q8NGT0	O13C9_HUMAN	Y	70	ENSP00000259362:D70Y	ENSP00000259362:D70Y	D	-	1	0	OR13C9	106420099	0.969000	0.33509	1.000000	0.80357	0.996000	0.88848	3.545000	0.53648	2.528000	0.85240	0.637000	0.83480	GAC		0.478	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053490.1			48	124	1	0	4.45e-29	5.03e-29	48	124				
TNC	3371	broad.mit.edu	37	9	117848842	117848842	+	Missense_Mutation	SNP	C	C	T	rs536685730	byFrequency	TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr9:117848842C>T	ENST00000350763.4	-	3	1579	c.1168G>A	c.(1168-1170)Ggg>Agg	p.G390R	TNC_ENST00000340094.3_Missense_Mutation_p.G390R|TNC_ENST00000535648.1_Missense_Mutation_p.G390R|TNC_ENST00000537320.1_Missense_Mutation_p.G390R|TNC_ENST00000345230.3_Missense_Mutation_p.G390R|TNC_ENST00000423613.2_Missense_Mutation_p.G390R|TNC_ENST00000542877.1_Missense_Mutation_p.G390R|TNC_ENST00000341037.4_Missense_Mutation_p.G390R|TNC_ENST00000346706.3_Missense_Mutation_p.G390R	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	390	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCACACCGCCCGTCTACACAG	0.587													C|||	2	0.000399361	0.0008	0.0	5008	,	,		21913	0.0		0.0	False		,,,				2504	0.001					uc004bjj.3		NA																	0				central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(1168-1170)GGG>AGG		tenascin C precursor							129.0	111.0	117.0					9																	117848842		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117848842C>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1168G>A	9.37:g.117848842C>T	ENSP00000265131:p.Gly390Arg					TNC_uc010mvf.2_Missense_Mutation_p.G390R	p.G390R	NM_002160	NP_002151	P24821	TENA_HUMAN			3	1530	-			390			EGF-like 8.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.1168G>A	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004890	0.54254	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5	5.44	5.44	0.79542	EGF, extracellular (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.45716	0.1356	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.50964	-0.8765	10	0.87932	D	0	.	18.6123	0.91290	0.0:1.0:0.0:0.0	.	390;390	E9PC84;P24821	.;TENA_HUMAN	R	390	ENSP00000344400:G390R;ENSP00000438152:G390R;ENSP00000344555:G390R;ENSP00000345861:G390R;ENSP00000265131:G390R;ENSP00000339553:G390R;ENSP00000411406:G390R;ENSP00000443478:G390R;ENSP00000442242:G390R	ENSP00000344400:G390R	G	-	1	0	TNC	116888663	1.000000	0.71417	0.155000	0.22561	0.004000	0.04260	7.745000	0.85046	2.712000	0.92718	0.563000	0.77884	GGG		0.587	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		33	104	0	0	0	0	33	104				
GAPVD1	26130	broad.mit.edu	37	9	128112629	128112629	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr9:128112629C>T	ENST00000495955.1	+	22	3699	c.3409C>T	c.(3409-3411)Cca>Tca	p.P1137S	GAPVD1_ENST00000394105.2_Missense_Mutation_p.P1146S|GAPVD1_ENST00000265956.4_Missense_Mutation_p.P1111S|GAPVD1_ENST00000312123.9_Missense_Mutation_p.P1098S|GAPVD1_ENST00000394104.2_Missense_Mutation_p.P1137S|GAPVD1_ENST00000394083.2_Missense_Mutation_p.P1071S|GAPVD1_ENST00000297933.6_Missense_Mutation_p.P1119S|GAPVD1_ENST00000470056.1_Missense_Mutation_p.P1092S			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1137					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGTTGCCTTCCCAGTGCTGAC	0.403																																						uc010mwx.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(3409-3411)CCA>TCA		GTPase activating protein and VPS9 domains 1							109.0	112.0	111.0					9																	128112629		2203	4300	6503	SO:0001583	missense	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128112629C>T		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.3409C>T	9.37:g.128112629C>T	ENSP00000419063:p.Pro1137Ser					GAPVD1_uc004bpp.2_Missense_Mutation_p.P1146S|GAPVD1_uc004bpq.2_Missense_Mutation_p.P1119S|GAPVD1_uc004bpr.2_Missense_Mutation_p.P1098S|GAPVD1_uc004bps.2_Missense_Mutation_p.P1092S|GAPVD1_uc004bpt.2_Missense_Mutation_p.P152S	p.P1137S	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN			22	3735	+			1137					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37	c.3409C>T		.	.	.	.	.	.	.	.	.	.	C	23.5	4.419891	0.83559	.	.	ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000297933;ENST00000312123	T	0.12774	2.65	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.24160	0.0585	L	0.32530	0.975	0.80722	D	1	P;P;P;P;P;P	0.47191	0.826;0.473;0.789;0.789;0.789;0.891	P;B;P;P;P;P	0.54026	0.553;0.091;0.546;0.546;0.546;0.74	T	0.00086	-1.2096	10	0.62326	D	0.03	.	19.3473	0.94370	0.0:1.0:0.0:0.0	.	1137;152;1092;1098;1119;1146	Q14C86;B3KTX2;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	GAPD1_HUMAN;.;.;.;.;.	S	1092;1146;1137;1111;1071;1137;1119;1098	ENSP00000265956:P1111S	ENSP00000265956:P1111S	P	+	1	0	GAPVD1	127152450	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.654000	0.61469	2.816000	0.96949	0.561000	0.74099	CCA		0.403	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			99	87	0	0	0	0	99	87				
