#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
TAS1R3	83756	broad.mit.edu	37	1	1269065	1269065	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:1269065C>T	ENST00000339381.5	+	6	1812	c.1780C>T	c.(1780-1782)Cgg>Tgg	p.R594W		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	594					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		CGTTCACCATCGGGACAGCCC	0.687																																						uc010nyk.1		NA																	0					0						c.(1780-1782)CGG>TGG		taste receptor, type 1, member 3 precursor	Aspartame(DB00168)																																			SO:0001583	missense	83756				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:1269065C>T	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1780C>T	1.37:g.1269065C>T	ENSP00000344411:p.Arg594Trp						p.R594W	NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	6	1780	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	594			Cytoplasmic (Potential).		Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	c.1780C>T	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	C	5.794	0.330910	0.10956	.	.	ENSG00000169962	ENST00000339381	D	0.90261	-2.64	4.04	-5.72	0.02406	GPCR, family 3, C-terminal (2);	0.544493	0.16927	N	0.193840	T	0.79661	0.4484	L	0.41710	1.295	0.09310	N	1	B	0.30824	0.296	B	0.24848	0.056	T	0.66862	-0.5816	10	0.45353	T	0.12	.	4.7835	0.13213	0.2296:0.3365:0.0:0.434	.	594	Q7RTX0	TS1R3_HUMAN	W	594	ENSP00000344411:R594W	ENSP00000344411:R594W	R	+	1	2	TAS1R3	1258928	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.190000	0.09615	-1.071000	0.03145	0.456000	0.33151	CGG		0.687	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			4	22	0	0	0	0	4	22				
SLC45A1	50651	broad.mit.edu	37	1	8386047	8386047	+	Missense_Mutation	SNP	C	C	A	rs144175783		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:8386047C>A	ENST00000471889.1	+	4	1045	c.660C>A	c.(658-660)gaC>gaA	p.D220E	Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000377479.2_Missense_Mutation_p.D254E|SLC45A1_ENST00000289877.8_Missense_Mutation_p.D220E			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	220					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		ACATGATGGACGTGTGCAGCC	0.657																																						uc001apb.2		NA																	0				central_nervous_system(2)|pancreas(1)|skin(1)	4						c.(658-660)GAC>GAA		DNB5							83.0	77.0	79.0					1																	8386047		2203	4300	6503	SO:0001583	missense	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8386047C>A	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.660C>A	1.37:g.8386047C>A	ENSP00000418096:p.Asp220Glu						p.D220E	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	3	660	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	220					Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	c.660C>A	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795752	0.70452	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	D;D;D	0.94092	-3.35;-3.35;-3.35	5.18	-2.26	0.06867	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.95230	0.8453	M	0.78049	2.395	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	D	0.93329	0.6699	10	0.87932	D	0	-42.7891	10.277	0.43517	0.0:0.2761:0.0:0.7239	.	220	Q9Y2W3	S45A1_HUMAN	E	220;254;220	ENSP00000418096:D220E;ENSP00000366699:D254E;ENSP00000289877:D220E	ENSP00000289877:D220E	D	+	3	2	SLC45A1	8308634	0.856000	0.29760	0.993000	0.49108	0.839000	0.47603	-0.051000	0.11885	-0.274000	0.09232	-1.020000	0.02445	GAC		0.657	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			28	42	1	0	1.27e-14	1.61e-14	28	42				
TCEB3	6924	broad.mit.edu	37	1	24077469	24077469	+	Missense_Mutation	SNP	G	G	A	rs201208839	byFrequency	TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:24077469G>A	ENST00000418390.2	+	4	723	c.452G>A	c.(451-453)aGc>aAc	p.S151N	TCEB3_ENST00000609199.1_Missense_Mutation_p.S125N	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	151					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CGATCCTATAGCCCTGACCAC	0.552													G|||	2	0.000399361	0.0	0.0	5008	,	,		17731	0.002		0.0	False		,,,				2504	0.0					uc001bho.2		NA																	0				ovary(1)	1						c.(451-453)AGC>AAC		elongin A							54.0	60.0	58.0					1																	24077469		2203	4300	6503	SO:0001583	missense	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24077469G>A	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.452G>A	1.37:g.24077469G>A	ENSP00000395574:p.Ser151Asn						p.S151N	NM_003198	NP_003189	Q14241	ELOA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	4	512	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	151					B2R7Q8|Q8IXH1	Missense_Mutation	SNP	ENST00000418390.2	37	c.452G>A	CCDS239.2	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	18.03	3.533276	0.64972	.	.	ENSG00000011007	ENST00000418390	T	0.08807	3.05	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.21921	0.0528	M	0.70275	2.135	0.36302	D	0.857071	D	0.62365	0.991	P	0.58331	0.837	T	0.03761	-1.1006	10	0.35671	T	0.21	-18.2578	12.4293	0.55565	0.0766:0.0:0.9234:0.0	.	151	Q14241	ELOA1_HUMAN	N	151	ENSP00000395574:S151N	ENSP00000395574:S151N	S	+	2	0	TCEB3	23950056	0.997000	0.39634	0.963000	0.40424	0.966000	0.64601	3.610000	0.54125	2.715000	0.92844	0.655000	0.94253	AGC		0.552	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		13	27	0	0	0	0	13	27				
MACF1	23499	broad.mit.edu	37	1	39759235	39759235	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:39759235G>A	ENST00000372915.3	+	17	2200	c.2113G>A	c.(2113-2115)Gca>Aca	p.A705T	MACF1_ENST00000545844.1_Missense_Mutation_p.A705T|MACF1_ENST00000361689.2_Missense_Mutation_p.A705T|MACF1_ENST00000564288.1_Missense_Mutation_p.A700T|MACF1_ENST00000567887.1_Missense_Mutation_p.A737T|MACF1_ENST00000539005.1_Missense_Mutation_p.A705T|MACF1_ENST00000317713.7_Missense_Mutation_p.A705T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	705					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGAGGAACTAGCATATGACTG	0.443																																						uc010ois.1		NA																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(2113-2115)GCA>ACA		microfilament and actin filament cross-linker							149.0	138.0	142.0					1																	39759235		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39759235G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.2113G>A	1.37:g.39759235G>A	ENSP00000362006:p.Ala705Thr					MACF1_uc001cda.1_Missense_Mutation_p.A613T	p.A705T	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		19	2318	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	705					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.2113G>A		.	.	.	.	.	.	.	.	.	.	G	16.59	3.164655	0.57476	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	D;D;D;D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49	5.87	5.87	0.94306	.	.	.	.	.	D	0.95796	0.8632	L	0.48218	1.51	0.80722	D	1	B;D	0.64830	0.08;0.994	B;D	0.66602	0.032;0.945	D	0.92960	0.6388	9	0.18710	T	0.47	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	705;670	F8W8Q1;Q9UPN3-3	.;.	T	705;705;705;705;705;663;854;865	ENSP00000439537:A705T;ENSP00000362006:A705T;ENSP00000354573:A705T;ENSP00000313438:A705T;ENSP00000444364:A705T;ENSP00000435070:A663T;ENSP00000437059:A854T	ENSP00000313438:A705T	A	+	1	0	MACF1	39531822	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.593000	0.61034	2.941000	0.99782	0.655000	0.94253	GCA		0.443	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		12	51	0	0	0	0	12	51				
KLF17	128209	broad.mit.edu	37	1	44596220	44596220	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:44596220C>G	ENST00000372299.3	+	3	1020	c.962C>G	c.(961-963)tCa>tGa	p.S321*	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	321					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GAAAGTTGTTCATGGTCTTTC	0.463																																						uc001clp.2		NA																	0				ovary(1)|skin(1)	2						c.(961-963)TCA>TGA		zinc finger protein 393							141.0	130.0	134.0					1																	44596220		2203	4300	6503	SO:0001587	stop_gained	128209				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:44596220C>G	BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	18830	protein-coding gene	gene with protein product		609602	"""zinc finger protein 393"""	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.962C>G	1.37:g.44596220C>G	ENSP00000361373:p.Ser321*						p.S321*	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN			3	1020	+	Acute lymphoblastic leukemia(166;0.155)		321			C2H2-type 2.		Q86VQ7|Q8N805	Nonsense_Mutation	SNP	ENST00000372299.3	37	c.962C>G	CCDS508.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.396136	0.25205	.	.	ENSG00000171872	ENST00000372299	.	.	.	4.47	-6.03	0.02185	.	1.107800	0.06948	N	0.814079	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	3.0319	0.06109	0.5156:0.1711:0.2136:0.0997	.	.	.	.	X	321	.	ENSP00000361373:S321X	S	+	2	0	KLF17	44368807	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.232000	0.02936	-1.128000	0.02922	-1.444000	0.01066	TCA		0.463	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484		3	76	0	0	0	0	3	76				
FCRL1	115350	broad.mit.edu	37	1	157773638	157773638	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:157773638G>T	ENST00000368176.3	-	3	383	c.316C>A	c.(316-318)Cac>Aac	p.H106N	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000358292.3_Missense_Mutation_p.H106N|FCRL1_ENST00000491942.1_Missense_Mutation_p.H106N	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACTCACTGTGCACATTTATC	0.522																																					GBM(54;482 1003 11223 30131 35730)	uc001frg.2		NA																	0				skin(4)|ovary(3)	7						c.(316-318)CAC>AAC		Fc receptor-like 1 isoform 1 precursor							104.0	87.0	93.0					1																	157773638		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157773638G>T	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.316C>A	1.37:g.157773638G>T	ENSP00000357158:p.His106Asn					FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Missense_Mutation_p.H106N|FCRL1_uc001fri.2_Missense_Mutation_p.H106N|FCRL1_uc001frj.2_RNA	p.H106N	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	429	-	all_hematologic(112;0.0378)		106			Extracellular (Potential).		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.316C>A	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.423018	0.25639	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.42900	0.96;1.12;1.13	4.55	0.0983	0.14497	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	4.299030	0.00520	N	0.000197	T	0.15176	0.0366	L	0.47716	1.5	0.09310	N	1	B;B;B	0.32101	0.356;0.132;0.08	B;B;B	0.34536	0.185;0.133;0.134	T	0.08229	-1.0732	10	0.27785	T	0.31	.	2.2954	0.04149	0.0986:0.1744:0.3954:0.3316	.	106;106;106	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	N	106	ENSP00000351039:H106N;ENSP00000357158:H106N;ENSP00000418130:H106N	ENSP00000351039:H106N	H	-	1	0	FCRL1	156040262	0.005000	0.15991	0.001000	0.08648	0.001000	0.01503	0.806000	0.27126	0.242000	0.21303	-0.826000	0.03091	CAC		0.522	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		5	49	1	0	0.000602214	0.000642619	5	49				
CD84	8832	broad.mit.edu	37	1	160523210	160523210	+	Silent	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:160523210G>A	ENST00000311224.4	-	4	784	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L	CD84_ENST00000368051.3_Silent_p.L240L|CD84_ENST00000534968.1_Silent_p.L126L|CD84_ENST00000368047.3_5'Flank|CD84_ENST00000368048.3_Silent_p.L240L|CD84_ENST00000368054.3_Silent_p.L240L|RP11-528G1.2_ENST00000446952.1_RNA	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	240					blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ACTGAAGACAGAATGAGAACA	0.468																																						uc001fwh.3		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(718-720)CTG>TTG		CD84 molecule							108.0	105.0	106.0					1																	160523210		2203	4300	6503	SO:0001819	synonymous_variant	8832				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	g.chr1:160523210G>A	AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1704	protein-coding gene	gene with protein product		604513	"""CD84 antigen (leukocyte antigen)"", ""CD84 molecule """			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.718C>T	1.37:g.160523210G>A						CD84_uc001fwf.3_Silent_p.L240L|CD84_uc001fwg.3_Silent_p.L240L|CD84_uc009wtn.2_Silent_p.L240L|CD84_uc001fwi.3_Silent_p.L126L|CD84_uc001fwj.2_Silent_p.L240L	p.L240L	NM_003874	NP_003865	Q9UIB8	SLAF5_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		4	742	-	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		240			Helical; (Potential).		B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Silent	SNP	ENST00000311224.4	37	c.718C>T	CCDS53396.1																																																																																				0.468	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874		4	38	0	0	0	0	4	38				
POGK	57645	broad.mit.edu	37	1	166818449	166818449	+	Silent	SNP	T	T	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:166818449T>C	ENST00000367875.1	+	5	993	c.633T>C	c.(631-633)taT>taC	p.Y211Y	POGK_ENST00000537173.1_Silent_p.Y93Y|POGK_ENST00000536514.1_Silent_p.Y126Y|POGK_ENST00000367876.4_Silent_p.Y211Y			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	211					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						TAGTGGAATATGCTGAGAGTA	0.527																																					GBM(76;192 1530 30153 48742)	uc001gdt.1		NA																	0				ovary(1)	1						c.(631-633)TAT>TAC		pogo transposable element with KRAB domain							58.0	56.0	57.0					1																	166818449		2203	4300	6503	SO:0001819	synonymous_variant	57645				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr1:166818449T>C	AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"""-"""	18800	protein-coding gene	gene with protein product	"""KRAB box domain containing 2"""						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.633T>C	1.37:g.166818449T>C						POGK_uc010ple.1_Silent_p.Y126Y|POGK_uc010plf.1_Silent_p.Y93Y	p.Y211Y	NM_017542	NP_060012	Q9P215	POGK_HUMAN			5	753	+			211					Q5TIJ1|Q8TE07	Silent	SNP	ENST00000367875.1	37	c.633T>C	CCDS1254.1																																																																																				0.527	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1	NM_017542		21	28	0	0	0	0	21	28				
FAM129A	116496	broad.mit.edu	37	1	184764621	184764621	+	Silent	SNP	G	G	A	rs569878628		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:184764621G>A	ENST00000367511.3	-	14	2470	c.2277C>T	c.(2275-2277)caC>caT	p.H759H	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	759	Glu-rich.				negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						AGTTGTCGGGGTGGATGGCAG	0.562																																						uc001gra.2		NA																	0				ovary(3)|skin(1)	4						c.(2275-2277)CAC>CAT		niban protein isoform 2							183.0	197.0	192.0					1																	184764621		2203	4300	6503	SO:0001819	synonymous_variant	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184764621G>A	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.2277C>T	1.37:g.184764621G>A						FAM129A_uc001grb.1_Intron	p.H759H	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN			14	2471	-			759			Glu-rich.		Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Silent	SNP	ENST00000367511.3	37	c.2277C>T	CCDS1364.1																																																																																				0.562	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			70	159	0	0	0	0	70	159				
NAV1	89796	broad.mit.edu	37	1	201618224	201618224	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:201618224A>G	ENST00000367296.4	+	1	848	c.428A>G	c.(427-429)gAg>gGg	p.E143G	NAV1_ENST00000295624.6_Missense_Mutation_p.E143G|NAV1_ENST00000367297.4_Missense_Mutation_p.E143G|NAV1_ENST00000367302.1_Missense_Mutation_p.E156G|NAV1_ENST00000367300.3_Missense_Mutation_p.E143G	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	143					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TCCAAGTCGGAGCACTCGCTC	0.672																																						uc001gwu.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(427-429)GAG>GGG		neuron navigator 1							35.0	37.0	36.0					1																	201618224		2202	4300	6502	SO:0001583	missense	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201618224A>G	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.428A>G	1.37:g.201618224A>G	ENSP00000356265:p.Glu143Gly						p.E143G	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN			1	775	+			143					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	c.428A>G	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	A	24.3	4.514033	0.85389	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.55832	0.1945	L	0.51422	1.61	0.46396	D	0.99902	D	0.64830	0.994	D	0.65773	0.938	T	0.58645	-0.7600	10	0.66056	D	0.02	-25.4154	12.7435	0.57266	1.0:0.0:0.0:0.0	.	143	Q8NEY1-3	.	G	156;143;143;143;143	ENSP00000356271:E156G;ENSP00000356265:E143G;ENSP00000295624:E143G;ENSP00000356266:E143G;ENSP00000356269:E143G	ENSP00000295624:E143G	E	+	2	0	NAV1	199884847	1.000000	0.71417	0.996000	0.52242	0.867000	0.49689	7.856000	0.86956	1.826000	0.53198	0.260000	0.18958	GAG		0.672	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		5	10	0	0	0	0	5	10				
LAMB3	3914	broad.mit.edu	37	1	209804074	209804074	+	Missense_Mutation	SNP	C	C	T	rs369999185		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:209804074C>T	ENST00000356082.4	-	9	963	c.829G>A	c.(829-831)Gat>Aat	p.D277N	LAMB3_ENST00000391911.1_Missense_Mutation_p.D277N|LAMB3_ENST00000367030.3_Missense_Mutation_p.D277N	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	277	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ACACAGACATCGTGGACCTGG	0.627																																						uc001hhg.2		NA																	0				central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6						c.(829-831)GAT>AAT		laminin, beta 3 precursor		C	ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	51.0	48.0	49.0		829,829,829	4.0	0.6	1		49	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	LAMB3	NM_000228.2,NM_001017402.1,NM_001127641.1	23,23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	277/1173,277/1173,277/1173	209804074	1,13005	2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209804074C>T	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.829G>A	1.37:g.209804074C>T	ENSP00000348384:p.Asp277Asn					LAMB3_uc009xco.2_Missense_Mutation_p.D277N|LAMB3_uc001hhh.2_Missense_Mutation_p.D277N|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Missense_Mutation_p.D213N	p.D277N	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	8	1219	-			277			Laminin EGF-like 1.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.829G>A	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.451562	0.26074	0.0	1.16E-4	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.61158	0.13;0.13;0.13	4.95	4.02	0.46733	EGF-like, laminin (3);	0.416696	0.26638	N	0.023262	T	0.45196	0.1330	L	0.41824	1.3	0.09310	N	0.999996	B;B	0.24043	0.066;0.096	B;B	0.19946	0.008;0.027	T	0.21759	-1.0236	10	0.10636	T	0.68	.	13.7233	0.62743	0.0:0.9235:0.0:0.0765	.	277;277	B4DL55;Q13751	.;LAMB3_HUMAN	N	277	ENSP00000375778:D277N;ENSP00000348384:D277N;ENSP00000355997:D277N	ENSP00000348384:D277N	D	-	1	0	LAMB3	207870697	0.010000	0.17322	0.645000	0.29479	0.936000	0.57629	2.095000	0.41729	1.201000	0.43203	0.650000	0.86243	GAT		0.627	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		4	36	0	0	0	0	4	36				
USH2A	7399	broad.mit.edu	37	1	215847915	215847915	+	Silent	SNP	G	G	A	rs111033408|rs369514651		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:215847915G>A	ENST00000307340.3	-	63	13724	c.13338C>T	c.(13336-13338)aaC>aaT	p.N4446N	USH2A_ENST00000366943.2_Silent_p.N4446N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4446	Fibronectin type-III 30. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAGAGTCCATGTTCTCTGGCA	0.463										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(13336-13338)AAC>AAT		usherin isoform B		G		1,4405	2.1+/-5.4	0,1,2202	84.0	83.0	83.0		13338	3.5	1.0	1		83	0,8600		0,0,4300	no	coding-synonymous	USH2A	NM_206933.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		4446/5203	215847915	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215847915G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.13338C>T	1.37:g.215847915G>A		HNSCC(13;0.011)					p.N4446N	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	13725	-			4446			Fibronectin type-III 30.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.13338C>T	CCDS31025.1																																																																																				0.463	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		41	31	0	0	0	0	41	31				
ZNF695	57116	broad.mit.edu	37	1	247162685	247162685	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:247162685C>A	ENST00000339986.7	-	3	371	c.224G>T	c.(223-225)tGg>tTg	p.W75L	ZNF695_ENST00000487338.2_Missense_Mutation_p.W75L|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	75	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GTTCACGTTCCAGGGCTCTTT	0.468																																						uc009xgu.2		NA																	0					0						c.(223-225)TGG>TTG		zinc finger protein SBZF3							113.0	117.0	116.0					1																	247162685		2048	4248	6296	SO:0001583	missense	57116				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr1:247162685C>A		CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"""Zinc fingers, C2H2-type"", ""-"""	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.224G>T	1.37:g.247162685C>A	ENSP00000341236:p.Trp75Leu					ZNF695_uc001ica.2_RNA|ZNF695_uc001icb.1_RNA|ZNF695_uc009xgt.1_RNA|ZNF695_uc001ibx.2_Missense_Mutation_p.W75L|ZNF695_uc001iby.2_RNA|ZNF695_uc001icc.2_Missense_Mutation_p.W63L	p.W75L	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		3	369	-	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	75			KRAB.		Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Missense_Mutation	SNP	ENST00000339986.7	37	c.224G>T	CCDS44344.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.871888	0.33069	.	.	ENSG00000197472	ENST00000487338;ENST00000391780;ENST00000339986	T;T	0.08807	5.46;3.05	0.149	0.149	0.14863	Krueppel-associated box (2);	.	.	.	.	T	0.17109	0.0411	M	0.66378	2.025	0.09310	N	0.999993	P;P;D	0.62365	0.659;0.608;0.991	B;B;P	0.57101	0.307;0.218;0.813	T	0.10222	-1.0639	8	0.46703	T	0.11	.	.	.	.	.	75;63;75	Q8IW36;F2Z2N8;Q8IW36-1	ZN695_HUMAN;.;.	L	75	ENSP00000429736:W75L;ENSP00000341236:W75L	ENSP00000428213:W63L	W	-	2	0	ZNF695	245229308	0.384000	0.25164	0.312000	0.25196	0.314000	0.28054	0.917000	0.28665	0.192000	0.20272	0.195000	0.17529	TGG		0.468	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097823.5	NM_020394		8	31	1	0	5.49e-09	6.53e-09	8	31				
ARHGAP21	57584	broad.mit.edu	37	10	24873384	24873384	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr10:24873384G>A	ENST00000396432.2	-	26	6320	c.5834C>T	c.(5833-5835)tCt>tTt	p.S1945F		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1944					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGGGGTTTCAGACAGTTTATG	0.448																																						uc001isb.2		NA																	0				ovary(7)|pancreas(1)	8						c.(5833-5835)TCT>TTT		Rho GTPase activating protein 21							106.0	103.0	104.0					10																	24873384		2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24873384G>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.5834C>T	10.37:g.24873384G>A	ENSP00000379709:p.Ser1945Phe					ARHGAP21_uc010qdb.1_RNA	p.S1945F	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN			26	6321	-			1944					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.5834C>T	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816006	0.50527	.	.	ENSG00000107863	ENST00000396432;ENST00000447364	T	0.18502	2.21	5.52	4.61	0.57282	.	0.424638	0.26549	N	0.023753	T	0.27866	0.0686	M	0.71581	2.175	0.80722	D	1	P	0.45396	0.857	P	0.44477	0.451	T	0.12451	-1.0547	10	0.87932	D	0	.	16.4995	0.84253	0.0:0.1308:0.8692:0.0	.	1944	Q5T5U3	RHG21_HUMAN	F	1945;1394	ENSP00000379709:S1945F	ENSP00000379709:S1945F	S	-	2	0	ARHGAP21	24913390	0.997000	0.39634	0.012000	0.15200	0.693000	0.40251	5.154000	0.64894	1.301000	0.44836	0.655000	0.94253	TCT		0.448	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		41	99	0	0	0	0	41	99				
ARHGAP21	57584	broad.mit.edu	37	10	24955940	24955940	+	Splice_Site	SNP	T	T	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr10:24955940T>A	ENST00000396432.2	-	4	730		c.e4-2			NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21						establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTCTTCATCCTACAAATGAAA	0.289																																						uc001isb.2		NA																	0				ovary(7)|pancreas(1)	8						c.e4-1		Rho GTPase activating protein 21							42.0	44.0	43.0					10																	24955940		2178	4284	6462	SO:0001630	splice_region_variant	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24955940T>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.244-2A>T	10.37:g.24955940T>A						ARHGAP21_uc009xkl.1_Splice_Site_p.D82_splice|ARHGAP21_uc001isc.1_Splice_Site_p.D82_splice|ARHGAP21_uc001isd.1_Splice_Site_p.D82_splice	p.D82_splice	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN			4	731	-								Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Splice_Site	SNP	ENST00000396432.2	37	c.244_splice	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	T	18.82	3.705354	0.68615	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000376410;ENST00000446003;ENST00000416305	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0784	0.72093	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGAP21	24995946	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.647000	0.67923	2.021000	0.59480	0.533000	0.62120	.		0.289	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824	Intron	3	13	0	0	0	0	3	13				
RBP3	5949	broad.mit.edu	37	10	48387849	48387849	+	Missense_Mutation	SNP	C	C	T	rs149031179		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr10:48387849C>T	ENST00000224600.4	-	1	3142	c.3029G>A	c.(3028-3030)cGc>cAc	p.R1010H	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1010	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.R1010H(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TCCAGGAATGCGGTCCTTGGC	0.597																																						uc001jez.2		NA																	1	Substitution - Missense(1)		prostate(1)	large_intestine(1)|central_nervous_system(1)	2						c.(3028-3030)CGC>CAC		retinol-binding protein 3 precursor	Vitamin A(DB00162)						97.0	105.0	102.0					10																	48387849		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48387849C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.3029G>A	10.37:g.48387849C>T	ENSP00000224600:p.Arg1010His						p.R1010H	NM_002900	NP_002891	P10745	RET3_HUMAN			1	3143	-			1010			4 X approximate tandem repeats.|4.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.3029G>A	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.850487	0.32699	.	.	ENSG00000107618	ENST00000224600	T	0.64260	-0.09	5.28	3.4	0.38934	.	0.253639	0.45867	N	0.000323	T	0.55909	0.1950	L	0.59436	1.845	0.29650	N	0.844067	B	0.13145	0.007	B	0.08055	0.003	T	0.53753	-0.8394	10	0.42905	T	0.14	-8.7331	10.976	0.47467	0.0:0.8467:0.0:0.1533	.	1010	P10745	RET3_HUMAN	H	1010	ENSP00000224600:R1010H	ENSP00000224600:R1010H	R	-	2	0	RBP3	48007855	0.997000	0.39634	0.992000	0.48379	0.990000	0.78478	0.507000	0.22675	0.593000	0.29745	0.655000	0.94253	CGC		0.597	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		4	116	0	0	0	0	4	116				
FRMPD2	143162	broad.mit.edu	37	10	49393603	49393603	+	Silent	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr10:49393603A>G	ENST00000374201.3	-	18	2654	c.2352T>C	c.(2350-2352)cgT>cgC	p.R784R	FRMPD2_ENST00000407470.4_Silent_p.R752R|FRMPD2_ENST00000305531.3_Silent_p.R759R	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	784	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TACCAAAACCACGATGTGGGT	0.507																																						uc001jgi.2		NA																	0				large_intestine(1)	1						c.(2350-2352)CGT>CGC		FERM and PDZ domain containing 2 isoform 3							158.0	133.0	142.0					10																	49393603		2203	4300	6503	SO:0001819	synonymous_variant	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49393603A>G	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2352T>C	10.37:g.49393603A>G						FRMPD2_uc001jgh.2_Silent_p.R752R|FRMPD2_uc001jgj.2_Silent_p.R762R	p.R784R	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	18	2459	-			784			PDZ 1.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Silent	SNP	ENST00000374201.3	37	c.2352T>C	CCDS31195.1																																																																																				0.507	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		17	30	0	0	0	0	17	30				
USP54	159195	broad.mit.edu	37	10	75335341	75335341	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr10:75335341A>T	ENST00000339859.4	-	2	176	c.76T>A	c.(76-78)Tcc>Acc	p.S26T	USP54_ENST00000408019.1_Missense_Mutation_p.S26T|USP54_ENST00000319786.7_Missense_Mutation_p.S26T|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000428547.1_Missense_Mutation_p.S26T			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	26					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GGGGCTATGGAGGTTGAGCTT	0.458																																					Colon(195;880 2046 8854 25025 38456)	uc001juo.2		NA																	0				breast(3)|lung(2)|kidney(1)	6						c.(76-78)TCC>ACC		ubiquitin specific peptidase 54							106.0	104.0	105.0					10																	75335341		1956	4145	6101	SO:0001583	missense	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75335341A>T	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.76T>A	10.37:g.75335341A>T	ENSP00000345216:p.Ser26Thr					USP54_uc001jup.2_Missense_Mutation_p.S26T|USP54_uc010qkl.1_Missense_Mutation_p.S26T	p.S26T	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN			1	93	-	Prostate(51;0.0112)		26					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	c.76T>A	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	A	17.15	3.314971	0.60524	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000319786;ENST00000451492;ENST00000413442;ENST00000433394	T;T;T	0.32515	1.45;1.45;1.76	5.87	5.87	0.94306	.	0.073521	0.56097	U	0.000033	T	0.42607	0.1210	L	0.58583	1.82	0.40966	D	0.984662	P;P;P	0.48503	0.615;0.734;0.911	B;B;P	0.49387	0.1;0.391;0.609	T	0.38457	-0.9660	10	0.59425	D	0.04	-7.2735	16.2813	0.82687	1.0:0.0:0.0:0.0	.	26;26;26	B7Z7X1;Q70EL1-6;Q70EL1	.;.;UBP54_HUMAN	T	26	ENSP00000345216:S26T;ENSP00000386080:S26T;ENSP00000408714:S26T	ENSP00000326547:S26T	S	-	1	0	USP54	75005347	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.065000	0.76727	2.244000	0.73946	0.533000	0.62120	TCC		0.458	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		22	37	0	0	0	0	22	37				
MICALCL	84953	broad.mit.edu	37	11	12379876	12379876	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:12379876G>T	ENST00000256186.2	+	9	2229	c.1938G>T	c.(1936-1938)gaG>gaT	p.E646D		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	646					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TAAACGAAGAGCAAGAAGTAT	0.473																																						uc001mkg.1		NA																	0				skin(1)	1						c.(1936-1938)GAG>GAT		MICAL C-terminal like							161.0	152.0	155.0					11																	12379876		1904	4128	6032	SO:0001583	missense	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12379876G>T	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1938G>T	11.37:g.12379876G>T	ENSP00000256186:p.Glu646Asp						p.E646D	NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	9	2229	+			646			Potential.		Q7RTP7|Q96JU6	Missense_Mutation	SNP	ENST00000256186.2	37	c.1938G>T	CCDS41620.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.555390	0.45487	.	.	ENSG00000133808	ENST00000256186	T	0.63096	-0.02	5.33	2.0	0.26442	Domain of unknown function DUF3585 (1);	0.000000	0.30193	U	0.010184	T	0.79161	0.4399	M	0.90922	3.16	0.34567	D	0.712961	D	0.69078	0.997	D	0.75020	0.985	T	0.83039	-0.0158	10	0.87932	D	0	.	7.3152	0.26498	0.4204:0.0:0.5796:0.0	.	646	Q6ZW33	MICLK_HUMAN	D	646	ENSP00000256186:E646D	ENSP00000256186:E646D	E	+	3	2	MICALCL	12336452	0.994000	0.37717	1.000000	0.80357	0.280000	0.26924	1.399000	0.34566	0.634000	0.30469	-0.140000	0.14226	GAG		0.473	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		31	94	1	0	5.46e-16	7.04e-16	31	94				
LRRC4C	57689	broad.mit.edu	37	11	40136107	40136107	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:40136107G>T	ENST00000278198.2	-	2	3699	c.1736C>A	c.(1735-1737)aCa>aAa	p.T579K	LRRC4C_ENST00000527150.1_Missense_Mutation_p.T579K|LRRC4C_ENST00000528697.1_Missense_Mutation_p.T579K|LRRC4C_ENST00000530763.1_Missense_Mutation_p.T579K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	579					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TTCCATGGGTGTGTCTCCCGT	0.448																																						uc001mxa.1		NA																	0				ovary(4)|skin(3)|central_nervous_system(1)	8						c.(1735-1737)ACA>AAA		netrin-G1 ligand precursor							219.0	212.0	214.0					11																	40136107		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136107G>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1736C>A	11.37:g.40136107G>T	ENSP00000278198:p.Thr579Lys					LRRC4C_uc001mxc.1_Missense_Mutation_p.T575K|LRRC4C_uc001mxd.1_Missense_Mutation_p.T575K|LRRC4C_uc001mxb.1_Missense_Mutation_p.T575K	p.T579K	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	3700	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	579					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.1736C>A	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	3.216	-0.160671	0.06502	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	6.17	6.17	0.99709	.	0.224693	0.45867	D	0.000336	T	0.25195	0.0612	N	0.19112	0.55	0.43994	D	0.996691	B	0.22983	0.078	B	0.18263	0.021	T	0.02431	-1.1160	10	0.42905	T	0.14	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	579	Q9HCJ2	LRC4C_HUMAN	K	579	ENSP00000278198:T579K;ENSP00000436976:T579K;ENSP00000437132:T579K;ENSP00000434761:T579K	ENSP00000278198:T579K	T	-	2	0	LRRC4C	40092683	1.000000	0.71417	0.969000	0.41365	0.990000	0.78478	6.593000	0.74100	2.941000	0.99782	0.655000	0.94253	ACA		0.448	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		31	73	1	0	1.56e-20	2.04e-20	31	73				
OR8J1	219477	broad.mit.edu	37	11	56128169	56128169	+	Silent	SNP	C	C	T	rs141638344		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:56128169C>T	ENST00000303039.3	+	1	479	c.447C>T	c.(445-447)taC>taT	p.Y149Y		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	149						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(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					CCCTCACATACCTCTATGGCT	0.433																																						uc010rjh.1		NA																	0				ovary(2)	2						c.(445-447)TAC>TAT		olfactory receptor, family 8, subfamily J,							111.0	106.0	108.0					11																	56128169		2201	4296	6497	SO:0001819	synonymous_variant	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56128169C>T	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.447C>T	11.37:g.56128169C>T							p.Y149Y	NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN			1	447	+	Esophageal squamous(21;0.00448)		149			Helical; Name=4; (Potential).		B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Silent	SNP	ENST00000303039.3	37	c.447C>T	CCDS31529.1																																																																																				0.433	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		28	45	0	0	0	0	28	45				