ST6GALNAC6	30815	broad.mit.edu	37	9	130652958	130652958	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr9:130652958C>T	ENST00000373146.1	-	5	841	c.662G>A	c.(661-663)cGg>cAg	p.R221Q	ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.R221Q|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.R187Q|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.R187Q|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.R221Q			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	221					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTCAAATTGCCGCATGCGGCC	0.642																																						uc004bso.1		NA																	0					0						c.(661-663)CGG>CAG		sialytransferase 7F							39.0	40.0	40.0					9																	130652958		2203	4296	6499	SO:0001583	missense	30815				protein glycosylation	integral to Golgi membrane|plasma membrane		g.chr9:130652958C>T	BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"""Sialyltransferases"""	23364	protein-coding gene	gene with protein product		610135	"""sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"""	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.662G>A	9.37:g.130652958C>T	ENSP00000362239:p.Arg221Gln					ST6GALNAC6_uc004bsn.1_Missense_Mutation_p.R187Q|ST6GALNAC6_uc011man.1_Intron|ST6GALNAC6_uc004bsp.1_Missense_Mutation_p.R221Q|ST6GALNAC6_uc004bsq.1_Missense_Mutation_p.R187Q|ST6GALNAC6_uc004bsr.2_Missense_Mutation_p.R187Q|ST6GALNAC6_uc010mxp.1_RNA	p.R221Q	NM_013443	NP_038471	Q969X2	SIA7F_HUMAN			5	781	-			221			Lumenal (Potential).		B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Missense_Mutation	SNP	ENST00000373146.1	37	c.662G>A	CCDS6882.1	.	.	.	.	.	.	.	.	.	.	C	4.540	0.100336	0.08731	.	.	ENSG00000160408	ENST00000373146;ENST00000373141;ENST00000373142;ENST00000373144;ENST00000291839;ENST00000447681	T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42	5.81	-3.39	0.04868	.	1.163980	0.05740	N	0.601218	T	0.22166	0.0534	L	0.28649	0.875	0.28997	N	0.887688	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.38650	-0.9651	10	0.13108	T	0.6	-0.223	14.3766	0.66881	0.0:0.5516:0.0:0.4484	.	187;221	Q969X2-2;Q969X2	.;SIA7F_HUMAN	Q	221;187;221;187;221;187	ENSP00000362239:R221Q;ENSP00000362234:R187Q;ENSP00000362235:R221Q;ENSP00000362237:R187Q;ENSP00000291839:R221Q;ENSP00000405326:R187Q	ENSP00000291839:R221Q	R	-	2	0	ST6GALNAC6	129692779	0.130000	0.22417	0.274000	0.24659	0.212000	0.24457	0.134000	0.15932	-0.976000	0.03542	-1.945000	0.00491	CGG		0.642	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054278.1	NM_013443		69	54	0	0	0	0	69	54				
SEC16A	9919	broad.mit.edu	37	9	139339534	139339534	+	Silent	SNP	T	T	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr9:139339534T>C	ENST00000313084.5	-	8	1243	c.981A>G	c.(979-981)ttA>ttG	p.L327L	SEC16A_ENST00000431893.2_Silent_p.L2096L|SEC16A_ENST00000371706.3_Intron|SEC16A_ENST00000467838.1_5'Flank|SEC16A_ENST00000290037.6_Intron|SEC16A_ENST00000313050.7_Silent_p.L2299L			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2121					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTTCACGTGATAATGAACTCA	0.498																																						uc004chx.2		NA																	0					0						c.(6895-6897)TTA>TTG		SEC16 homolog A							84.0	79.0	81.0					9																	139339534		2043	4201	6244	SO:0001819	synonymous_variant	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139339534T>C	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000313084.5:c.981A>G	9.37:g.139339534T>C						SEC16A_uc004chp.2_Intron|SEC16A_uc004chq.2_Intron|SEC16A_uc011mea.1_Intron|SEC16A_uc004chr.2_Silent_p.L327L|SEC16A_uc004chs.2_Silent_p.L139L|SEC16A_uc004cht.2_Silent_p.L349L|SEC16A_uc004chu.2_Silent_p.L506L|SEC16A_uc004chv.3_Intron|SEC16A_uc004chw.2_Silent_p.L2274L|SEC16A_uc010nbn.2_Intron	p.L2299L	NM_014866	NP_055681	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	30	7206	-		Myeloproliferative disorder(178;0.0511)	2121			Required for interaction with SEC23A.		