PC	5091	broad.mit.edu	37	11	66617739	66617739	+	Silent	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:66617739G>T	ENST00000393958.2	-	18	2763	c.2670C>A	c.(2668-2670)gtC>gtA	p.V890V	PC_ENST00000393955.2_Silent_p.V890V|PC_ENST00000529047.1_Silent_p.V10V|PC_ENST00000393960.1_Silent_p.V890V|PC_ENST00000528224.1_5'Flank	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	890					biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AGGCCTTCTTGACCTCCTTGA	0.597																																						uc001ojn.1		NA																	0				ovary(2)|lung(1)|kidney(1)	4						c.(2668-2670)GTC>GTA		pyruvate carboxylase precursor	Biotin(DB00121)|Pyruvic acid(DB00119)						89.0	82.0	85.0					11																	66617739		2200	4295	6495	SO:0001819	synonymous_variant	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66617739G>T	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.2670C>A	11.37:g.66617739G>T						PC_uc001ojo.1_Silent_p.V890V|PC_uc001ojp.1_Silent_p.V890V|PC_uc001ojm.1_5'Flank	p.V890V	NM_022172	NP_071504	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	17	2719	-		Melanoma(852;0.0525)	890					B4DN00|Q16705	Silent	SNP	ENST00000393958.2	37	c.2670C>A	CCDS8152.1																																																																																				0.597	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		8	36	1	0	2.18e-05	2.43e-05	8	36				
FOLH1B	219595	broad.mit.edu	37	11	89421766	89421766	+	RNA	SNP	G	G	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:89421766G>C	ENST00000532352.1	+	0	1436							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AGCAAATTGGGATCTGGAAAT	0.333																																						uc001pda.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(622-624)GGA>GCA		folate hydrolase 1B							30.0	36.0	34.0					11																	89421766		2181	4258	6439			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89421766G>C	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89421766G>C							p.G208A	NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN			10	1149	+			208						Missense_Mutation	SNP	ENST00000532352.1	37	c.623G>C																																																																																					0.333	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		24	52	0	0	0	0	24	52				
KBTBD3	143879	broad.mit.edu	37	11	105923992	105923992	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:105923992C>A	ENST00000526793.1	-	3	1583	c.1424G>T	c.(1423-1425)tGc>tTc	p.C475F	KBTBD3_ENST00000531837.1_Missense_Mutation_p.C475F|KBTBD3_ENST00000534815.1_Missense_Mutation_p.C396F	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	471										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TTTAAAAAAGCAATCAAGTGA	0.358																																						uc001pja.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1423-1425)TGC>TTC		BTB and kelch domain containing 3							59.0	57.0	58.0					11																	105923992		2201	4296	6497	SO:0001583	missense	143879							g.chr11:105923992C>A	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.1424G>T	11.37:g.105923992C>A	ENSP00000436262:p.Cys475Phe					KBTBD3_uc001pjb.2_Missense_Mutation_p.C475F|KBTBD3_uc009yxm.2_Missense_Mutation_p.C396F	p.C475F	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	4	2064	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	471			Kelch 4.		Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000526793.1	37	c.1424G>T	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407819	0.62399	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837	T;T;T	0.65916	-0.18;-0.18;-0.18	5.97	5.97	0.96955	Kelch-type beta propeller (1);	0.040721	0.85682	D	0.000000	T	0.63355	0.2504	L	0.27053	0.805	0.80722	D	1	D;D	0.56521	0.958;0.976	B;P	0.51016	0.321;0.656	T	0.65742	-0.6094	10	0.66056	D	0.02	.	20.4135	0.99023	0.0:1.0:0.0:0.0	.	475;471	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	F	396;475;475	ENSP00000431910:C396F;ENSP00000436262:C475F;ENSP00000432163:C475F	ENSP00000436262:C475F	C	-	2	0	KBTBD3	105429202	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.487000	0.81328	2.835000	0.97688	0.591000	0.81541	TGC		0.358	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433		12	28	1	0	5.51e-06	6.2e-06	12	28				
USP28	57646	broad.mit.edu	37	11	113711431	113711431	+	Silent	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:113711431G>A	ENST00000003302.4	-	5	491	c.423C>T	c.(421-423)cgC>cgT	p.R141R	USP28_ENST00000542033.1_5'UTR|USP28_ENST00000260188.5_Silent_p.R141R|USP28_ENST00000545540.1_Silent_p.R16R|USP28_ENST00000537706.1_Silent_p.R141R	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	141					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AGACTTCACAGCGTTTTCTCT	0.428																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	uc001poh.2		NA																	0				lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7						c.(421-423)CGC>CGT		ubiquitin specific protease 28							126.0	107.0	113.0					11																	113711431		2201	4296	6497	SO:0001819	synonymous_variant	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113711431G>A	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.423C>T	11.37:g.113711431G>A						USP28_uc010rwy.1_Silent_p.R16R|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Silent_p.R141R|USP28_uc010rwz.1_Silent_p.R141R	p.R141R	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	5	456	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	141					B0YJC0|B0YJC1|Q9P213	Silent	SNP	ENST00000003302.4	37	c.423C>T	CCDS31680.1																																																																																				0.428	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			17	36	0	0	0	0	17	36				
CEP164	22897	broad.mit.edu	37	11	117280412	117280412	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:117280412G>T	ENST00000278935.3	+	30	3974	c.3827G>T	c.(3826-3828)aGc>aTc	p.S1276I	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1276					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGCCAGCTGAGCAGTGTCCTC	0.642																																						uc001prc.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(3826-3828)AGC>ATC		centrosomal protein 164kDa							104.0	113.0	110.0					11																	117280412		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117280412G>T	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.3827G>T	11.37:g.117280412G>T	ENSP00000278935:p.Ser1276Ile					CEP164_uc001prb.2_Missense_Mutation_p.S1271I|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Missense_Mutation_p.S701I	p.S1276I	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	30	3974	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	1276					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.3827G>T	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038817	0.35989	.	.	ENSG00000110274	ENST00000278935	T	0.24151	1.87	4.33	3.2	0.36748	.	0.256554	0.27388	N	0.019596	T	0.14743	0.0356	N	0.22421	0.69	0.09310	N	1	P;P	0.35982	0.531;0.531	B;B	0.31245	0.126;0.126	T	0.13522	-1.0506	10	0.87932	D	0	-11.1494	7.7073	0.28657	0.8978:0.0:0.1022:0.0	.	1276;1271	Q9UPV0;Q9UPV0-2	CE164_HUMAN;.	I	1276	ENSP00000278935:S1276I	ENSP00000278935:S1276I	S	+	2	0	CEP164	116785622	0.039000	0.19947	0.014000	0.15608	0.104000	0.19210	1.648000	0.37271	0.645000	0.30675	-0.339000	0.08088	AGC		0.642	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		52	100	1	0	1.54e-34	2.05e-34	52	100				
SIAE	54414	broad.mit.edu	37	11	124519604	124519604	+	Silent	SNP	G	G	T	rs530808094	byFrequency	TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:124519604G>T	ENST00000263593.3	-	5	805	c.633C>A	c.(631-633)atC>atA	p.I211I	SIAE_ENST00000545756.1_Silent_p.I176I			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	211					carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		CGATCAGCCCGATGGGATACT	0.522																																						uc001qan.2		NA																	0					0						c.(631-633)ATC>ATA		sialate O-acetylesterase precursor							145.0	137.0	140.0					11																	124519604		2201	4299	6500	SO:0001819	synonymous_variant	54414					extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity	g.chr11:124519604G>T	AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"""sialic acid-specific acetylesterase II"""	610079	"""Ysg2 homolog (mouse)"""	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.633C>A	11.37:g.124519604G>T							p.I211I	NM_170601	NP_733746	Q9HAT2	SIAE_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)	5	746	-	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	211					B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Silent	SNP	ENST00000263593.3	37	c.633C>A	CCDS8449.1																																																																																				0.522	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387070.1	NM_170601		34	84	1	0	1.37e-20	1.8e-20	34	84				
FEZ1	9638	broad.mit.edu	37	11	125359582	125359582	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:125359582T>C	ENST00000278919.3	-	2	326	c.92A>G	c.(91-93)tAt>tGt	p.Y31C	FEZ1_ENST00000524435.1_Missense_Mutation_p.Y31C|FEZ1_ENST00000366139.3_Missense_Mutation_p.Y31C	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	31					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		AGATGAACCATAGAAACACTG	0.532																																					Melanoma(180;509 2033 10762 15939 24711)	uc001qbx.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(91-93)TAT>TGT		zygin 1 isoform 1							72.0	78.0	76.0					11																	125359582		2201	4299	6500	SO:0001583	missense	9638				axon guidance|cell adhesion|transport	microtubule|plasma membrane		g.chr11:125359582T>C	U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.92A>G	11.37:g.125359582T>C	ENSP00000278919:p.Tyr31Cys					FEZ1_uc010sbc.1_Missense_Mutation_p.Y31C|FEZ1_uc001qby.1_Missense_Mutation_p.Y31C	p.Y31C	NM_005103	NP_005094	Q99689	FEZ1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)	2	244	-	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	31					O00679|O00728|Q6IBI7	Missense_Mutation	SNP	ENST00000278919.3	37	c.92A>G	CCDS31716.1	.	.	.	.	.	.	.	.	.	.	T	19.20	3.782467	0.70222	.	.	ENSG00000149557	ENST00000278919;ENST00000529053;ENST00000366139;ENST00000524435;ENST00000527534	T	0.31247	1.5	5.76	4.56	0.56223	.	0.391256	0.29239	N	0.012739	T	0.26810	0.0656	N	0.19112	0.55	0.43183	D	0.995002	D;P	0.60575	0.988;0.947	P;B	0.50231	0.635;0.436	T	0.01805	-1.1270	10	0.40728	T	0.16	.	10.9498	0.47323	0.1402:0.0:0.0:0.8598	.	31;31	B4DKG5;Q99689	.;FEZ1_HUMAN	C	31	ENSP00000278919:Y31C	ENSP00000278919:Y31C	Y	-	2	0	FEZ1	124864792	1.000000	0.71417	0.629000	0.29254	0.643000	0.38383	3.659000	0.54489	2.198000	0.70561	0.528000	0.53228	TAT		0.532	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386875.1	NM_005103		23	71	0	0	0	0	23	71				
KCNJ5	3762	broad.mit.edu	37	11	128781856	128781856	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:128781856G>A	ENST00000338350.4	+	3	1040	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	KCNJ5_ENST00000529694.1_Missense_Mutation_p.V230M|KCNJ5_ENST00000533599.1_Missense_Mutation_p.V230M			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	230					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	CTCCCACATCGTGGAGGCCTC	0.592																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	uc001qet.2		NA																	0				skin(1)	1						c.(688-690)GTG>ATG		potassium inwardly-rectifying channel J5	Glibenclamide(DB01016)						83.0	86.0	85.0					11																	128781856		2201	4297	6498	SO:0001583	missense	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128781856G>A	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.688G>A	11.37:g.128781856G>A	ENSP00000339960:p.Val230Met					KCNJ5_uc009zck.2_Missense_Mutation_p.V230M|KCNJ5_uc001qew.2_Missense_Mutation_p.V230M	p.V230M	NM_000890	NP_000881	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	1002	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	230			Cytoplasmic (By similarity).		B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP	ENST00000338350.4	37	c.688G>A	CCDS8479.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459776	0.84317	.	.	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.95788	-3.81;-3.81;-3.81	5.46	5.46	0.80206	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98473	0.9491	H	0.94698	3.57	0.58432	D	0.999998	D	0.89917	1.0	D	0.76575	0.988	D	0.99433	1.0936	10	0.87932	D	0	.	19.3054	0.94161	0.0:0.0:1.0:0.0	.	230	P48544	IRK5_HUMAN	M	230	ENSP00000433295:V230M;ENSP00000339960:V230M;ENSP00000434266:V230M	ENSP00000339960:V230M	V	+	1	0	KCNJ5	128287066	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	9.869000	0.99810	2.556000	0.86216	0.561000	0.74099	GTG		0.592	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		16	65	0	0	0	0	16	65				
CRACR2A	84766	broad.mit.edu	37	12	3763444	3763444	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:3763444T>A	ENST00000252322.1	-	10	1448	c.980A>T	c.(979-981)cAg>cTg	p.Q327L	EFCAB4B_ENST00000444507.1_Missense_Mutation_p.Q327L|EFCAB4B_ENST00000440314.2_Missense_Mutation_p.Q327L	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		327					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CTGAGCATCCTGGAGCTCCCA	0.557																																						uc001qmj.2		NA																	0				ovary(1)|pancreas(1)	2						c.(979-981)CAG>CTG		EF-hand calcium binding domain 4B isoform c							74.0	70.0	71.0					12																	3763444		2203	4300	6503	SO:0001583	missense	84766				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding	g.chr12:3763444T>A																												ENST00000252322.1:c.980A>T	12.37:g.3763444T>A	ENSP00000252322:p.Gln327Leu					EFCAB4B_uc010sen.1_Missense_Mutation_p.Q327L|EFCAB4B_uc010seo.1_Missense_Mutation_p.Q327L|EFCAB4B_uc001qmi.1_RNA	p.Q327L	NM_032680	NP_116069	Q9BSW2	EFC4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)		10	1552	-			327			Potential.		B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000252322.1	37	c.980A>T	CCDS8522.1	.	.	.	.	.	.	.	.	.	.	T	2.107	-0.404749	0.04832	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.62232	0.04;2.48;2.49	4.27	1.84	0.25277	.	1.053770	0.07343	N	0.881106	T	0.52289	0.1725	L	0.50333	1.59	0.09310	N	1	B;B;B	0.23249	0.042;0.082;0.035	B;B;B	0.25140	0.015;0.058;0.018	T	0.46034	-0.9220	10	0.45353	T	0.12	-5.5809	1.4226	0.02315	0.1763:0.0996:0.1826:0.5415	.	327;327;327	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	L	327	ENSP00000409382:Q327L;ENSP00000412496:Q327L;ENSP00000252322:Q327L	ENSP00000252322:Q327L	Q	-	2	0	EFCAB4B	3633705	0.000000	0.05858	0.325000	0.25375	0.014000	0.08584	0.724000	0.25954	0.188000	0.20168	-0.464000	0.05259	CAG		0.557	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1			17	34	0	0	0	0	17	34				
LRP6	4040	broad.mit.edu	37	12	12337036	12337036	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:12337036G>A	ENST00000261349.4	-	5	930	c.854C>T	c.(853-855)cCa>cTa	p.P285L	LRP6_ENST00000543091.1_Missense_Mutation_p.P285L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	285	EGF-like 1.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AATTCCACATGGATTTGTGGC	0.393																																						uc001rah.3		NA																	0				lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12						c.(853-855)CCA>CTA		low density lipoprotein receptor-related protein							91.0	80.0	83.0					12																	12337036		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12337036G>A	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.854C>T	12.37:g.12337036G>A	ENSP00000261349:p.Pro285Leu					BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.P285L	p.P285L	NM_002336	NP_002327	O75581	LRP6_HUMAN			5	996	-		Prostate(47;0.0865)	285			Extracellular (Potential).|EGF-like 1.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.854C>T	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875267	0.51695	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.95447	-3.71;-3.71	5.71	4.82	0.62117	Six-bladed beta-propeller, TolB-like (1);Epidermal growth factor-like (1);	0.000000	0.64402	D	0.000009	D	0.95427	0.8515	M	0.74389	2.26	0.80722	D	1	D;B	0.56035	0.974;0.0	P;B	0.46585	0.521;0.001	D	0.95050	0.8186	10	0.56958	D	0.05	.	14.9119	0.70764	0.0688:0.0:0.9312:0.0	.	285;285	F5H7J9;O75581	.;LRP6_HUMAN	L	285	ENSP00000261349:P285L;ENSP00000442472:P285L	ENSP00000261349:P285L	P	-	2	0	LRP6	12228303	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.211000	0.65219	1.414000	0.47017	-0.137000	0.14449	CCA		0.393	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			10	38	0	0	0	0	10	38				
ARHGDIB	397	broad.mit.edu	37	12	15103494	15103494	+	Silent	SNP	C	C	A	rs200119691		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:15103494C>A	ENST00000228945.4	-	2	297	c.153G>T	c.(151-153)acG>acT	p.T51T	ARHGDIB_ENST00000539131.1_5'Flank|ARHGDIB_ENST00000541644.1_Silent_p.T51T|ARHGDIB_ENST00000541546.1_Silent_p.T51T	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	51					actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of cell adhesion (GO:0007162)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						CTCCCAGCAGCGTTTTCTTGT	0.483																																						uc001rcq.1		NA																	0					0						c.(151-153)ACG>ACT		Rho GDP dissociation inhibitor (GDI) beta							256.0	217.0	230.0					12																	15103494		2203	4300	6503	SO:0001819	synonymous_variant	397				actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity	g.chr12:15103494C>A	L07916	CCDS8671.1	12p12.3	2014-01-30				ENSG00000111348		"""Endogenous ligands"""	679	protein-coding gene	gene with protein product		602843		RAP1GN1, GDIA2, GDID4		8434008, 8356058	Standard	NM_001175		Approved	Ly-GDI, RhoGDI2	uc001rcq.1	P52566		ENST00000228945.4:c.153G>T	12.37:g.15103494C>A						ARHGDIB_uc001rcp.1_5'Flank	p.T51T	NM_001175	NP_001166	P52566	GDIR2_HUMAN			2	257	-			51					B5BU79	Silent	SNP	ENST00000228945.4	37	c.153G>T	CCDS8671.1	.	.	.	.	.	.	.	.	.	.	C	5.950	0.359263	0.11239	.	.	ENSG00000111348	ENST00000536592	.	.	.	5.19	-10.4	0.00318	.	.	.	.	.	T	0.44746	0.1308	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54622	-0.8266	4	.	.	.	-18.3814	7.2596	0.26195	0.0738:0.0847:0.2935:0.5479	.	.	.	.	S	46	.	.	A	-	1	0	ARHGDIB	14994761	0.022000	0.18835	0.215000	0.23724	0.770000	0.43624	-1.119000	0.03276	-2.679000	0.00409	-0.956000	0.02647	GCT		0.483	ARHGDIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400871.1	NM_001175		21	85	1	0	1.11e-09	1.34e-09	21	85				