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000313084.5	37	c.6897A>G		.	.	.	.	.	.	.	.	.	.	T	7.687	0.690249	0.15039	.	.	ENSG00000148396	ENST00000433860	.	.	.	4.91	-3.4	0.04853	.	.	.	.	.	T	0.49355	0.1552	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42189	-0.9466	4	.	.	.	-12.7782	6.1617	0.20368	0.0:0.362:0.1704:0.4676	.	.	.	.	V	448	.	.	I	-	1	0	SEC16A	138459355	1.000000	0.71417	0.001000	0.08648	0.740000	0.42216	1.599000	0.36751	-0.913000	0.03832	0.454000	0.30748	ATC		0.498	SEC16A-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055078.1	XM_088459		7	9	0	0	0	0	7	9				
MAN1B1	11253	broad.mit.edu	37	9	139990685	139990687	+	Splice_Site	TNP	ACA	ACA	TAC			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr9:139990685_139990687ACA>TAC	ENST00000371589.4	+	4	538		c.e4-1		MAN1B1_ENST00000474902.1_Splice_Site|SNORD62_ENST00000362541.1_RNA	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1						cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		CAATTTCTCTACAGAAGACACAA	0.567																																						uc004cld.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.e4-2		alpha 1,2-mannosidase																																				SO:0001630	splice_region_variant	11253				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr9:139990685_139990687ACA>TAC	AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"""endoplasmic reticulum alpha-mannosidase 1"", ""alpha 1,2-mannosidase"", ""endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1"", ""ER alpha 1,2-mannosidase"", ""Man9GlcNAc2-specific processing alpha-mannosidase"""	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.466-1ACA>TAC	9.37:g.139990685ACA>TAC						MAN1B1_uc004clc.2_Splice_Site_p.K57_splice|MAN1B1_uc011meo.1_Splice_Site_p.K57_splice|MAN1B1_uc011mep.1_Splice_Site_p.K156_splice|MAN1B1_uc010ncc.2_Splice_Site	p.K156_splice	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)	4	501	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)						Q5VSG3|Q9BRS9|Q9Y5K7	Splice_Site	TNP	ENST00000371589.4	37	c.466_splice	CCDS7029.1																																																																																				0.567	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2	NM_016219	Intron	9	23	0	0	0	0	9	23				
MRPL41	64975	broad.mit.edu	37	9	140446898	140446898	+	Missense_Mutation	SNP	C	C	A	rs3210506		TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr9:140446898C>A	ENST00000371443.5	+	2	1153	c.365C>A	c.(364-366)aCa>aAa	p.T122K	PNPLA7_ENST00000277531.4_5'Flank|PNPLA7_ENST00000406427.1_5'Flank|DPH7_ENST00000479650.1_5'Flank	NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	122					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		TTCGAGCCCACACAGGAGGGA	0.592																																						uc004cnh.3		NA																	0					0						c.(364-366)ACA>AAA		mitochondrial ribosomal protein L41							30.0	27.0	28.0					9																	140446898		2199	4288	6487	SO:0001583	missense	64975				apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr9:140446898C>A	AB051625	CCDS7046.1	9q34.3	2012-09-13			ENSG00000182154	ENSG00000182154		"""Mitochondrial ribosomal proteins / large subunits"""	14492	protein-coding gene	gene with protein product		611846				11543634	Standard	NM_032477		Approved	MRP-L27, RPML27, BMRP, PIG3, MRPL27	uc004cnh.4	Q8IXM3	OTTHUMG00000020987	ENST00000371443.5:c.365C>A	9.37:g.140446898C>A	ENSP00000360498:p.Thr122Lys					PNPLA7_uc010ncj.1_5'Flank|PNPLA7_uc004cnf.2_5'Flank	p.T122K	NM_032477	NP_115866	Q8IXM3	RM41_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)	2	495	+	all_cancers(76;0.106)		122					Q96Q49	Missense_Mutation	SNP	ENST00000371443.5	37	c.365C>A	CCDS7046.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556263	0.86231	.	.	ENSG00000182154	ENST00000371443	.	.	.	4.82	4.82	0.62117	.	0.113727	0.64402	D	0.000017	T	0.70780	0.3263	M	0.80028	2.48	0.52099	D	0.999944	B	0.28419	0.211	B	0.30029	0.11	T	0.74019	-0.3799	9	0.66056	D	0.02	.	17.0619	0.86549	0.0:1.0:0.0:0.0	.	122	Q8IXM3	RM41_HUMAN	K	122	.	ENSP00000360498:T122K	T	+	2	0	MRPL41	139566719	0.986000	0.35501	0.853000	0.33588	0.693000	0.40251	5.388000	0.66249	2.509000	0.84616	0.561000	0.74099	ACA		0.592	MRPL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055327.1	NM_032477		4	76	1	0	0.00024832	0.000259883	4	76				
DPH7	92715	broad.mit.edu	37	9	140473185	140473185	+	Silent	SNP	G	G	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr9:140473185G>A	ENST00000277540.2	-	1	202	c.45C>T	c.(43-45)acC>acT	p.T15T	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1	Q9BTV6	DPH7_HUMAN	diphthamide biosynthesis 7	15					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)												CCGAGTCCGCGGTCAGCTCGG	0.746																																						uc004cnk.1		NA																	0					0						c.(43-45)ACC>ACT		WD repeat domain 85							11.0	9.0	10.0					9																	140473185		2135	4221	6356	SO:0001819	synonymous_variant	92715				peptidyl-diphthamide biosynthetic process from peptidyl-histidine			g.chr9:140473185G>A	AK075115	CCDS7047.1	9q34.3	2013-06-20	2013-06-20	2013-06-20	ENSG00000148399	ENSG00000148399		"""WD repeat domain containing"""	25199	protein-coding gene	gene with protein product		613210	"""chromosome 9 open reading frame 112"", ""WD repeat domain 85"""	C9orf112, WDR85		23486472	Standard	NM_138778		Approved	FLJ90634, RRT2	uc004cnk.1	Q9BTV6	OTTHUMG00000020991	ENST00000277540.2:c.45C>T	9.37:g.140473185G>A						WDR85_uc004cnl.1_5'UTR|WDR85_uc004cnm.1_5'UTR|WDR85_uc004cnn.1_5'UTR	p.T15T	NM_138778	NP_620133	Q9BTV6	WDR85_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509)	1	203	-	all_cancers(76;0.106)		15					Q96AB7	Silent	SNP	ENST00000277540.2	37	c.45C>T	CCDS7047.1																																																																																				0.746	DPH7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055350.1	NM_138778		7	2	0	0	0	0	7	2				
FAM47A	158724	broad.mit.edu	37	X	34149589	34149589	+	Silent	SNP	A	A	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chrX:34149589A>C	ENST00000346193.3	-	1	858	c.807T>G	c.(805-807)tcT>tcG	p.S269S		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	269										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GCTTCCTCTCAGAATCCAGTT	0.587																																						uc004ddg.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(805-807)TCT>TCG		hypothetical protein LOC158724							30.0	32.0	31.0					X																	34149589		2199	4299	6498	SO:0001819	synonymous_variant	158724							g.chrX:34149589A>C	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.807T>G	X.37:g.34149589A>C							p.S269S	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	840	-			269					A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	c.807T>G	CCDS43926.1																																																																																				0.587	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		22	26	0	0	0	0	22	26				
SRPX	8406	broad.mit.edu	37	X	38024064	38024064	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chrX:38024064T>A	ENST00000378533.3	-	5	717	c.611A>T	c.(610-612)gAg>gTg	p.E204V	SRPX_ENST00000538295.1_Missense_Mutation_p.E204V|SRPX_ENST00000432886.2_Missense_Mutation_p.E145V|SRPX_ENST00000343800.6_Missense_Mutation_p.E191V|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_Missense_Mutation_p.E184V	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	204	HYR. {ECO:0000255|PROSITE- ProRule:PRU00113}.				autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						TTCGGGTGTCTCCCAGGACAC	0.433																																						uc004ddy.1		NA																	0					0						c.(610-612)GAG>GTG		sushi-repeat-containing protein, X-linked							129.0	108.0	115.0					X																	38024064		2202	4300	6502	SO:0001583	missense	8406				cell adhesion	cell surface|membrane		g.chrX:38024064T>A	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.611A>T	X.37:g.38024064T>A	ENSP00000367794:p.Glu204Val					SRPX_uc004ddz.1_Missense_Mutation_p.E184V|SRPX_uc011mkh.1_Missense_Mutation_p.E145V|SRPX_uc011mki.1_Missense_Mutation_p.E204V	p.E204V	NM_006307	NP_006298	P78539	SRPX_HUMAN			5	697	-			204			HYR.		A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Missense_Mutation	SNP	ENST00000378533.3	37	c.611A>T	CCDS14245.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.487778	0.84854	.	.	ENSG00000101955	ENST00000544439;ENST00000432886;ENST00000538295;ENST00000378533;ENST00000343800	T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78	5.79	5.79	0.91817	Hyalin (2);	0.189636	0.56097	D	0.000027	T	0.35189	0.0923	L	0.38175	1.15	0.58432	D	0.999998	P;D;P;P	0.54601	0.713;0.967;0.874;0.896	P;P;P;P	0.56823	0.513;0.807;0.447;0.583	T	0.03193	-1.1062	10	0.30854	T	0.27	-6.1714	15.0582	0.71930	0.0:0.0:0.0:1.0	.	204;145;184;204	F5H4D7;B4DQH5;G3V1L0;P78539	.;.;.;SRPX_HUMAN	V	184;145;204;204;191	ENSP00000440758:E184V;ENSP00000411165:E145V;ENSP00000445034:E204V;ENSP00000367794:E204V;ENSP00000339211:E191V	ENSP00000339211:E191V	E	-	2	0	SRPX	37909008	1.000000	0.71417	0.996000	0.52242	0.797000	0.45037	7.671000	0.83941	1.938000	0.56188	0.412000	0.27726	GAG		0.433	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		5	34	0	0	0	0	5	34				