MGST1	4257	broad.mit.edu	37	12	16516968	16516968	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:16516968A>G	ENST00000396209.1	+	4	604	c.461A>G	c.(460-462)tAc>tGc	p.Y154C	MGST1_ENST00000396210.3_Missense_Mutation_p.Y154C|MGST1_ENST00000010404.2_Missense_Mutation_p.Y154C|MGST1_ENST00000535309.1_Intron|MGST1_ENST00000540056.1_3'UTR|MGST1_ENST00000396207.1_Missense_Mutation_p.Y154C	NM_145791.2	NP_665734.1	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	154					cellular response to lipid hydroperoxide (GO:0071449)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|Leydig cell differentiation (GO:0033327)|oxidation-reduction process (GO:0055114)|protein homotrimerization (GO:0070207)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	apical part of cell (GO:0045177)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	glutathione binding (GO:0043295)|glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9		Hepatocellular(102;0.121)			Glutathione(DB00143)	AGTAAATTGTACCTGTAAAGA	0.358																																						uc001rdf.2		NA																	0					0						c.(460-462)TAC>TGC		microsomal glutathione S-transferase 1	Glutathione(DB00143)						94.0	89.0	91.0					12																	16516968		2203	4300	6503	SO:0001583	missense	4257				protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity	g.chr12:16516968A>G	U46494	CCDS8677.1, CCDS58209.1	12p12.3-p12.1	2012-06-21			ENSG00000008394	ENSG00000008394	2.5.1.18	"""Glutathione S-transferases / Microsomal"""	7061	protein-coding gene	gene with protein product		138330		GST12			Standard	NM_145792		Approved	MGST-I	uc031qgl.1	P10620	OTTHUMG00000168816	ENST00000396209.1:c.461A>G	12.37:g.16516968A>G	ENSP00000379512:p.Tyr154Cys					MGST1_uc001rdg.2_Missense_Mutation_p.Y154C|MGST1_uc009zih.1_Intron|MGST1_uc001rdh.2_Missense_Mutation_p.Y154C|MGST1_uc001rdi.2_Missense_Mutation_p.Y154C	p.Y154C	NM_145792	NP_665735	P10620	MGST1_HUMAN			4	526	+		Hepatocellular(102;0.121)	154			Lumenal (By similarity).		A8K533|G5EA53	Missense_Mutation	SNP	ENST00000396209.1	37	c.461A>G	CCDS8677.1	.	.	.	.	.	.	.	.	.	.	A	14.91	2.676362	0.47886	.	.	ENSG00000008394	ENST00000010404;ENST00000396210;ENST00000396209;ENST00000396207	.	.	.	5.33	5.33	0.75918	.	0.127660	0.53938	D	0.000049	T	0.64294	0.2585	M	0.64997	1.995	0.49213	D	0.999767	D	0.61080	0.989	P	0.52514	0.701	T	0.68300	-0.5445	9	0.66056	D	0.02	-20.9812	11.7957	0.52098	0.8689:0.0:0.0:0.1311	.	154	P10620	MGST1_HUMAN	C	154	.	ENSP00000010404:Y154C	Y	+	2	0	MGST1	16408235	1.000000	0.71417	0.944000	0.38274	0.563000	0.35712	3.751000	0.55165	2.240000	0.73641	0.533000	0.62120	TAC		0.358	MGST1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401189.1	NM_145791		14	29	0	0	0	0	14	29				
KCNH3	23416	broad.mit.edu	37	12	49943928	49943928	+	Silent	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:49943928G>A	ENST00000257981.6	+	10	1994	c.1734G>A	c.(1732-1734)ctG>ctA	p.L578L		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	578					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						AGGAGGTCCTGCAGCTGCCAC	0.701																																						uc001ruh.1		NA																	0					0						c.(1732-1734)CTG>CTA		potassium voltage-gated channel, subfamily H							24.0	26.0	25.0					12																	49943928		2203	4296	6499	SO:0001819	synonymous_variant	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49943928G>A	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.1734G>A	12.37:g.49943928G>A						KCNH3_uc010smj.1_Silent_p.L518L	p.L578L	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN			10	1994	+			578			Cytoplasmic (Potential).		Q9UQ06	Silent	SNP	ENST00000257981.6	37	c.1734G>A	CCDS8786.1																																																																																				0.701	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		13	23	0	0	0	0	13	23				
KRT77	374454	broad.mit.edu	37	12	53086203	53086203	+	Splice_Site	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:53086203A>G	ENST00000341809.3	-	7	1456		c.e7+1		KRT77_ENST00000537195.1_Splice_Site|RP11-641A6.3_ENST00000547533.1_RNA	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77							cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TGCCAGACCCACCTGCTCTCC	0.592																																						uc001saw.2		NA																	0				ovary(1)	1						c.e7+1		keratin 77							42.0	36.0	38.0					12																	53086203		2203	4298	6501	SO:0001630	splice_region_variant	374454					keratin filament	structural molecule activity	g.chr12:53086203A>G	BK000975	CCDS8837.1	12q13.13	2013-06-25	2006-07-17	2006-07-17	ENSG00000189182	ENSG00000189182		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20411	protein-coding gene	gene with protein product		611158	"""keratin 1B"""	KRT1B		11683385, 16831889	Standard	NM_175078		Approved		uc001saw.3	Q7Z794	OTTHUMG00000169450	ENST00000341809.3:c.1427+1T>C	12.37:g.53086203A>G						KRT77_uc009zmi.2_Splice_Site_p.R234_splice	p.R476_splice	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN			7	1456	-								Q7RTS8	Splice_Site	SNP	ENST00000341809.3	37	c.1427_splice	CCDS8837.1	.	.	.	.	.	.	.	.	.	.	A	10.53	1.375841	0.24857	.	.	ENSG00000189182	ENST00000341809;ENST00000537195	.	.	.	4.29	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7309	0.62787	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRT77	51372470	1.000000	0.71417	0.984000	0.44739	0.059000	0.15707	7.162000	0.77515	1.708000	0.51301	0.334000	0.21626	.		0.592	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404111.1	NM_175078	Intron	9	30	0	0	0	0	9	30				
ITGA7	3679	broad.mit.edu	37	12	56089326	56089326	+	Silent	SNP	C	C	T	rs200362287		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:56089326C>T	ENST00000555728.1	-	15	2143	c.2115G>A	c.(2113-2115)acG>acA	p.T705T	ITGA7_ENST00000452168.2_Silent_p.T568T|ITGA7_ENST00000257879.6_Silent_p.T661T|ITGA7_ENST00000394229.2_Silent_p.T661T|ITGA7_ENST00000257880.7_Silent_p.T705T|ITGA7_ENST00000553804.1_Silent_p.T665T|ITGA7_ENST00000394230.2_Silent_p.T665T|ITGA7_ENST00000347027.6_Silent_p.T655T			Q13683	ITA7_HUMAN	integrin, alpha 7	705					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GTTGGAATTCCGTGTCGCTGA	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		17493	0.001		0.0	False		,,,				2504	0.0					uc001shh.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1993-1995)ACG>ACA		integrin alpha 7 isoform 1 precursor							55.0	54.0	55.0					12																	56089326		2203	4300	6503	SO:0001819	synonymous_variant	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56089326C>T		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.2115G>A	12.37:g.56089326C>T						ITGA7_uc001shg.2_Silent_p.T661T|ITGA7_uc010sps.1_Silent_p.T568T|ITGA7_uc009znw.2_5'UTR|ITGA7_uc009znx.2_Silent_p.T542T	p.T665T	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN			14	2215	-			705			Extracellular (Potential).		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	ENST00000555728.1	37	c.1995G>A																																																																																					0.597	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		14	85	0	0	0	0	14	85				
TIMELESS	8914	broad.mit.edu	37	12	56827878	56827878	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:56827878T>A	ENST00000553532.1	-	2	227	c.77A>T	c.(76-78)cAt>cTt	p.H26L	TIMELESS_ENST00000554616.1_Missense_Mutation_p.H26L|TIMELESS_ENST00000229201.4_Missense_Mutation_p.H26L					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TGGTTCCTTATGGTAAGTGTC	0.438																																						uc001slf.2		NA																	0				ovary(5)|breast(2)|pancreas(1)	8						c.(76-78)CAT>CTT		timeless homolog							136.0	120.0	126.0					12																	56827878		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56827878T>A	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.77A>T	12.37:g.56827878T>A	ENSP00000450607:p.His26Leu					TIMELESS_uc001slg.2_Missense_Mutation_p.H26L	p.H26L	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN			2	245	-			26						Missense_Mutation	SNP	ENST00000553532.1	37	c.77A>T	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.546046	0.86022	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.45276	0.9;0.9;0.9	5.44	5.44	0.79542	Timeless protein (1);	0.000000	0.85682	D	0.000000	T	0.50922	0.1644	L	0.41961	1.31	0.80722	D	1	D;D	0.63880	0.991;0.993	P;P	0.58660	0.757;0.843	T	0.42498	-0.9448	10	0.32370	T	0.25	-23.455	14.7958	0.69876	0.0:0.0:0.0:1.0	.	26;26	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	L	26	ENSP00000229201:H26L;ENSP00000450607:H26L;ENSP00000450848:H26L	ENSP00000229201:H26L	H	-	2	0	TIMELESS	55114145	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.325000	0.79124	2.208000	0.71279	0.454000	0.30748	CAT		0.438	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		14	36	0	0	0	0	14	36				
SLC17A8	246213	broad.mit.edu	37	12	100774536	100774536	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:100774536G>T	ENST00000323346.5	+	2	472	c.159G>T	c.(157-159)agG>agT	p.R53S	SLC17A8_ENST00000392989.3_Missense_Mutation_p.R53S	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	53					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						AAGAAGGAAGGCCGGTGCAGA	0.502																																						uc010svi.1		NA																	0				ovary(3)	3						c.(157-159)AGG>AGT		solute carrier family 17 (sodium-dependent							130.0	132.0	131.0					12																	100774536		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100774536G>T	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.159G>T	12.37:g.100774536G>T	ENSP00000316909:p.Arg53Ser					SLC17A8_uc009ztx.2_Missense_Mutation_p.R53S	p.R53S	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN			2	472	+			53			Cytoplasmic (Potential).		B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.159G>T	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	G	9.054	0.992763	0.18966	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.69685	-0.06;-0.42	5.35	5.35	0.76521	Major facilitator superfamily domain, general substrate transporter (1);	0.050999	0.85682	D	0.000000	T	0.68559	0.3014	M	0.65975	2.015	0.48632	D	0.999681	B;P	0.44521	0.014;0.837	B;P	0.47941	0.017;0.562	T	0.68409	-0.5416	10	0.38643	T	0.18	.	9.7141	0.40263	0.1532:0.0:0.8468:0.0	.	53;53	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	S	53	ENSP00000316909:R53S;ENSP00000376715:R53S	ENSP00000316909:R53S	R	+	3	2	SLC17A8	99298667	1.000000	0.71417	0.821000	0.32701	0.010000	0.07245	1.333000	0.33816	2.509000	0.84616	0.650000	0.86243	AGG		0.502	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		17	128	1	0	2.94e-08	3.44e-08	17	128				
ASCL1	429	broad.mit.edu	37	12	103352676	103352676	+	Silent	SNP	T	T	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:103352676T>C	ENST00000266744.3	+	1	1213	c.654T>C	c.(652-654)tcT>tcC	p.S218S		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	218					adrenal chromaffin cell differentiation (GO:0061104)|carotid body glomus cell differentiation (GO:0061103)|cell maturation (GO:0048469)|cellular response to magnetism (GO:0071259)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|lung epithelial cell differentiation (GO:0060487)|lung neuroendocrine cell differentiation (GO:0061100)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroblast fate determination (GO:0007400)|neuroblast proliferation (GO:0007405)|neurogenesis (GO:0022008)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron fate commitment (GO:0003359)|Notch signaling pathway (GO:0007219)|olfactory pit development (GO:0060166)|oligodendrocyte development (GO:0014003)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial cell differentiation (GO:0030856)|regulation of gene expression (GO:0010468)|regulation of mitotic cell cycle (GO:0007346)|regulation of timing of subpallium neuron differentiation (GO:0060165)|response to epidermal growth factor (GO:0070849)|response to folic acid (GO:0051593)|response to lithium ion (GO:0010226)|response to retinoic acid (GO:0032526)|spinal cord association neuron differentiation (GO:0021527)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|stomach neuroendocrine cell differentiation (GO:0061102)|subpallium neuron fate commitment (GO:0060163)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)|vestibular nucleus development (GO:0021750)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			NS(3)|large_intestine(1)|lung(1)	5						ACGAGGGCTCTTACGACCCGC	0.627																																						uc001tjr.3		NA																	0					0						c.(652-654)TCT>TCC		achaete-scute complex homolog 1							27.0	28.0	28.0					12																	103352676		2199	4292	6491	SO:0001819	synonymous_variant	429				cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity	g.chr12:103352676T>C	L08424	CCDS31886.1	12q22-q23	2013-10-17	2013-10-17			ENSG00000139352		"""Basic helix-loop-helix proteins"""	738	protein-coding gene	gene with protein product		100790	"""achaete-scute complex (Drosophila) homolog-like 1"", ""achaete-scute complex-like 1 (Drosophila)"", ""achaete-scute complex homolog 1 (Drosophila)"""			8390674	Standard	NM_004316		Approved	ASH1, HASH1, bHLHa46	uc001tjr.4	P50553		ENST00000266744.3:c.654T>C	12.37:g.103352676T>C							p.S218S	NM_004316	NP_004307	P50553	ASCL1_HUMAN			1	1225	+			218					A8K3C4|Q9BQ30	Silent	SNP	ENST00000266744.3	37	c.654T>C	CCDS31886.1																																																																																				0.627	ASCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406707.1			13	36	0	0	0	0	13	36				
TRPV4	59341	broad.mit.edu	37	12	110246113	110246113	+	Nonsense_Mutation	SNP	C	C	A	rs387906324		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:110246113C>A	ENST00000418703.2	-	2	641	c.547G>T	c.(547-549)Gag>Tag	p.E183*	TRPV4_ENST00000541794.1_Nonsense_Mutation_p.E183*|TRPV4_ENST00000392719.2_Nonsense_Mutation_p.E183*|TRPV4_ENST00000261740.2_Nonsense_Mutation_p.E183*|TRPV4_ENST00000537083.1_Nonsense_Mutation_p.E183*|TRPV4_ENST00000536838.1_Nonsense_Mutation_p.E149*|TRPV4_ENST00000346520.2_Nonsense_Mutation_p.E183*|TRPV4_ENST00000544971.1_Nonsense_Mutation_p.E183*	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	183			E -> K (found in a patient with spondyloepiphyseal dysplasia Maroteaux type). {ECO:0000269|PubMed:20503319}.		actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CGAAACTCCTCATCAGTTAGG	0.612																																						uc001tpj.1		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(547-549)GAG>TAG		transient receptor potential cation channel,							78.0	64.0	68.0					12																	110246113		2203	4300	6503	SO:0001587	stop_gained	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110246113C>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.547G>T	12.37:g.110246113C>A	ENSP00000406191:p.Glu183*					TRPV4_uc001tpg.1_Nonsense_Mutation_p.E149*|TRPV4_uc001tph.1_Nonsense_Mutation_p.E183*|TRPV4_uc001tpi.1_Nonsense_Mutation_p.E183*|TRPV4_uc001tpk.1_Nonsense_Mutation_p.E183*|TRPV4_uc001tpl.1_Nonsense_Mutation_p.E183*	p.E183*	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN			2	642	-			183		E -> K (found in a patient with spondyloepiphyseal dysplasia Maroteaux type).	Cytoplasmic (Potential).		B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Nonsense_Mutation	SNP	ENST00000418703.2	37	c.547G>T	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	c	36	5.951484	0.97139	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	.	.	.	3.69	3.69	0.42338	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-10.463	14.4177	0.67163	0.0:1.0:0.0:0.0	.	.	.	.	X	183;183;183;183;183;183;183;149	.	ENSP00000261740:E183X	E	-	1	0	TRPV4	108730496	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	5.587000	0.67510	1.785000	0.52413	0.466000	0.42574	GAG		0.612	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		6	24	1	0	2.01e-06	2.28e-06	6	24				
MRPL52	122704	broad.mit.edu	37	14	23299461	23299461	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr14:23299461C>T	ENST00000355151.5	+	3	185	c.155C>T	c.(154-156)gCg>gTg	p.A52V	MRPL52_ENST00000557221.1_Missense_Mutation_p.R2W|MRPL52_ENST00000555536.1_5'UTR|MRPL52_ENST00000553711.1_5'UTR|MRPL52_ENST00000397496.3_Missense_Mutation_p.A51V|MRPL52_ENST00000461594.1_3'UTR|MRPL52_ENST00000555345.1_5'UTR|MRPL52_ENST00000397505.2_Missense_Mutation_p.A52V|MRPL52_ENST00000311892.6_5'UTR|MRPL52_ENST00000432849.3_Missense_Mutation_p.A51V|MRPL52_ENST00000556840.1_5'UTR	NM_178336.2|NM_180982.2|NM_181306.2	NP_848026.1|NP_851313.1|NP_851823.1	Q86TS9	RM52_HUMAN	mitochondrial ribosomal protein L52	52					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	structural constituent of ribosome (GO:0003735)					all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		TGGTCATATGCGGGTAAGCGC	0.602																																						uc001wgw.3		NA																	0					0						c.(154-156)GCG>GTG		mitochondrial ribosomal protein L52 isoform a							52.0	62.0	58.0					14																	23299461		2203	4300	6503	SO:0001583	missense	122704				translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr14:23299461C>T	AK000450	CCDS9575.1, CCDS9576.1, CCDS41917.1, CCDS41918.1	14q11.2	2012-09-13			ENSG00000172590	ENSG00000172590		"""Mitochondrial ribosomal proteins / large subunits"""	16655	protein-coding gene	gene with protein product		611856				11551941, 11943462	Standard	NM_178336		Approved		uc001wgw.4	Q86TS9	OTTHUMG00000028703	ENST00000355151.5:c.155C>T	14.37:g.23299461C>T	ENSP00000347277:p.Ala52Val					MRPL52_uc001wgx.3_Missense_Mutation_p.A51V|MRPL52_uc001wgy.3_5'UTR|MRPL52_uc001wgz.3_5'UTR|MRPL52_uc001wha.3_5'UTR|MRPL52_uc001whb.3_Missense_Mutation_p.A52V	p.A52V	NM_178336	NP_848026	Q86TS9	RM52_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	3	185	+	all_cancers(95;9.47e-05)		52					A6NMQ8|A8MXK5|A8MYI6|G3XCN9|Q6NVH8	Missense_Mutation	SNP	ENST00000355151.5	37	c.155C>T	CCDS41917.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.68|18.68	3.675720|3.675720	0.67928|0.67928	.|.	.|.	ENSG00000172590|ENSG00000172590	ENST00000355151;ENST00000397496;ENST00000432849;ENST00000556465;ENST00000397505|ENST00000557221	T;T;T;T;T|T	0.25414|0.44881	1.8;1.8;1.8;1.8;1.8|0.91	5.29|5.29	4.4|4.4	0.53042|0.53042	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.42381|0.42381	0.1200|0.1200	L|L	0.42487|0.42487	1.325|1.325	0.80722|0.80722	D|D	1|1	B;D;P|.	0.67145|.	0.35;0.996;0.927|.	B;P;B|.	0.55508|.	0.067;0.777;0.279|.	T|T	0.21552|0.21552	-1.0242|-1.0242	10|6	0.48119|.	T|.	0.1|.	-13.6382|-13.6382	9.7828|9.7828	0.40658|0.40658	0.0:0.9078:0.0:0.0922|0.0:0.9078:0.0:0.0922	.|.	52;51;52|.	A8MXK5;G3XCN9;Q86TS9|.	.;.;RM52_HUMAN|.	V|W	52;51;51;51;52|2	ENSP00000347277:A52V;ENSP00000380633:A51V;ENSP00000406655:A51V;ENSP00000451832:A51V;ENSP00000380642:A52V|ENSP00000451436:R2W	ENSP00000310762:A52V|.	A|R	+|+	2|1	0|2	MRPL52|MRPL52	22369301|22369301	0.991000|0.991000	0.36638|0.36638	0.686000|0.686000	0.30086|0.30086	0.015000|0.015000	0.08874|0.08874	2.047000|2.047000	0.41269|0.41269	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	GCG|CGG		0.602	MRPL52-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071657.4	NM_180982		5	98	0	0	0	0	5	98				