MUM1L1	139221	broad.mit.edu	37	X	105450134	105450134	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chrX:105450134G>T	ENST00000357175.2	+	4	1358	c.709G>T	c.(709-711)Gct>Tct	p.A237S	MUM1L1_ENST00000372552.1_Missense_Mutation_p.A237S|MUM1L1_ENST00000337685.2_Missense_Mutation_p.A237S	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	237						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGAAAAGTTTGCTCCACCTTT	0.418																																						uc004emf.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(709-711)GCT>TCT		melanoma associated antigen (mutated) 1-like 1							92.0	80.0	84.0					X																	105450134		1936	4127	6063	SO:0001583	missense	139221							g.chrX:105450134G>T	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.709G>T	X.37:g.105450134G>T	ENSP00000349699:p.Ala237Ser					MUM1L1_uc004emg.1_Missense_Mutation_p.A237S	p.A237S	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN			4	1358	+			237					D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	ENST00000357175.2	37	c.709G>T	CCDS55469.1	.	.	.	.	.	.	.	.	.	.	G	4.323	0.059277	0.08339	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.23348	1.91;1.91;1.91	5.45	-10.9	0.00192	.	2.736490	0.01738	N	0.029251	T	0.08268	0.0206	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17379	-1.0371	10	0.08837	T	0.75	-23.9437	3.095	0.06307	0.2226:0.4375:0.1279:0.212	.	237	Q5H9M0	MUML1_HUMAN	S	237	ENSP00000349699:A237S;ENSP00000338641:A237S;ENSP00000361632:A237S	ENSP00000338641:A237S	A	+	1	0	MUM1L1	105336790	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.724000	0.04947	-2.361000	0.00609	-0.191000	0.12829	GCT		0.418	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423		15	10	1	0	2.23e-06	2.38e-06	15	10				
TENM1	10178	broad.mit.edu	37	X	123699280	123699280	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chrX:123699280G>T	ENST00000371130.3	-	12	2271	c.2208C>A	c.(2206-2208)tgC>tgA	p.C736*	TENM1_ENST00000422452.2_Nonsense_Mutation_p.C736*	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	736	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TTCCATCTTTGCATTGGCCAT	0.468																																						uc004euj.2		NA																	0				ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(2206-2208)TGC>TGA		odz, odd Oz/ten-m homolog 1 isoform 3							183.0	127.0	146.0					X																	123699280		2203	4300	6503	SO:0001587	stop_gained	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123699280G>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2208C>A	X.37:g.123699280G>T	ENSP00000360171:p.Cys736*					ODZ1_uc011muj.1_Nonsense_Mutation_p.C735*|ODZ1_uc010nqy.2_Nonsense_Mutation_p.C736*	p.C736*	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			12	2272	-			736			EGF-like 7.|Extracellular (Potential).		B2RTR5|Q5JZ17	Nonsense_Mutation	SNP	ENST00000371130.3	37	c.2208C>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	39	7.635346	0.98403	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	.	.	.	5.75	2.93	0.34026	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3042	0.32032	0.3251:0.0:0.6749:0.0	.	.	.	.	X	736	.	ENSP00000360171:C736X	C	-	3	2	ODZ1	123526961	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.474000	0.45154	0.628000	0.30357	0.600000	0.82982	TGC		0.468	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		4	56	1	0	0.00909568	0.00931271	4	56				
FAF1	11124	broad.mit.edu	37	1	51050366	51050367	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:51050366_51050367insT	ENST00000396153.2	-	10	1408_1409	c.957_958insA	c.(955-960)aaatctfs	p.S320fs	FAF1_ENST00000545823.1_Frame_Shift_Ins_p.S78fs|FAF1_ENST00000371778.4_Frame_Shift_Ins_p.S320fs|RNU6-1026P_ENST00000384465.1_RNA|FAF1_ENST00000472808.1_5'UTR	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	320					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CTCATTGGAGATTTTCTCAAGG	0.376																																						uc009vyx.1		NA																	1	Whole gene deletion(1)		thyroid(1)	ovary(1)|pancreas(1)	2						c.(955-960)AAATCTfs		FAS-associated factor 1																																				SO:0001589	frameshift_variant	11124				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	g.chr1:51050366_51050367insT	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.958dupA	1.37:g.51050370_51050370dupT	ENSP00000379457:p.Ser320fs					FAF1_uc009vyw.1_Intron|FAF1_uc001cse.1_Frame_Shift_Ins_p.K319fs|FAF1_uc010onc.1_Frame_Shift_Ins_p.K77fs	p.K319fs	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN		GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)	11	1020_1021	-			319_320					Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Frame_Shift_Ins	INS	ENST00000396153.2	37	c.957_958insA	CCDS554.1																																																																																				0.376	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	NM_007051		45	143	NA	NA	NA	NA	45	143	---	---	---	---
PPAP2B	8613	broad.mit.edu	37	1	56990179	56990179	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr1:56990179delC	ENST00000371250.3	-	3	896	c.345delG	c.(343-345)cggfs	p.R115fs		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	115					Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GAATCGTCGACCGCGACTTCT	0.483																																						uc001cyj.1		NA																	0					0						c.(343-345)CGGfs		phosphatidic acid phosphatase type 2B							80.0	83.0	82.0					1																	56990179		2203	4300	6503	SO:0001589	frameshift_variant	8613				canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity	g.chr1:56990179delC	AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.345delG	1.37:g.56990179delC	ENSP00000360296:p.Arg115fs						p.R115fs	NM_177414	NP_803133	O14495	LPP3_HUMAN			4	846	-			115			Cytoplasmic (Potential).		B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	Frame_Shift_Del	DEL	ENST00000371250.3	37	c.345delG	CCDS604.1																																																																																				0.483	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022334.2	NM_003713		30	100	NA	NA	NA	NA	30	100	---	---	---	---
OR5P2	120065	broad.mit.edu	37	11	7817968	7817969	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr11:7817968_7817969insA	ENST00000329434.2	-	1	551_552	c.521_522insT	c.(520-522)ttcfs	p.F174fs	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGAAATCACAGAAAAAATGATT	0.386																																						uc001mfp.1		NA																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(520-522)TTCfs		olfactory receptor, family 5, subfamily P,																																				SO:0001589	frameshift_variant	120065				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7817968_7817969insA	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.522dupT	11.37:g.7817974_7817974dupA	ENSP00000331823:p.Phe174fs						p.F174fs	NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	521_522	-			174			Extracellular (Potential).		Q3MIS8	Frame_Shift_Ins	INS	ENST00000329434.2	37	c.521_522insT	CCDS7782.1																																																																																				0.386	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		31	73	NA	NA	NA	NA	31	73	---	---	---	---
RASGRP1	10125	broad.mit.edu	37	15	38794593	38794594	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr15:38794593_38794594insT	ENST00000310803.5	-	12	1634_1635	c.1457_1458insA	c.(1456-1458)cagfs	p.Q486fs	RASGRP1_ENST00000450598.2_Frame_Shift_Ins_p.Q451fs|RASGRP1_ENST00000561180.1_Frame_Shift_Ins_p.Q537fs|RASGRP1_ENST00000539159.1_Frame_Shift_Ins_p.Q438fs|RASGRP1_ENST00000559830.1_Frame_Shift_Ins_p.Q451fs|RP11-102L12.2_ENST00000560231.1_RNA|RASGRP1_ENST00000558164.1_Frame_Shift_Ins_p.Q451fs	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	486	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TGTATCCATCCTGGTCGTGATC	0.391																																						uc001zke.3		NA																	0				large_intestine(1)|ovary(1)	2						c.