DACT1	51339	broad.mit.edu	37	14	59112773	59112773	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr14:59112773A>G	ENST00000335867.4	+	4	1456	c.1432A>G	c.(1432-1434)Agc>Ggc	p.S478G	DACT1_ENST00000556859.1_Missense_Mutation_p.S197G|DACT1_ENST00000395153.3_Missense_Mutation_p.S441G|DACT1_ENST00000541264.2_Missense_Mutation_p.S197G			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	478					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCCTAAGGAAAGCGCTCAGCT	0.577																																						uc001xdw.2		NA																	0				large_intestine(2)|lung(2)|ovary(1)	5						c.(1432-1434)AGC>GGC		dapper 1 isoform 1							54.0	64.0	61.0					14																	59112773		2203	4300	6503	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59112773A>G	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1432A>G	14.37:g.59112773A>G	ENSP00000337439:p.Ser478Gly					DACT1_uc010trv.1_Missense_Mutation_p.S197G|DACT1_uc001xdx.2_Missense_Mutation_p.S441G|DACT1_uc010trw.1_Missense_Mutation_p.S197G	p.S478G	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN			4	1596	+			478					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.1432A>G	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	A	1.928	-0.446753	0.04572	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.35	1.71	0.24356	.	0.502098	0.21976	N	0.066373	T	0.31104	0.0786	N	0.21583	0.68	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.11329	0.006;0.002	T	0.18587	-1.0332	10	0.44086	T	0.13	-2.8118	9.4597	0.38776	0.7197:0.0:0.2803:0.0	.	441;478	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	G	197;197;441;478;197	ENSP00000451598:S197G;ENSP00000378581:S197G;ENSP00000378582:S441G;ENSP00000337439:S478G;ENSP00000442850:S197G	ENSP00000337439:S478G	S	+	1	0	DACT1	58182526	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	1.034000	0.30204	0.056000	0.16144	0.460000	0.39030	AGC		0.577	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		100	47	0	0	0	0	100	47				
NPAP1	23742	broad.mit.edu	37	15	24921169	24921169	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr15:24921169G>T	ENST00000329468.2	+	1	629	c.155G>T	c.(154-156)cGc>cTc	p.R52L		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	52					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GGCCTGTTCCGCCGGAACGCC	0.756																																						uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(154-156)CGC>CTC		hypothetical protein LOC23742							13.0	17.0	16.0					15																	24921169		2166	4215	6381	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921169G>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.155G>T	15.37:g.24921169G>T	ENSP00000333735:p.Arg52Leu						p.R52L	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	629	+		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)	52						Missense_Mutation	SNP	ENST00000329468.2	37	c.155G>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	13.57	2.275615	0.40294	.	.	ENSG00000185823	ENST00000329468	T	0.08546	3.08	1.98	-0.558	0.11796	.	2.445120	0.02107	N	0.054426	T	0.05044	0.0135	N	0.22421	0.69	0.09310	N	1	P	0.46327	0.876	B	0.33295	0.161	T	0.31806	-0.9930	10	0.44086	T	0.13	.	4.3569	0.11183	0.5308:0.0:0.4692:0.0	.	52	Q9NZP6	CO002_HUMAN	L	52	ENSP00000333735:R52L	ENSP00000333735:R52L	R	+	2	0	C15orf2	22472262	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	0.047000	0.14056	-0.113000	0.11958	0.484000	0.47621	CGC		0.756	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		6	21	1	0	0.00198382	0.00210348	6	21				
RYR3	6263	broad.mit.edu	37	15	33895352	33895352	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr15:33895352G>A	ENST00000389232.4	+	18	2021	c.1951G>A	c.(1951-1953)Gcg>Acg	p.A651T	RYR3_ENST00000415757.3_Missense_Mutation_p.A651T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	651	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTGGGAGTCGCGGAGGGCTC	0.527																																						uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(1951-1953)GCG>ACG		ryanodine receptor 3							87.0	93.0	91.0					15																	33895352		2017	4173	6190	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33895352G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1951G>A	15.37:g.33895352G>A	ENSP00000373884:p.Ala651Thr					RYR3_uc010bar.2_Missense_Mutation_p.A651T	p.A651T	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	18	2021	+		all_lung(180;7.18e-09)	651			Cytoplasmic (By similarity).|B30.2/SPRY 1.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.1951G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.037713	0.54896	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96587	-4.06;-4.06	5.46	5.46	0.80206	B30.2/SPRY domain (1);	0.298104	0.32343	N	0.006234	D	0.92782	0.7705	L	0.47716	1.5	0.33544	D	0.595201	P;P	0.47841	0.901;0.84	B;B	0.34418	0.182;0.089	D	0.95362	0.8456	10	0.49607	T	0.09	.	14.4052	0.67079	0.0:0.0:0.8526:0.1474	.	651;651	Q15413-2;Q15413	.;RYR3_HUMAN	T	651	ENSP00000373884:A651T;ENSP00000399610:A651T	ENSP00000354735:A651T	A	+	1	0	RYR3	31682644	0.996000	0.38824	0.983000	0.44433	0.910000	0.53928	2.532000	0.45659	2.846000	0.97976	0.644000	0.83932	GCG		0.527	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			19	105	0	0	0	0	19	105				
UNC13C	440279	broad.mit.edu	37	15	54786889	54786889	+	Missense_Mutation	SNP	C	C	T	rs202235638	byFrequency	TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr15:54786889C>T	ENST00000260323.11	+	19	5017	c.5017C>T	c.(5017-5019)Cgt>Tgt	p.R1673C	UNC13C_ENST00000545554.1_Missense_Mutation_p.R1673C|UNC13C_ENST00000537900.1_Missense_Mutation_p.R1671C	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1673	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGAATATGTGCGTGAACTTCC	0.338													C|||	4	0.000798722	0.003	0.0	5008	,	,		16756	0.0		0.0	False		,,,				2504	0.0					uc002ack.2		NA																	0				ovary(5)|pancreas(2)	7						c.(5017-5019)CGT>TGT		unc-13 homolog C		C	CYS/ARG	5,3695		0,5,1845	158.0	153.0	155.0		5017	3.9	1.0	15		155	0,8186		0,0,4093	yes	missense	UNC13C	NM_001080534.1	180	0,5,5938	TT,TC,CC		0.0,0.1351,0.0421	benign	1673/2215	54786889	5,11881	1850	4093	5943	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54786889C>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5017C>T	15.37:g.54786889C>T	ENSP00000260323:p.Arg1673Cys						p.R1673C	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	18	5017	+			1673			MHD1.		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.5017C>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261348	0.39995	0.001351	0.0	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.80123	-1.34;-1.34;-1.34	5.87	3.94	0.45596	Munc13 homology 1 (1);	0.134612	0.50627	D	0.000110	T	0.82010	0.4944	L	0.34521	1.04	0.54753	D	0.999987	D	0.89917	1.0	P	0.60609	0.877	T	0.82546	-0.0403	10	0.56958	D	0.05	.	13.5076	0.61493	0.41:0.59:0.0:0.0	.	1673	Q8NB66	UN13C_HUMAN	C	1673;1673;1671	ENSP00000260323:R1673C;ENSP00000438156:R1673C;ENSP00000442569:R1671C	ENSP00000260323:R1673C	R	+	1	0	UNC13C	52574181	0.664000	0.27457	0.997000	0.53966	0.888000	0.51559	0.479000	0.22228	0.884000	0.36064	-0.181000	0.13052	CGT		0.338	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		6	104	0	0	0	0	6	104				
ALPK3	57538	broad.mit.edu	37	15	85405961	85405961	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr15:85405961G>A	ENST00000258888.5	+	10	4998	c.4831G>A	c.(4831-4833)Gag>Aag	p.E1611K		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1611	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACTGGTAAGCGAGGAGCTCCG	0.597																																						uc002ble.2		NA																	0				stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(4831-4833)GAG>AAG		alpha-kinase 3							59.0	58.0	59.0					15																	85405961		2203	4299	6502	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85405961G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4831G>A	15.37:g.85405961G>A	ENSP00000258888:p.Glu1611Lys					ALPK3_uc010upc.1_5'Flank	p.E1611K	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		10	4998	+			1611			Alpha-type protein kinase.		Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.4831G>A	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742624	0.89573	.	.	ENSG00000136383	ENST00000258888	T	0.06294	3.32	4.97	4.06	0.47325	MHCK/EF2 kinase (1);Protein kinase-like domain (1);	0.061193	0.64402	D	0.000005	T	0.08447	0.0210	L	0.55990	1.75	0.43907	D	0.996547	P	0.49783	0.928	B	0.41813	0.367	T	0.07578	-1.0765	10	0.72032	D	0.01	-31.8656	10.7849	0.46398	0.0912:0.0:0.9088:0.0	.	1611	Q96L96	ALPK3_HUMAN	K	1611	ENSP00000258888:E1611K	ENSP00000258888:E1611K	E	+	1	0	ALPK3	83206965	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.084000	0.64462	1.320000	0.45209	0.655000	0.94253	GAG		0.597	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		18	20	0	0	0	0	18	20				
GRIN2A	2903	broad.mit.edu	37	16	9857484	9857484	+	Missense_Mutation	SNP	C	C	A	rs368627311		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr16:9857484C>A	ENST00000396573.2	-	14	4226	c.3917G>T	c.(3916-3918)aGg>aTg	p.R1306M	GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1306M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1306M|GRIN2A_ENST00000535259.1_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1306					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCGGGAGGGCCTGCTAAGGTC	0.493																																						uc002czo.3		NA																	0				skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(3916-3918)AGG>ATG		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						124.0	114.0	117.0					16																	9857484		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857484C>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3917G>T	16.37:g.9857484C>A	ENSP00000379818:p.Arg1306Met					GRIN2A_uc010uym.1_Missense_Mutation_p.R1306M|GRIN2A_uc010uyn.1_Intron|GRIN2A_uc002czr.3_Intron	p.R1306M	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			13	4465	-			1306			Cytoplasmic (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3917G>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808810	0.50421	.	.	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	T;T;T	0.12569	2.67;2.67;2.67	5.77	2.75	0.32379	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.182926	0.56097	D	0.000027	T	0.27900	0.0687	M	0.63428	1.95	0.80722	D	1	D	0.67145	0.996	P	0.62649	0.905	T	0.01108	-1.1449	9	.	.	.	.	10.574	0.45217	0.0:0.7889:0.0:0.2111	.	1306	Q12879	NMDE1_HUMAN	M	1306	ENSP00000379818:R1306M;ENSP00000332549:R1306M;ENSP00000379820:R1306M	.	R	-	2	0	GRIN2A	9764985	1.000000	0.71417	0.994000	0.49952	0.922000	0.55478	2.466000	0.45084	0.801000	0.34066	0.650000	0.86243	AGG		0.493	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			39	101	1	0	6.24e-21	8.23e-21	39	101				
NLRC5	84166	broad.mit.edu	37	16	57111883	57111883	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr16:57111883A>T	ENST00000262510.6	+	43	5257	c.5032A>T	c.(5032-5034)Aca>Tca	p.T1678S	NLRC5_ENST00000308149.7_Missense_Mutation_p.T1649S|NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Missense_Mutation_p.T1649S	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1678					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GGGGGATCCCACAGCCCTGGG	0.672																																						uc002ekk.1		NA																	0				ovary(4)|skin(2)|breast(1)	7						c.(5032-5034)ACA>TCA		nucleotide-binding oligomerization domains 27							37.0	36.0	36.0					16																	57111883		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57111883A>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.5032A>T	16.37:g.57111883A>T	ENSP00000262510:p.Thr1678Ser					NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekq.1_Missense_Mutation_p.T220S|NLRC5_uc002ekr.1_Missense_Mutation_p.T565S	p.T1678S	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN			43	5257	+		all_neural(199;0.225)	1678			LRR 22.		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.5032A>T	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.414726	0.42817	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000539144	T;T;T	0.49720	0.77;0.77;0.77	4.85	3.73	0.42828	.	0.000000	0.35585	N	0.003109	T	0.46946	0.1419	L	0.42529	1.33	0.09310	N	0.99999	P	0.41597	0.756	P	0.51016	0.656	T	0.26503	-1.0101	10	0.34782	T	0.22	.	7.3845	0.26874	0.8988:0.0:0.1012:0.0	.	1678	Q86WI3	NLRC5_HUMAN	S	1678;1649;1649	ENSP00000262510:T1678S;ENSP00000308886:T1649S;ENSP00000441727:T1649S	ENSP00000262510:T1678S	T	+	1	0	NLRC5	55669384	0.900000	0.30661	0.240000	0.24138	0.623000	0.37688	2.711000	0.47177	2.034000	0.60081	0.460000	0.39030	ACA		0.672	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		7	30	0	0	0	0	7	30				
CDH3	1001	broad.mit.edu	37	16	68716358	68716358	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr16:68716358G>T	ENST00000264012.4	+	9	1694	c.1150G>T	c.(1150-1152)Gag>Tag	p.E384*	CDH3_ENST00000429102.2_Nonsense_Mutation_p.E384*|CDH3_ENST00000581171.1_Nonsense_Mutation_p.E329*	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	384	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CACCCACCCTGAGAGCAACCA	0.592																																						uc002ewf.2		NA																	2	Unknown(2)	p.?(1)	breast(2)	ovary(3)|breast(1)|skin(1)	5						c.(1150-1152)GAG>TAG		cadherin 3, type 1 preproprotein							99.0	80.0	86.0					16																	68716358		2198	4300	6498	SO:0001587	stop_gained	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68716358G>T	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1150G>T	16.37:g.68716358G>T	ENSP00000264012:p.Glu384*					CDH3_uc010vli.1_Nonsense_Mutation_p.E329*	p.E384*	NM_001793	NP_001784	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	9	2282	+		Ovarian(137;0.0564)	384			Extracellular (Potential).|Cadherin 3.		B2R6F4|Q05DI6	Nonsense_Mutation	SNP	ENST00000264012.4	37	c.1150G>T	CCDS10868.1	.	.	.	.	.	.	.	.	.	.	G	38	7.187122	0.98121	.	.	ENSG00000062038	ENST00000429102;ENST00000264012;ENST00000542274	.	.	.	5.56	4.6	0.57074	.	0.000000	0.42053	D	0.000776	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	11.4463	0.50125	0.0861:0.0:0.9139:0.0	.	.	.	.	X	384;384;329	.	ENSP00000264012:E384X	E	+	1	0	CDH3	67273859	0.861000	0.29849	0.996000	0.52242	0.845000	0.48019	2.188000	0.42612	2.614000	0.88457	0.561000	0.74099	GAG		0.592	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		19	52	1	0	3.62e-10	4.42e-10	19	52				
ATP2C2	9914	broad.mit.edu	37	16	84438840	84438840	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr16:84438840A>G	ENST00000262429.4	+	3	406	c.317A>G	c.(316-318)tAc>tGc	p.Y106C	ATP2C2_ENST00000416219.2_Missense_Mutation_p.Y106C	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	106					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TGGAAGAAATACCTGGATCAG	0.527																																						uc002fhx.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(316-318)TAC>TGC		ATPase, Ca++ transporting, type 2C, member 2							61.0	66.0	64.0					16																	84438840		2054	4208	6262	SO:0001583	missense	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84438840A>G	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.317A>G	16.37:g.84438840A>G	ENSP00000262429:p.Tyr106Cys					ATP2C2_uc010chj.2_Missense_Mutation_p.Y106C|ATP2C2_uc002fhy.2_Missense_Mutation_p.Y123C|ATP2C2_uc002fhz.2_5'Flank	p.Y106C	NM_014861	NP_055676	O75185	AT2C2_HUMAN			3	406	+			106			Cytoplasmic (Potential).		B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	c.317A>G	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	A	18.87	3.715737	0.68844	.	.	ENSG00000064270	ENST00000416219;ENST00000262429	T;T	0.79352	-1.26;-1.26	5.1	5.1	0.69264	ATPase, P-type cation-transporter, N-terminal (2);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.187213	0.37577	N	0.002029	D	0.88370	0.6418	M	0.85710	2.77	0.52501	D	0.999956	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.986;0.988	D	0.90147	0.4218	10	0.87932	D	0	.	13.1101	0.59268	1.0:0.0:0.0:0.0	.	106;123;106	E7ES94;O75185-2;O75185	.;.;AT2C2_HUMAN	C	106	ENSP00000397925:Y106C;ENSP00000262429:Y106C	ENSP00000262429:Y106C	Y	+	2	0	ATP2C2	82996341	1.000000	0.71417	0.991000	0.47740	0.888000	0.51559	7.001000	0.76297	2.041000	0.60428	0.482000	0.46254	TAC		0.527	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		6	28	0	0	0	0	6	28				