(1456-1458)CAGfs		RAS guanyl releasing protein 1 isoform a																																				SO:0001589	frameshift_variant	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38794593_38794594insT	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.1458dupA	15.37:g.38794594_38794594dupT	ENSP00000310244:p.Gln486fs					RASGRP1_uc010bbe.2_RNA|RASGRP1_uc010bbf.2_Frame_Shift_Ins_p.Q313fs|RASGRP1_uc010bbg.2_Frame_Shift_Ins_p.Q313fs|RASGRP1_uc001zkd.3_Frame_Shift_Ins_p.Q451fs	p.Q486fs	NM_005739	NP_005730	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	12	1635_1636	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	486			1 (Potential).|EF-hand 1.		Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Frame_Shift_Ins	INS	ENST00000310803.5	37	c.1457_1458insA	CCDS45222.1																																																																																				0.391	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		17	29	NA	NA	NA	NA	17	29	---	---	---	---
ACSF2	80221	broad.mit.edu	37	17	48540530	48540531	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr17:48540530_48540531insC	ENST00000300441.4	+	7	910_911	c.806_807insC	c.(805-810)agccccfs	p.SP269fs	ACSF2_ENST00000504392.1_Frame_Shift_Ins_p.SP226fs|ACSF2_ENST00000541920.1_Frame_Shift_Ins_p.SP109fs|ACSF2_ENST00000427954.2_Frame_Shift_Ins_p.SP294fs|ACSF2_ENST00000502667.1_Frame_Shift_Ins_p.SP256fs	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	269					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			ACAACAGGCAGCCCCAAGGGGG	0.589																																						uc002iqu.2		NA																	0					0						c.(805-807)AGCfs		acyl-CoA synthetase family member 2 precursor																																				SO:0001589	frameshift_variant	80221				fatty acid metabolic process	mitochondrion	ATP binding|ligase activity	g.chr17:48540530_48540531insC	AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"""Acyl-CoA synthetase family"""	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.810dupC	17.37:g.48540534_48540534dupC	ENSP00000300441:p.Ser269fs					ACSF2_uc010wml.1_Frame_Shift_Ins_p.S226fs|ACSF2_uc010wmm.1_Frame_Shift_Ins_p.S294fs|ACSF2_uc010wmn.1_Frame_Shift_Ins_p.S256fs|ACSF2_uc010wmo.1_Frame_Shift_Ins_p.S109fs	p.S269fs	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		7	910_911	+	Breast(11;1.93e-18)		269			ATP (By similarity).		B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Frame_Shift_Ins	INS	ENST00000300441.4	37	c.806_807insC	CCDS11567.1																																																																																				0.589	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367423.3	NM_025149		36	326	NA	NA	NA	NA	36	326	---	---	---	---
UGT1A1	54658	broad.mit.edu	37	2	234669681	234669682	+	Frame_Shift_Ins	INS	-	-	GGACAGTCAC	rs57307513	byFrequency	TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr2:234669681_234669682insGGACAGTCAC	ENST00000608383.1	+	1	748_749	c.748_749insGGACAGTCAC	c.(748-750)tctfs	p.S250fs	UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000360418.3_Frame_Shift_Ins_p.S250fs|UGT1A1_ENST00000609767.1_Intron|UGT1A8_ENST00000305208.5_Frame_Shift_Ins_p.S250fs|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	250					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	CCTATTGAGCTCTGCATCTGTC	0.47																																						uc002vvb.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(748-750)TCTfs		UDP glycosyltransferase 1 family, polypeptide A1	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)																																			SO:0001589	frameshift_variant	54658				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234669681_234669682insGGACAGTCAC	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	Exception_encountered	2.37:g.234669681_234669682insGGACAGTCAC	ENSP00000476741:p.Ser250fs					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Frame_Shift_Ins_p.S250fs	p.S250fs	NM_000463	NP_000454	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	1	763_764	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	250					A6NJC3|B8K286	Frame_Shift_Ins	INS	ENST00000608383.1	37	c.748_749insGGACAGTCAC	CCDS2510.1																																																																																				0.470	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	protein_coding				24	280	NA	NA	NA	NA	24	280	---	---	---	---