MYH3	4621	broad.mit.edu	37	17	10555773	10555773	+	Silent	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr17:10555773G>A	ENST00000583535.1	-	4	399	c.312C>T	c.(310-312)taC>taT	p.Y104Y	MYH3_ENST00000226209.7_Silent_p.Y104Y	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	104	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CCTTCAGGTTGTACAGCACGG	0.557																																						uc002gmq.1		NA																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(310-312)TAC>TAT		myosin, heavy chain 3, skeletal muscle,							156.0	131.0	140.0					17																	10555773		2203	4300	6503	SO:0001819	synonymous_variant	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10555773G>A		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.312C>T	17.37:g.10555773G>A							p.Y104Y	NM_002470	NP_002461	P11055	MYH3_HUMAN			3	389	-			104			Myosin head-like.		Q15492	Silent	SNP	ENST00000583535.1	37	c.312C>T	CCDS11157.1																																																																																				0.557	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		28	23	0	0	0	0	28	23				
ITGA2B	3674	broad.mit.edu	37	17	42458334	42458334	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr17:42458334G>T	ENST00000262407.5	-	13	1337	c.1306C>A	c.(1306-1308)Cag>Aag	p.Q436K	ITGA2B_ENST00000353281.4_Missense_Mutation_p.Q436K|ITGA2B_ENST00000377068.3_Missense_Mutation_p.Q121K	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	436					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	TCCAGGACCTGGGAGGGACGT	0.642																																						uc002igt.1		NA																	0				ovary(2)|lung(1)	3						c.(1306-1308)CAG>AAG		integrin alpha 2b preproprotein	Tirofiban(DB00775)						86.0	79.0	82.0					17																	42458334		2203	4300	6503	SO:0001583	missense	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42458334G>T		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1306C>A	17.37:g.42458334G>T	ENSP00000262407:p.Gln436Lys					ITGA2B_uc002igu.1_5'UTR	p.Q436K	NM_000419	NP_000410	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	13	1338	-		Prostate(33;0.0181)	436			Extracellular (Potential).|FG-GAP 7.		B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	c.1306C>A	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	G	35	5.461075	0.96240	.	.	ENSG00000005961	ENST00000262407;ENST00000353281;ENST00000377068	T;T;T	0.73789	-0.78;-0.78;-0.78	5.49	5.49	0.81192	.	0.000000	0.33496	N	0.004843	D	0.88727	0.6515	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.89939	0.4071	10	0.72032	D	0.01	.	18.3158	0.90220	0.0:0.0:1.0:0.0	.	436	P08514	ITA2B_HUMAN	K	436;436;121	ENSP00000262407:Q436K;ENSP00000340536:Q436K;ENSP00000366268:Q121K	ENSP00000262407:Q436K	Q	-	1	0	ITGA2B	39813860	0.994000	0.37717	1.000000	0.80357	0.958000	0.62258	2.232000	0.43018	2.865000	0.98341	0.655000	0.94253	CAG		0.642	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			30	66	1	0	3e-07	3.46e-07	30	66				
KIF2B	84643	broad.mit.edu	37	17	51901024	51901024	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr17:51901024A>T	ENST00000268919.4	+	1	786	c.630A>T	c.(628-630)caA>caT	p.Q210H		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	210					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGCCCCCGCAAGAACATCGCA	0.537																																						uc002iua.2		NA																	0				ovary(5)|skin(3)	8						c.(628-630)CAA>CAT		kinesin family member 2B							75.0	64.0	68.0					17																	51901024		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901024A>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.630A>T	17.37:g.51901024A>T	ENSP00000268919:p.Gln210His					uc010wna.1_RNA	p.Q210H	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	786	+			210			Kinesin-motor.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.630A>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	A	14.13	2.443825	0.43429	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.17054	2.3	5.37	-3.99	0.04069	Kinesin, motor domain (1);	0.673490	0.13374	N	0.392672	T	0.11067	0.0270	N	0.22421	0.69	0.26191	N	0.979582	B	0.33171	0.4	B	0.39738	0.308	T	0.31503	-0.9941	10	0.62326	D	0.03	.	6.1538	0.20326	0.2837:0.3426:0.3737:0.0	.	210	Q8N4N8	KIF2B_HUMAN	H	210;133	ENSP00000268919:Q210H	ENSP00000268919:Q210H	Q	+	3	2	KIF2B	49256023	0.004000	0.15560	0.232000	0.24009	0.880000	0.50808	-0.527000	0.06200	-0.429000	0.07329	0.533000	0.62120	CAA		0.537	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		12	23	0	0	0	0	12	23				
ABCA9	10350	broad.mit.edu	37	17	67031933	67031933	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr17:67031933C>T	ENST00000340001.4	-	7	1021	c.810G>A	c.(808-810)tgG>tgA	p.W270*	ABCA9_ENST00000453985.2_Nonsense_Mutation_p.W270*|ABCA9_ENST00000370732.2_Nonsense_Mutation_p.W270*	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	270					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ACATCAAACCCCAGGAAAGCC	0.403																																						uc002jhu.2		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(808-810)TGG>TGA		ATP-binding cassette, sub-family A, member 9							61.0	58.0	59.0					17																	67031933		2203	4300	6503	SO:0001587	stop_gained	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67031933C>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.810G>A	17.37:g.67031933C>T	ENSP00000342216:p.Trp270*					ABCA9_uc010dez.2_Nonsense_Mutation_p.W270*	p.W270*	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			7	953	-	Breast(10;1.47e-12)		270			Helical; (Potential).		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Nonsense_Mutation	SNP	ENST00000340001.4	37	c.810G>A	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	37	6.523872	0.97637	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	.	.	.	4.58	4.58	0.56647	.	0.000000	0.42548	D	0.000688	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5578	0.68113	0.0:1.0:0.0:0.0	.	.	.	.	X	270;253;270;265	.	ENSP00000342216:W270X	W	-	3	0	ABCA9	64543528	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.245000	0.72398	2.550000	0.86006	0.591000	0.81541	TGG		0.403	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		10	14	0	0	0	0	10	14				
PLEKHJ1	55111	broad.mit.edu	37	19	2233901	2233901	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:2233901G>C	ENST00000589097.1	-	7	1501	c.388C>G	c.(388-390)Ccc>Gcc	p.P130A	PLEKHJ1_ENST00000591099.2_3'UTR|SF3A2_ENST00000221494.5_5'Flank|PLEKHJ1_ENST00000587962.2_Silent_p.T160T|PLEKHJ1_ENST00000326631.2_Missense_Mutation_p.P130A|PLEKHJ1_ENST00000586608.2_Missense_Mutation_p.P131A|MIR1227_ENST00000408484.1_RNA|PLEKHJ1_ENST00000587394.2_Intron|PLEKHJ1_ENST00000589791.1_5'UTR			Q9NW61	PKHJ1_HUMAN	pleckstrin homology domain containing, family J member 1	130										endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTTCCAGGGGGTCCTGTGGG	0.692																																						uc002lvf.1		NA																	0					0						c.(388-390)CCC>GCC		pleckstrin homology domain containing, family J							42.0	38.0	40.0					19																	2233901		2203	4299	6502	SO:0001583	missense	55111						protein binding	g.chr19:2233901G>C	AK001159	CCDS12083.1, CCDS74251.1	19p13.3	2013-01-10				ENSG00000104886		"""Pleckstrin homology (PH) domain containing"""	18211	protein-coding gene	gene with protein product	"""guanine nucleotide releasing protein x"""					11602354	Standard	XM_006722784		Approved	FLJ10297	uc002lvf.1	Q9NW61		ENST00000589097.1:c.388C>G	19.37:g.2233901G>C	ENSP00000465391:p.Pro130Ala					SF3A2_uc002lvg.2_5'Flank	p.P130A	NM_018049	NP_060519	Q9NW61	PKHJ1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	469	-			130					B3KUQ9|D6W604	Missense_Mutation	SNP	ENST00000589097.1	37	c.388C>G	CCDS12083.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210375	0.79240	.	.	ENSG00000104886	ENST00000326631	.	.	.	4.05	4.05	0.47172	.	0.133439	0.50627	D	0.000113	T	0.61949	0.2388	L	0.32530	0.975	0.58432	D	0.999996	D	0.67145	0.996	P	0.58266	0.836	T	0.67515	-0.5651	9	0.72032	D	0.01	-5.3515	15.2138	0.73247	0.0:0.0:1.0:0.0	.	130	Q9NW61	PKHJ1_HUMAN	A	130	.	ENSP00000318075:P130A	P	-	1	0	PLEKHJ1	2184901	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	4.238000	0.58688	1.788000	0.52465	0.561000	0.74099	CCC		0.692	PLEKHJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451255.1	NM_018049		8	29	0	0	0	0	8	29				
ZNF561	93134	broad.mit.edu	37	19	9721791	9721791	+	Silent	SNP	T	T	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:9721791T>A	ENST00000302851.3	-	6	909	c.546A>T	c.(544-546)ccA>ccT	p.P182P	ZNF561_ENST00000424629.1_Silent_p.P113P|ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000495503.1_5'UTR|ZNF561_ENST00000354661.4_Silent_p.P46P	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	182					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						CAGCAAGACCTGGAGTTAGAG	0.388																																						uc002mlu.2		NA																	0				ovary(1)	1						c.(544-546)CCA>CCT		zinc finger protein 561							71.0	66.0	67.0					19																	9721791		2203	4300	6503	SO:0001819	synonymous_variant	93134				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9721791T>A	AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"""Zinc fingers, C2H2-type"", ""-"""	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.546A>T	19.37:g.9721791T>A						ZNF561_uc010dwu.2_Silent_p.P113P|ZNF561_uc010xkr.1_Silent_p.P46P	p.P182P	NM_152289	NP_689502	Q8N587	ZN561_HUMAN			6	751	-			182			C2H2-type 2; degenerate.		B4E2Q8|Q6PJS0	Silent	SNP	ENST00000302851.3	37	c.546A>T	CCDS12216.2																																																																																				0.388	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347272.2	NM_152289		11	42	0	0	0	0	11	42				
ZNF561	93134	broad.mit.edu	37	19	9721793	9721793	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:9721793G>A	ENST00000302851.3	-	6	907	c.544C>T	c.(544-546)Cca>Tca	p.P182S	ZNF561_ENST00000424629.1_Missense_Mutation_p.P113S|ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000495503.1_5'UTR|ZNF561_ENST00000354661.4_Missense_Mutation_p.P46S	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	182					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						GCAAGACCTGGAGTTAGAGTA	0.388																																						uc002mlu.2		NA																	0				ovary(1)	1						c.(544-546)CCA>TCA		zinc finger protein 561							71.0	66.0	68.0					19																	9721793		2203	4300	6503	SO:0001583	missense	93134				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9721793G>A	AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"""Zinc fingers, C2H2-type"", ""-"""	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.544C>T	19.37:g.9721793G>A	ENSP00000303915:p.Pro182Ser					ZNF561_uc010dwu.2_Missense_Mutation_p.P113S|ZNF561_uc010xkr.1_Missense_Mutation_p.P46S	p.P182S	NM_152289	NP_689502	Q8N587	ZN561_HUMAN			6	749	-			182			C2H2-type 2; degenerate.		B4E2Q8|Q6PJS0	Missense_Mutation	SNP	ENST00000302851.3	37	c.544C>T	CCDS12216.2	.	.	.	.	.	.	.	.	.	.	G	1.592	-0.528709	0.04112	.	.	ENSG00000171469	ENST00000424629;ENST00000302851;ENST00000354661;ENST00000444611	T;T;T;T	0.11821	2.74;2.74;2.74;2.75	1.14	1.14	0.20703	.	.	.	.	.	T	0.05914	0.0154	N	0.00419	-1.52	0.09310	N	1	D	0.63880	0.993	D	0.72982	0.979	T	0.34675	-0.9819	9	0.02654	T	1	.	3.4135	0.07366	0.27:0.0:0.73:0.0	.	182	Q8N587	ZN561_HUMAN	S	113;182;46;188	ENSP00000393074:P113S;ENSP00000303915:P182S;ENSP00000346687:P46S;ENSP00000392013:P188S	ENSP00000303915:P182S	P	-	1	0	ZNF561	9582793	0.000000	0.05858	0.131000	0.22000	0.407000	0.30961	-0.349000	0.07731	0.910000	0.36722	0.305000	0.20034	CCA		0.388	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347272.2	NM_152289		11	43	0	0	0	0	11	43				
DCAF15	90379	broad.mit.edu	37	19	14069909	14069909	+	Silent	SNP	G	G	A	rs199921180		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:14069909G>A	ENST00000254337.6	+	7	858	c.837G>A	c.(835-837)gcG>gcA	p.A279A		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	279					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GCCCCCTGGCGCCTGCCAGCC	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		12289	0.001		0.0	False		,,,				2504	0.0					uc002mxt.2		NA																	0				central_nervous_system(1)	1						c.(835-837)GCG>GCA		DDB1 and CUL4 associated factor 15							42.0	50.0	48.0					19																	14069909		2202	4299	6501	SO:0001819	synonymous_variant	90379							g.chr19:14069909G>A	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"""DDB1 and CUL4 associated factors"""	25095	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 72"""	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.837G>A	19.37:g.14069909G>A						DCAF15_uc002mxu.2_5'Flank	p.A279A	NM_138353	NP_612362	Q66K64	DCA15_HUMAN			7	843	+			279					B3KS86|Q96DW0|Q9BU31	Silent	SNP	ENST00000254337.6	37	c.837G>A	CCDS32926.1																																																																																				0.657	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		142	40	0	0	0	0	142	40				
CYP4F2	8529	broad.mit.edu	37	19	16003194	16003194	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:16003194C>T	ENST00000221700.6	-	5	545	c.450G>A	c.(448-450)atG>atA	p.M150I	CYP4F2_ENST00000011989.7_Start_Codon_SNP_p.M1I	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGGCGTCAGCATCCGACGGT	0.562																																						uc002nbs.1		NA																	0				ovary(1)|skin(1)	2						c.(448-450)ATG>ATA		cytochrome P450, family 4, subfamily F,							96.0	97.0	96.0					19																	16003194		2203	4300	6503	SO:0001583	missense	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:16003194C>T	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.450G>A	19.37:g.16003194C>T	ENSP00000221700:p.Met150Ile					CYP4F2_uc010xot.1_Missense_Mutation_p.M1I|CYP4F2_uc010xou.1_Missense_Mutation_p.M1I	p.M150I	NM_001082	NP_001073	P78329	CP4F2_HUMAN			5	500	-			150						Missense_Mutation	SNP	ENST00000221700.6	37	c.450G>A	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	c	12.80	2.047787	0.36085	.	.	ENSG00000186115	ENST00000221700;ENST00000392846;ENST00000011989	T;T	0.67523	-0.27;-0.27	2.7	2.7	0.31948	.	0.120408	0.33712	U	0.004639	T	0.53351	0.1791	N	0.12961	0.28	0.80722	D	1	B;B	0.31290	0.221;0.318	B;B	0.42959	0.403;0.363	T	0.57069	-0.7874	10	0.87932	D	0	.	6.9251	0.24410	0.274:0.726:0.0:0.0	.	1;150	B4DV75;P78329	.;CP4F2_HUMAN	I	150;1;1	ENSP00000221700:M150I;ENSP00000011989:M1I	ENSP00000011989:M1I	M	-	3	0	CYP4F2	15864194	1.000000	0.71417	0.999000	0.59377	0.299000	0.27559	0.867000	0.27968	1.486000	0.48398	0.289000	0.19496	ATG		0.562	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		35	46	0	0	0	0	35	46				
TMEM59L	25789	broad.mit.edu	37	19	18726931	18726931	+	Silent	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:18726931G>T	ENST00000600490.1	+	5	740	c.555G>T	c.(553-555)gtG>gtT	p.V185V	TMEM59L_ENST00000262817.3_Silent_p.V185V			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	185						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						AAGTGGTGGTGTTTCAGGTGA	0.527																																						uc002njy.3		NA																	0				ovary(2)|skin(2)	4						c.(553-555)GTG>GTT		brain-specific membrane-anchored protein							128.0	124.0	126.0					19																	18726931		2203	4300	6503	SO:0001819	synonymous_variant	25789					Golgi membrane|integral to membrane|membrane fraction		g.chr19:18726931G>T	AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 4"""	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.555G>T	19.37:g.18726931G>T						TMEM59L_uc010ebu.1_Silent_p.V185V	p.V185V	NM_012109	NP_036241	Q9UK28	TM59L_HUMAN			4	642	+			185						Silent	SNP	ENST00000600490.1	37	c.555G>T	CCDS12383.1																																																																																				0.527	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465143.2			39	52	1	0	1.76e-25	2.33e-25	39	52				
ZNF536	9745	broad.mit.edu	37	19	30935385	30935385	+	Missense_Mutation	SNP	G	G	C	rs201482419		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:30935385G>C	ENST00000355537.3	+	2	1063	c.916G>C	c.(916-918)Gac>Cac	p.D306H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	306					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CACGTTGTGCGACTTCGCGGC	0.642																																						uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(916-918)GAC>CAC		zinc finger protein 536							73.0	81.0	78.0					19																	30935385		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935385G>C		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.916G>C	19.37:g.30935385G>C	ENSP00000347730:p.Asp306His					ZNF536_uc010edd.1_Missense_Mutation_p.D306H	p.D306H	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	1054	+	Esophageal squamous(110;0.0834)		306			C2H2-type 4.		A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.916G>C	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	9.859	1.195813	0.22037	.	.	ENSG00000198597	ENST00000355537	T	0.30714	1.52	5.7	3.58	0.41010	Zinc finger, C2H2-like (1);	0.145674	0.64402	D	0.000008	T	0.45478	0.1344	L	0.45352	1.415	0.44762	D	0.997765	D;D	0.89917	0.999;1.0	D;D	0.81914	0.947;0.995	T	0.36625	-0.9740	10	0.62326	D	0.03	-41.5248	12.3069	0.54908	0.1374:0.0:0.8626:0.0	.	306;306	A7E228;O15090	.;ZN536_HUMAN	H	306	ENSP00000347730:D306H	ENSP00000347730:D306H	D	+	1	0	ZNF536	35627225	1.000000	0.71417	0.998000	0.56505	0.377000	0.30045	7.973000	0.88032	0.777000	0.33496	-0.339000	0.08088	GAC		0.642	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		44	67	0	0	0	0	44	67				
FFAR3	2865	broad.mit.edu	37	19	35849960	35849960	+	Silent	SNP	C	C	T	rs578021833		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:35849960C>T	ENST00000327809.4	+	2	369	c.168C>T	c.(166-168)aaC>aaT	p.N56N	FFAR3_ENST00000594310.1_Silent_p.N56N	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	56					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TCCTGCTCAACCTGACCGCCT	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		22842	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(185;1742 2042 21963 24215 27871)	uc002nzd.2		NA																	0					0						c.(166-168)AAC>AAT		free fatty acid receptor 3							103.0	96.0	98.0					19																	35849960		2199	4294	6493	SO:0001819	synonymous_variant	2865					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35849960C>T	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"""GPCR / Class A : Fatty acid receptors"""	4499	protein-coding gene	gene with protein product		603821	"""G protein-coupled receptor 41"""	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.168C>T	19.37:g.35849960C>T						FFAR3_uc010xsu.1_RNA	p.N56N	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		2	243	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		56			Helical; Name=2; (Potential).		B2RWM8|Q14CM7	Silent	SNP	ENST00000327809.4	37	c.168C>T	CCDS12459.1																																																																																				0.667	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304		9	81	0	0	0	0	9	81				
TMEM145	284339	broad.mit.edu	37	19	42820842	42820842	+	Silent	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:42820842C>T	ENST00000301204.3	+	10	797	c.756C>T	c.(754-756)ctC>ctT	p.L252L	TMEM145_ENST00000598766.1_Silent_p.L276L	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	252					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CCAGCTTCCTCATCTTCCTGC	0.662																																						uc002otk.1		NA																	0					0						c.(754-756)CTC>CTT		transmembrane protein 145							86.0	79.0	82.0					19																	42820842		2203	4300	6503	SO:0001819	synonymous_variant	284339					integral to membrane		g.chr19:42820842C>T	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.756C>T	19.37:g.42820842C>T							p.L252L	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN			10	808	+		Prostate(69;0.00682)	252			Helical; (Potential).			Silent	SNP	ENST00000301204.3	37	c.756C>T	CCDS12603.1																																																																																				0.662	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		5	57	0	0	0	0	5	57				
LILRB1	10859	broad.mit.edu	37	19	55144499	55144499	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:55144499C>A	ENST00000396331.1	+	8	1348	c.991C>A	c.(991-993)Cag>Aag	p.Q331K	LILRB1_ENST00000434867.2_Missense_Mutation_p.Q331K|LILRB1_ENST00000418536.2_Missense_Mutation_p.Q331K|LILRB1_ENST00000396317.1_Missense_Mutation_p.Q331K|LILRB1_ENST00000427581.2_Missense_Mutation_p.Q367K|LILRB1_ENST00000324602.7_Missense_Mutation_p.Q331K|LILRB1_ENST00000396327.3_Missense_Mutation_p.Q331K|LILRB1_ENST00000396321.2_Missense_Mutation_p.Q331K|LILRB1_ENST00000396315.1_Missense_Mutation_p.Q331K|LILRB1_ENST00000448689.1_Missense_Mutation_p.Q331K|LILRB1_ENST00000396332.4_Missense_Mutation_p.Q331K	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	331	Ig-like C2-type 4.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCTCTCGGTGCAGCCGGGCCC	0.612										HNSCC(37;0.09)																												uc002qgj.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(991-993)CAG>AAG		leukocyte immunoglobulin-like receptor,							59.0	63.0	61.0					19																	55144499		2203	4300	6503	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55144499C>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.991C>A	19.37:g.55144499C>A	ENSP00000379622:p.Gln331Lys	HNSCC(37;0.09)				LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.Q331K|LILRB1_uc002qgk.2_Missense_Mutation_p.Q331K|LILRB1_uc002qgm.2_Missense_Mutation_p.Q331K|LILRB1_uc010erq.2_Missense_Mutation_p.Q331K|LILRB1_uc010err.2_RNA	p.Q331K	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	8	1331	+			331			Ig-like C2-type 4.|Extracellular (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.991C>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.765505	0.31228	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.02890	4.12;4.12;4.12;4.12;4.12;4.12;4.12;4.12;4.12;4.12;4.12	2.25	-1.69	0.08186	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.421290	0.00966	N	0.003178	T	0.11452	0.0279	M	0.89163	3.01	0.09310	N	1	P;P;P;P;P	0.41978	0.566;0.553;0.549;0.553;0.767	B;P;B;B;P	0.51945	0.285;0.557;0.256;0.373;0.685	T	0.29397	-1.0013	10	0.48119	T	0.1	.	1.9094	0.03284	0.2689:0.3585:0.0:0.3725	.	331;331;331;331;331	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	K	331;331;331;331;331;331;331;331;367;331;331	ENSP00000379614:Q331K;ENSP00000391514:Q331K;ENSP00000409968:Q331K;ENSP00000379622:Q331K;ENSP00000379618:Q331K;ENSP00000315997:Q331K;ENSP00000405243:Q331K;ENSP00000379623:Q331K;ENSP00000395004:Q367K;ENSP00000379610:Q331K;ENSP00000379608:Q331K	ENSP00000315997:Q331K	Q	+	1	0	LILRB1	59836311	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.476000	0.22180	-0.147000	0.11254	0.205000	0.17691	CAG		0.612	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			15	38	1	0	1.34e-09	1.61e-09	15	38				
TRAPPC12	51112	broad.mit.edu	37	2	3469400	3469400	+	Silent	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:3469400G>T	ENST00000324266.5	+	9	1905	c.1710G>T	c.(1708-1710)tcG>tcT	p.S570S	TRAPPC12_ENST00000469147.1_3'UTR|TRAPPC12_ENST00000382110.2_Silent_p.S570S	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	570					vesicle-mediated transport (GO:0016192)												CGTATCATTCGGTTATCAAGT	0.532																																						uc002qxm.1		NA																	0				ovary(2)|breast(1)|pancreas(1)	4						c.(1708-1710)TCG>TCT		tetratricopeptide repeat domain 15							123.0	118.0	120.0					2																	3469400		2203	4300	6503	SO:0001819	synonymous_variant	51112						binding	g.chr2:3469400G>T	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1710G>T	2.37:g.3469400G>T						TTC15_uc002qxn.1_Silent_p.S570S|TTC15_uc010ewm.1_Silent_p.S576S	p.S570S	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)	9	1916	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)	570			TPR 1.		B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Silent	SNP	ENST00000324266.5	37	c.1710G>T	CCDS1652.1	.	.	.	.	.	.	.	.	.	.	G	5.156	0.214433	0.09810	.	.	ENSG00000171853	ENST00000433382	.	.	.	5.65	-11.3	0.00108	.	.	.	.	.	T	0.30885	0.0779	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50056	-0.8872	4	.	.	.	.	0.767	0.01017	0.1644:0.2672:0.2504:0.318	.	.	.	.	C	116	.	.	G	+	1	0	TTC15	3448407	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.899000	0.00705	-4.058000	0.00077	-1.113000	0.02065	GGT		0.532	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		24	51	1	0	4.78e-09	5.7e-09	24	51				
APOB	338	broad.mit.edu	37	2	21234136	21234136	+	Silent	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:21234136G>T	ENST00000233242.1	-	26	5731	c.5604C>A	c.(5602-5604)ctC>ctA	p.L1868L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1868					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCTGTGTTGAGCCGATGGC	0.458																																						uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(5602-5604)CTC>CTA		apolipoprotein B precursor	Atorvastatin(DB01076)						132.0	124.0	127.0					2																	21234136		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21234136G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.5604C>A	2.37:g.21234136G>T							p.L1868L	NM_000384	NP_000375	P04114	APOB_HUMAN			26	5732	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1868					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.5604C>A	CCDS1703.1																																																																																				0.458	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			29	83	1	0	3.74e-18	4.86e-18	29	83				
APOB	338	broad.mit.edu	37	2	21255430	21255430	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:21255430A>G	ENST00000233242.1	-	10	1275	c.1148T>C	c.(1147-1149)gTt>gCt	p.V383A	APOB_ENST00000399256.4_Missense_Mutation_p.V383A	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	383	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCACACTGAACCAAGGCTTG	0.502																																						uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(1147-1149)GTT>GCT		apolipoprotein B precursor	Atorvastatin(DB01076)						58.0	51.0	53.0					2																	21255430		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21255430A>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1148T>C	2.37:g.21255430A>G	ENSP00000233242:p.Val383Ala						p.V383A	NM_000384	NP_000375	P04114	APOB_HUMAN			10	1276	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		383			Vitellogenin.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.1148T>C	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.362754	0.41902	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.35236	1.32;1.32	5.41	5.41	0.78517	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	0.607195	0.15457	N	0.261355	T	0.20740	0.0499	N	0.19112	0.55	0.24531	N	0.994111	B	0.21071	0.051	B	0.21151	0.033	T	0.16897	-1.0387	10	0.18276	T	0.48	.	5.7645	0.18219	0.7103:0.1465:0.1432:0.0	.	383	P04114	APOB_HUMAN	A	383	ENSP00000233242:V383A;ENSP00000382200:V383A	ENSP00000233242:V383A	V	-	2	0	APOB	21108935	0.028000	0.19301	1.000000	0.80357	0.998000	0.95712	1.185000	0.32065	2.182000	0.69389	0.528000	0.53228	GTT		0.502	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			11	21	0	0	0	0	11	21				
BRE	9577	broad.mit.edu	37	2	28117398	28117398	+	Splice_Site	SNP	A	A	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:28117398A>T	ENST00000342045.2	+	3	117		c.e3-1		BRE_ENST00000603461.1_Intron|BRE_ENST00000361704.2_Splice_Site|BRE_ENST00000379632.2_Splice_Site|BRE_ENST00000344773.2_Splice_Site|BRE_ENST00000379624.1_Splice_Site	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)											NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TTCTGCTTTCAGTGGTGATTT	0.438																																						uc002rlr.2		NA																	0				lung(1)|kidney(1)|skin(1)	3						c.e3-2		brain and reproductive organ-expressed (TNFRSF1A							159.0	157.0	157.0					2																	28117398		2203	4300	6503	SO:0001630	splice_region_variant	9577				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	g.chr2:28117398A>T	AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 4"""	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.-24-1A>T	2.37:g.28117398A>T						BRE_uc002rlp.1_Splice_Site|BRE_uc002rlq.2_Splice_Site|BRE_uc002rls.2_Splice_Site|BRE_uc002rlt.2_Splice_Site|BRE_uc002rlu.2_Splice_Site		NM_199194	NP_954664	Q9NXR7	BRE_HUMAN			3	295	+	Acute lymphoblastic leukemia(172;0.155)								Splice_Site	SNP	ENST00000342045.2	37	c.-23_splice	CCDS1763.1																																																																																				0.438	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215114.1		Intron	44	107	0	0	0	0	44	107				
POLR1A	25885	broad.mit.edu	37	2	86327213	86327213	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:86327213C>T	ENST00000263857.6	-	2	538	c.160G>A	c.(160-162)Gct>Act	p.A54T	POLR1A_ENST00000409681.1_Missense_Mutation_p.A54T			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	54					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GGGCCCAAAGCTAAATCGTAC	0.517																																						uc002sqs.2		NA																	0				ovary(2)|skin(1)	3						c.(160-162)GCT>ACT		DNA-directed RNA polymerase I A							87.0	91.0	90.0					2																	86327213		1941	4160	6101	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86327213C>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.160G>A	2.37:g.86327213C>T	ENSP00000263857:p.Ala54Thr					POLR1A_uc002sqv.2_Missense_Mutation_p.A54T	p.A54T	NM_015425	NP_056240	O95602	RPA1_HUMAN			2	539	-			54					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.160G>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405684	0.62288	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.68181	-0.31;-0.31	5.93	4.98	0.66077	RNA polymerase Rpb1, domain 1 (1);	0.102286	0.64402	D	0.000003	T	0.80513	0.4637	M	0.84082	2.675	0.52501	D	0.99995	P;P	0.49358	0.74;0.923	P;P	0.57009	0.457;0.811	T	0.83084	-0.0136	10	0.72032	D	0.01	-14.868	16.4797	0.84155	0.1827:0.8173:0.0:0.0	.	54;54	B9ZVN9;O95602	.;RPA1_HUMAN	T	54	ENSP00000263857:A54T;ENSP00000386300:A54T	ENSP00000263857:A54T	A	-	1	0	POLR1A	86180724	1.000000	0.71417	0.990000	0.47175	0.653000	0.38743	2.656000	0.46716	2.814000	0.96858	0.563000	0.77884	GCT		0.517	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		14	30	0	0	0	0	14	30				
FABP1	2168	broad.mit.edu	37	2	88427526	88427526	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:88427526G>A	ENST00000295834.3	-	1	109	c.11C>T	c.(10-12)tCc>tTc	p.S4F	FABP1_ENST00000393750.3_Missense_Mutation_p.S4F|FABP1_ENST00000495375.1_5'UTR	NM_001443.2	NP_001434.1	P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	4					cellular lipid metabolic process (GO:0044255)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|intestinal absorption (GO:0050892)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)	apical cortex (GO:0045179)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|peroxisomal matrix (GO:0005782)	antioxidant activity (GO:0016209)|bile acid binding (GO:0032052)|chromatin binding (GO:0003682)|drug binding (GO:0008144)|fatty acid binding (GO:0005504)|long-chain fatty acid transporter activity (GO:0005324)|phospholipid binding (GO:0005543)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						GTACTTGCCGGAGAAACTCAT	0.537																																						uc002sst.1		NA																	0					0						c.(10-12)TCC>TTC		fatty acid binding protein 1, liver							163.0	142.0	149.0					2																	88427526		2203	4300	6503	SO:0001583	missense	2168				organ morphogenesis			g.chr2:88427526G>A	M10617	CCDS2001.1	2p11	2013-03-01			ENSG00000163586	ENSG00000163586		"""Fatty acid binding protein family"""	3555	protein-coding gene	gene with protein product		134650				3012800, 17698986	Standard	NM_001443		Approved	L-FABP	uc002sst.2	P07148	OTTHUMG00000130312	ENST00000295834.3:c.11C>T	2.37:g.88427526G>A	ENSP00000295834:p.Ser4Phe					FABP1_uc002ssu.2_Missense_Mutation_p.S4F	p.S4F	NM_001443	NP_001434	P07148	FABPL_HUMAN			1	53	-			4						Missense_Mutation	SNP	ENST00000295834.3	37	c.11C>T	CCDS2001.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434399	0.62955	.	.	ENSG00000163586	ENST00000295834;ENST00000393750	T;T	0.14516	2.5;2.5	5.66	5.66	0.87406	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.308005	0.34507	N	0.003917	T	0.36991	0.0987	M	0.68593	2.085	0.43076	D	0.994728	D;D	0.69078	0.997;0.987	D;D	0.66979	0.948;0.918	T	0.05666	-1.0871	10	0.87932	D	0	.	18.3119	0.90203	0.0:0.0:1.0:0.0	.	4;4	A8MW49;P07148	.;FABPL_HUMAN	F	4	ENSP00000295834:S4F;ENSP00000377351:S4F	ENSP00000295834:S4F	S	-	2	0	FABP1	88208641	1.000000	0.71417	0.992000	0.48379	0.147000	0.21601	4.715000	0.61909	2.668000	0.90789	0.655000	0.94253	TCC		0.537	FABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252660.1	NM_001443		31	51	0	0	0	0	31	51				
AFF3	3899	broad.mit.edu	37	2	100203709	100203709	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:100203709T>C	ENST00000409236.2	-	14	2610	c.2498A>G	c.(2497-2499)aAg>aGg	p.K833R	AFF3_ENST00000317233.4_Missense_Mutation_p.K833R|AFF3_ENST00000356421.2_Missense_Mutation_p.K858R|AFF3_ENST00000409579.1_Missense_Mutation_p.K858R			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	833					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CTGGGACTTCTTGATCTCCCT	0.463																																						uc002tag.2		NA																	0				ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(2497-2499)AAG>AGG		AF4/FMR2 family, member 3 isoform 1							300.0	254.0	269.0					2																	100203709		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100203709T>C	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2498A>G	2.37:g.100203709T>C	ENSP00000387207:p.Lys833Arg					AFF3_uc002taf.2_Missense_Mutation_p.K858R|AFF3_uc010fiq.1_Missense_Mutation_p.K833R|AFF3_uc010yvr.1_Missense_Mutation_p.K986R|AFF3_uc002tah.1_Missense_Mutation_p.K858R	p.K833R	NM_002285	NP_002276	P51826	AFF3_HUMAN			15	2734	-			833					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.2498A>G	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.158180	0.78114	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	5.92	4.75	0.60458	.	0.000000	0.64402	D	0.000006	T	0.79335	0.4428	M	0.75264	2.295	0.42735	D	0.993723	B;D;B	0.76494	0.142;0.999;0.069	B;D;B	0.74674	0.137;0.984;0.027	T	0.79999	-0.1566	10	0.54805	T	0.06	.	10.9401	0.47268	0.0:0.0712:0.0:0.9288	.	986;833;858	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	R	833;858;858;833;833;986	ENSP00000317421:K833R;ENSP00000348793:K858R;ENSP00000386834:K858R;ENSP00000387207:K833R	ENSP00000317421:K833R	K	-	2	0	AFF3	99570141	1.000000	0.71417	0.986000	0.45419	0.977000	0.68977	3.605000	0.54088	1.041000	0.40125	0.533000	0.62120	AAG		0.463	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		50	110	0	0	0	0	50	110				
CNTNAP5	129684	broad.mit.edu	37	2	125284860	125284860	+	Splice_Site	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:125284860A>G	ENST00000431078.1	+	10	1838		c.e10-1			NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCTGTCCCACAGGGTGCCCCG	0.453																																						uc002tno.2		NA																	0				ovary(10)	10						c.e10-2		contactin associated protein-like 5 precursor							88.0	84.0	85.0					2																	125284860		1938	4143	6081	SO:0001630	splice_region_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125284860A>G	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1475-1A>G	2.37:g.125284860A>G						CNTNAP5_uc010flu.2_Splice_Site_p.G493_splice	p.G492_splice	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	10	1839	+								Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Splice_Site	SNP	ENST00000431078.1	37	c.1475_splice	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.139105	0.77775	.	.	ENSG00000155052	ENST00000431078	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1112	0.72359	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTNAP5	125001330	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.603000	0.90871	2.169000	0.68431	0.528000	0.53228	.		0.453	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		Intron	3	21	0	0	0	0	3	21				