SLC39A7	7922	broad.mit.edu	37	6	33171561	33171562	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr6:33171561_33171562insT	ENST00000374677.3	+	7	1754_1755	c.1381_1382insT	c.(1381-1383)atgfs	p.M461fs	HSD17B8_ENST00000374662.3_5'Flank|SLC39A7_ENST00000374675.3_Frame_Shift_Ins_p.M461fs|SLC39A7_ENST00000463972.1_3'UTR|RXRB_ENST00000544186.1_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	461				CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305). {ECO:0000305}.	transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GGGAGTTATCATGATGGTGCTG	0.569																																						uc003odf.2		NA																	0				large_intestine(1)	1						c.(1381-1383)ATGfs		solute carrier family 39, member 7																																				SO:0001589	frameshift_variant	7922					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	g.chr6:33171561_33171562insT	AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.1382dupT	6.37:g.33171562_33171562dupT	ENSP00000363809:p.Met461fs					RXRB_uc011dqr.1_5'Flank|SLC39A7_uc003odg.2_Frame_Shift_Ins_p.M461fs|SLC39A7_uc011dqv.1_Frame_Shift_Ins_p.M336fs|SLC39A7_uc003odh.2_Frame_Shift_Ins_p.M109fs|HSD17B8_uc003odi.1_5'Flank	p.M461fs	NM_001077516	NP_001070984	Q92504	S39A7_HUMAN			8	1498_1499	+			461	CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305).				B0UXF6|Q5STP8|Q9UIQ0	Frame_Shift_Ins	INS	ENST00000374677.3	37	c.1381_1382insT	CCDS43453.1																																																																																				0.569	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979		23	114	NA	NA	NA	NA	23	114	---	---	---	---
GPR115	221393	broad.mit.edu	37	6	47682289	47682290	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr6:47682289_47682290insT	ENST00000283303.2	+	6	1566_1567	c.1308_1309insT	c.(1309-1311)tacfs	p.Y437fs	GPR115_ENST00000327753.3_Frame_Shift_Ins_p.Y437fs|RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000371220.1_Frame_Shift_Ins_p.Y494fs	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	437					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CGGAGATATCATACATGCGTCA	0.485																																					GBM(22;431 510 9010 26644 32828)	uc003oza.1		NA																	0				ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1306-1311)TCATACfs		G-protein coupled receptor 115 precursor																																				SO:0001589	frameshift_variant	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47682289_47682290insT	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1309dupT	6.37:g.47682290_47682290dupT	ENSP00000283303:p.Tyr437fs					GPR115_uc003oyz.1_Frame_Shift_Ins_p.S493fs|GPR115_uc003ozb.1_Frame_Shift_Ins_p.S434fs	p.S436fs	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN			6	1566_1567	+			436_437			Cytoplasmic (Potential).		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Frame_Shift_Ins	INS	ENST00000283303.2	37	c.1308_1309insT	CCDS4922.2																																																																																				0.485	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		89	241	NA	NA	NA	NA	89	241	---	---	---	---
KLHL31	401265	broad.mit.edu	37	6	53516534	53516534	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-4074-01A-01D-1434-08	TCGA-BA-4074-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	2c84e904-0cbc-4645-b7e5-94ec45e61268	c28b58ca-f8e1-4063-908e-3ecf58104b68	g.chr6:53516534delG	ENST00000407079.1	-	2	1766	c.1767delC	c.(1765-1767)cccfs	p.P589fs	KLHL31_ENST00000370905.3_Frame_Shift_Del_p.P589fs			Q9H511	KLH31_HUMAN	kelch-like family member 31	589					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					CGTTGAGCTCGGGGCTGAAGC	0.652											OREG0017507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003pcb.3		NA																	0				ovary(1)	1						c.(1765-1767)CCCfs		kelch repeat and BTB (POZ) domain containing 1							120.0	106.0	110.0					6																	53516534		2203	4300	6503	SO:0001589	frameshift_variant	401265				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr6:53516534delG		CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.1767delC	6.37:g.53516534delG	ENSP00000384644:p.Pro589fs		OREG0017507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	993	uc003pcc.1_5'UTR	p.P589fs	NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN			3	1908	-	Lung NSC(77;0.0158)		589			Kelch 6.		A6N9J2|B2RP49	Frame_Shift_Del	DEL	ENST00000407079.1	37	c.1767delC	CCDS34478.1																																																																																				0.652	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		38	97	NA	NA	NA	NA	38	97	---	---	---	---