MAP3K19	80122	broad.mit.edu	37	2	135756434	135756434	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:135756434T>A	ENST00000375845.3	-	5	478	c.448A>T	c.(448-450)Agg>Tgg	p.R150W	MAP3K19_ENST00000392915.1_Missense_Mutation_p.R167W|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Missense_Mutation_p.R150W|MAP3K19_ENST00000392917.3_Missense_Mutation_p.R150W|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000392918.3_Missense_Mutation_p.R150W	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	150							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CAGAGCTCCCTGGAACTTTCC	0.428																																						uc002tue.1		NA																	0				stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5						c.(448-450)AGG>TGG		Yeast Sps1/Ste20-related kinase 4 isoform 1							80.0	81.0	81.0					2																	135756434		2203	4300	6503	SO:0001583	missense	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135756434T>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.448A>T	2.37:g.135756434T>A	ENSP00000365005:p.Arg150Trp					YSK4_uc010fne.1_Missense_Mutation_p.R122W|YSK4_uc002tuf.1_Missense_Mutation_p.R150W|YSK4_uc010fnc.1_Missense_Mutation_p.R150W|YSK4_uc010fnd.1_Intron|YSK4_uc010zbg.1_Missense_Mutation_p.R150W|YSK4_uc002tui.3_Missense_Mutation_p.R167W	p.R150W	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	5	479	-			150					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.448A>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	T	15.53	2.860686	0.51482	.	.	ENSG00000176601	ENST00000375845;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000392915	T;T;T;T;T	0.72505	-0.58;-0.59;-0.66;-0.56;1.79	5.19	-3.19	0.05171	.	1.281410	0.05519	N	0.561682	T	0.60379	0.2264	N	0.22421	0.69	0.09310	N	0.999999	P;D;P;D;P;D	0.59767	0.824;0.986;0.89;0.986;0.89;0.975	B;P;B;P;B;B	0.49502	0.24;0.613;0.42;0.613;0.42;0.408	T	0.56432	-0.7980	10	0.59425	D	0.04	.	6.0155	0.19601	0.0:0.2442:0.4325:0.3233	.	150;150;150;167;150;150	B7ZMH9;Q56UN5-2;Q56UN5-4;A8MWG7;Q56UN5-5;Q56UN5	.;.;.;.;.;YSK4_HUMAN	W	150;150;150;150;167	ENSP00000365005:R150W;ENSP00000365004:R150W;ENSP00000376650:R150W;ENSP00000376649:R150W;ENSP00000376647:R167W	ENSP00000365004:R150W	R	-	1	2	YSK4	135472904	0.000000	0.05858	0.002000	0.10522	0.177000	0.22998	-0.524000	0.06222	-0.409000	0.07553	0.496000	0.49642	AGG		0.428	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		22	37	0	0	0	0	22	37				
ABCA12	26154	broad.mit.edu	37	2	215840653	215840653	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:215840653C>T	ENST00000272895.7	-	34	5456	c.5237G>A	c.(5236-5238)gGt>gAt	p.G1746D	ABCA12_ENST00000389661.4_Missense_Mutation_p.G1428D	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1746					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)		AGCAATGAGACCTTTCCAGTT	0.498																																					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.(5236-5238)GGT>GAT		ATP-binding cassette, sub-family A, member 12							188.0	170.0	176.0					2																	215840653		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215840653C>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.5237G>A	2.37:g.215840653C>T	ENSP00000272895:p.Gly1746Asp					ABCA12_uc002vev.2_Missense_Mutation_p.G1428D|ABCA12_uc010zjn.1_Missense_Mutation_p.G673D	p.G1746D	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)	34	5457	-		Renal(323;0.127)	1746					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.5237G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	33	5.203183	0.95033	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.87491	-2.26;-2.26	5.87	5.87	0.94306	.	0.182670	0.40818	N	0.001001	D	0.91928	0.7444	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.90777	0.4676	10	0.49607	T	0.09	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	1746;1428	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	D	1746;1428	ENSP00000272895:G1746D;ENSP00000374312:G1428D	ENSP00000272895:G1746D	G	-	2	0	ABCA12	215548898	1.000000	0.71417	0.973000	0.42090	0.906000	0.53458	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	GGT		0.498	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		14	30	0	0	0	0	14	30				
PLCD4	84812	broad.mit.edu	37	2	219494358	219494358	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:219494358T>C	ENST00000450993.2	+	8	1430	c.1091T>C	c.(1090-1092)gTg>gCg	p.V364A	PLCD4_ENST00000417849.1_Missense_Mutation_p.V364A|PLCD4_ENST00000432688.1_Missense_Mutation_p.V364A	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	364	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AAAGATGTCGTGGCCACAGTA	0.592																																						uc002vij.1		NA																	0				ovary(3)	3						c.(1090-1092)GTG>GCG		phospholipase C, delta 4							59.0	62.0	61.0					2																	219494358		2083	4211	6294	SO:0001583	missense	84812				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:219494358T>C	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.1091T>C	2.37:g.219494358T>C	ENSP00000388631:p.Val364Ala					PLCD4_uc002vik.1_3'UTR|PLCD4_uc010zkk.1_Intron	p.V364A	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	1286	+		Renal(207;0.0915)	364			PI-PLC X-box.		Q53FS8	Missense_Mutation	SNP	ENST00000450993.2	37	c.1091T>C	CCDS46516.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.737866	0.89573	.	.	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000417849;ENST00000432688	T;T;T	0.65549	-0.16;-0.16;-0.16	5.09	5.09	0.68999	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.264371	0.36972	N	0.002314	T	0.71533	0.3351	M	0.85197	2.74	0.37406	D	0.913049	P	0.46512	0.879	P	0.46253	0.509	T	0.81588	-0.0864	10	0.87932	D	0	.	14.7067	0.69198	0.0:0.0:0.0:1.0	.	364	Q9BRC7	PLCD4_HUMAN	A	364	ENSP00000388631:V364A;ENSP00000396942:V364A;ENSP00000396185:V364A	ENSP00000251959:V364A	V	+	2	0	PLCD4	219202602	0.996000	0.38824	0.090000	0.20809	0.837000	0.47467	7.668000	0.83897	2.146000	0.66826	0.402000	0.26972	GTG		0.592	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			10	22	0	0	0	0	10	22				
PCSK2	5126	broad.mit.edu	37	20	17446068	17446068	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr20:17446068G>A	ENST00000262545.2	+	11	1615	c.1300G>A	c.(1300-1302)Gtc>Atc	p.V434I	PCSK2_ENST00000536609.1_Missense_Mutation_p.V399I|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Missense_Mutation_p.V415I	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	434	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GCGCAATGGGGTCGGCCTGGA	0.562																																						uc002wpm.2		NA																	0				ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7						c.(1300-1302)GTC>ATC		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						101.0	73.0	82.0					20																	17446068		2203	4300	6503	SO:0001583	missense	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17446068G>A	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1300G>A	20.37:g.17446068G>A	ENSP00000262545:p.Val434Ile					PCSK2_uc002wpl.2_Missense_Mutation_p.V415I|PCSK2_uc010zrm.1_Missense_Mutation_p.V399I|PCSK2_uc002wpn.2_Missense_Mutation_p.V88I	p.V434I	NM_002594	NP_002585	P16519	NEC2_HUMAN			11	1620	+			434					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.1300G>A	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	32	5.151810	0.94645	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	T;T;T	0.42900	0.96;0.96;0.96	5.61	5.61	0.85477	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	T	0.48554	0.1506	L	0.27975	0.815	0.80722	D	1	P;D;B	0.53619	0.936;0.961;0.33	P;P;B	0.56434	0.798;0.798;0.175	T	0.48692	-0.9013	10	0.62326	D	0.03	-36.1882	18.2039	0.89848	0.0:0.0:1.0:0.0	.	399;415;434	B4DFQ3;B1ANH9;P16519	.;.;NEC2_HUMAN	I	415;434;399	ENSP00000367131:V415I;ENSP00000262545:V434I;ENSP00000437458:V399I	ENSP00000262545:V434I	V	+	1	0	PCSK2	17394068	1.000000	0.71417	0.976000	0.42696	0.942000	0.58702	9.461000	0.97646	2.643000	0.89663	0.555000	0.69702	GTC		0.562	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		16	25	0	0	0	0	16	25				
CLTCL1	8218	broad.mit.edu	37	22	19195770	19195770	+	Missense_Mutation	SNP	C	C	T	rs372594770		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr22:19195770C>T	ENST00000263200.10	-	22	3566	c.3494G>A	c.(3493-3495)cGt>cAt	p.R1165H	CLTCL1_ENST00000442042.2_5'Flank|CLTCL1_ENST00000427926.1_Missense_Mutation_p.R1165H|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R1165H	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1165	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ATAGGACTCACGGCCCTTTTT	0.398			T	?	ALCL																																	uc002zpb.2		NA		Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				ovary(4)|central_nervous_system(1)	5						c.(3493-3495)CGT>CAT		clathrin, heavy polypeptide-like 1 isoform 1		C	HIS/ARG,HIS/ARG	0,3678		0,0,1839	90.0	90.0	90.0		3494,3494	0.7	0.0	22		90	1,8169		0,1,4084	no	missense,missense	CLTCL1	NM_001835.3,NM_007098.3	29,29	0,1,5923	TT,TC,CC		0.0122,0.0,0.0084	benign,benign	1165/1584,1165/1641	19195770	1,11847	1839	4085	5924	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19195770C>T		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.3494G>A	22.37:g.19195770C>T	ENSP00000445677:p.Arg1165His					CLTCL1_uc011agv.1_Missense_Mutation_p.R1165H|CLTCL1_uc011agw.1_Missense_Mutation_p.R1165H|CLTCL1_uc011agt.1_5'Flank|CLTCL1_uc011agu.1_5'Flank|CLTCL1_uc010grm.1_Intron|CLTCL1_uc002zpe.2_Missense_Mutation_p.R125H|CLTCL1_uc002zpd.1_Intron	p.R1165H	NM_007098	NP_009029	P53675	CLH2_HUMAN			22	3569	-	Colorectal(54;0.0993)		1165			Proximal segment.|Heavy chain arm.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.3494G>A	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658153	0.47467	0.0	1.22E-4	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.19532	2.14;2.14;2.14	4.17	0.67	0.17923	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.223528	0.36703	N	0.002445	T	0.28699	0.0711	M	0.86028	2.79	0.51767	D	0.999935	B;B	0.19445	0.036;0.005	B;B	0.32090	0.14;0.028	T	0.07366	-1.0776	10	0.59425	D	0.04	-0.3709	7.2495	0.26142	0.0:0.6609:0.0:0.3391	.	1165;1165	P53675-2;P53675	.;CLH2_HUMAN	H	1165	ENSP00000439662:R1165H;ENSP00000445677:R1165H;ENSP00000441158:R1165H	ENSP00000445677:R1165H	R	-	2	0	CLTCL1	17575770	0.294000	0.24380	0.049000	0.19019	0.937000	0.57800	0.177000	0.16801	-0.013000	0.14199	0.650000	0.86243	CGT		0.398	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		21	45	0	0	0	0	21	45				
PDXP	57026	broad.mit.edu	37	22	38061758	38061758	+	Silent	SNP	G	G	T	rs368413888		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr22:38061758G>T	ENST00000215904.6	+	2	827	c.771G>T	c.(769-771)acG>acT	p.T257T	SH3BP1_ENST00000599616.1_Silent_p.T566T|PDXP_ENST00000403251.1_Silent_p.T40T	NM_020315.4	NP_064711.1	Q96GD0	PLPP_HUMAN	pyridoxal (pyridoxine, vitamin B6) phosphatase	257					actin rod assembly (GO:0031247)|cellular response to ATP (GO:0071318)|positive regulation of actin filament depolymerization (GO:0030836)|protein dephosphorylation (GO:0006470)|pyridoxal phosphate catabolic process (GO:0032361)|regulation of cytokinesis (GO:0032465)|regulation of mitosis (GO:0007088)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heat shock protein binding (GO:0031072)|magnesium ion binding (GO:0000287)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|pyridoxal phosphatase activity (GO:0033883)			kidney(1)|large_intestine(1)|lung(5)|ovary(2)	9	Melanoma(58;0.0574)					CTGTGCTCACGCTCACAGGAG	0.622																																						uc003atj.1		NA																	0				central_nervous_system(1)	1						c.(1696-1698)ACG>ACT		SubName: Full=cDNA FLJ44925 fis, clone BRAMY3014613, highly similar to Homo sapiens SH3-domain binding protein 1 (SH3BP1);							106.0	98.0	100.0					22																	38061758		2203	4300	6503	SO:0001819	synonymous_variant	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38061758G>T	BC064922	CCDS13953.1	22q12.3	2005-08-16			ENSG00000241360	ENSG00000241360			30259	protein-coding gene	gene with protein product		609246				14522954	Standard	NM_020315		Approved	dJ37E16.5, FLJ32703		Q96GD0	OTTHUMG00000044618	ENST00000215904.6:c.771G>T	22.37:g.38061758G>T						PDXP_uc003atm.1_Silent_p.T257T	p.T566T			Q9Y3L3	3BP1_HUMAN			17	2585	+	Melanoma(58;0.0574)		Error:Variant_position_missing_in_Q9Y3L3_after_alignment					Q9UGY2	Silent	SNP	ENST00000215904.6	37	c.1698G>T	CCDS13953.1																																																																																				0.622	PDXP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104105.2	NM_020315		24	76	1	0	8.25e-16	1.06e-15	24	76				
PKDREJ	10343	broad.mit.edu	37	22	46655440	46655440	+	Silent	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr22:46655440G>A	ENST00000253255.5	-	1	3779	c.3780C>T	c.(3778-3780)acC>acT	p.T1260T		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1260	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GCACGTCGCTGGTACTCACAG	0.458																																						uc003bhh.2		NA																	0				breast(3)|ovary(2)	5						c.(3778-3780)ACC>ACT		receptor for egg jelly-like protein precursor							105.0	106.0	106.0					22																	46655440		2203	4300	6503	SO:0001819	synonymous_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46655440G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3780C>T	22.37:g.46655440G>A							p.T1260T	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	3780	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1260			Cytoplasmic (Potential).|PLAT.		B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	c.3780C>T	CCDS14073.1																																																																																				0.458	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		28	56	0	0	0	0	28	56				
TRANK1	9881	broad.mit.edu	37	3	36897366	36897366	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr3:36897366A>T	ENST00000429976.2	-	12	3962	c.3715T>A	c.(3715-3717)Tca>Aca	p.S1239T	TRANK1_ENST00000428977.2_Missense_Mutation_p.S689T|TRANK1_ENST00000301807.6_Missense_Mutation_p.S689T	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1239							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGAATGGTTGACTCTTCCTGT	0.473																																						uc003cgj.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2065-2067)TCA>ACA		lupus brain antigen 1							138.0	141.0	140.0					3																	36897366		2060	4205	6265	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36897366A>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.3715T>A	3.37:g.36897366A>T	ENSP00000416168:p.Ser1239Thr						p.S689T	NM_014831	NP_055646	O15050	TRNK1_HUMAN			3	2367	-			1239					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.2065T>A	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.669933	0.00758	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.30182	1.54;1.95;1.54	5.36	-8.72	0.00845	.	1.731500	0.02935	N	0.139706	T	0.09158	0.0226	N	0.03608	-0.345	0.09310	N	1	B	0.21309	0.054	B	0.21360	0.034	T	0.17868	-1.0355	10	0.10111	T	0.7	.	2.2749	0.04100	0.2578:0.389:0.1822:0.1711	.	1239	O15050	TRNK1_HUMAN	T	689;1239;689	ENSP00000416826:S689T;ENSP00000416168:S1239T;ENSP00000301807:S689T	ENSP00000301807:S689T	S	-	1	0	TRANK1	36872370	0.000000	0.05858	0.001000	0.08648	0.054000	0.15201	-2.896000	0.00706	-0.979000	0.03529	0.459000	0.35465	TCA		0.473	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		46	43	0	0	0	0	46	43				
HYAL1	3373	broad.mit.edu	37	3	50338477	50338477	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr3:50338477G>A	ENST00000266031.4	-	2	1547	c.932C>T	c.(931-933)gCg>gTg	p.A311V	HYAL3_ENST00000450982.1_5'Flank|NAT6_ENST00000417393.1_5'Flank|NAT6_ENST00000443094.2_5'Flank|HYAL1_ENST00000447605.2_Missense_Mutation_p.A52V|NAT6_ENST00000443842.1_5'Flank|HYAL1_ENST00000395143.2_Intron|HYAL1_ENST00000320295.8_Missense_Mutation_p.A311V|HYAL3_ENST00000336307.1_5'Flank|NAT6_ENST00000354862.4_5'Flank|HYAL1_ENST00000395144.2_Missense_Mutation_p.A311V|HYAL1_ENST00000457214.2_Missense_Mutation_p.A129V|HYAL3_ENST00000359051.3_5'Flank|HYAL3_ENST00000513170.1_5'Flank|HYAL3_ENST00000415204.1_5'Flank			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	311					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to pH (GO:0071467)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal joint morphogenesis (GO:0060272)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|negative regulation of cell growth (GO:0030308)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of growth (GO:0045927)|positive regulation of hyaluranon cable assembly (GO:1900106)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hyaluranon cable (GO:0036117)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	hyaluronan synthase activity (GO:0050501)|hyalurononglucosaminidase activity (GO:0004415)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCCCTGGGCCGCACTCTCCCC	0.627																																						uc003czp.2		NA																	0				lung(1)	1						c.(931-933)GCG>GTG		hyaluronoglucosaminidase 1 isoform 1	Hyaluronidase(DB00070)						42.0	42.0	42.0					3																	50338477		2202	4300	6502	SO:0001583	missense	3373					extracellular space|lysosome	hyalurononglucosaminidase activity	g.chr3:50338477G>A	U90094	CCDS2816.1, CCDS2817.1, CCDS46832.1, CCDS46833.1	3p21.31	2014-07-17			ENSG00000114378	ENSG00000114378	3.2.1.35		5320	protein-coding gene	gene with protein product		607071				9223416, 9409739	Standard	NM_153281		Approved	LUCA1, HYAL-1, FUS2, NAT6	uc003czp.4	Q12794	OTTHUMG00000156941	ENST00000266031.4:c.932C>T	3.37:g.50338477G>A	ENSP00000266031:p.Ala311Val					HYAL3_uc003czc.1_5'Flank|HYAL3_uc003czd.1_5'Flank|HYAL3_uc003cze.1_5'Flank|HYAL3_uc003czf.1_5'Flank|HYAL3_uc003czg.1_5'Flank|NAT6_uc003czi.2_5'Flank|NAT6_uc003czj.2_5'Flank|NAT6_uc003czk.3_5'Flank|NAT6_uc003czl.1_5'Flank|HYAL1_uc003czm.2_Missense_Mutation_p.A129V|HYAL1_uc003czo.2_Missense_Mutation_p.A52V|HYAL1_uc003czq.2_Intron|HYAL1_uc003czr.2_Missense_Mutation_p.A311V|HYAL1_uc003czn.2_5'UTR|HYAL1_uc003czs.2_Missense_Mutation_p.A311V|HYAL1_uc003czt.2_Missense_Mutation_p.A311V	p.A311V	NM_033159	NP_149349	Q12794	HYAL1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	3	1064	-			311					Q6FH23|Q6PIZ6|Q7KYU2|Q7LE34|Q8NFK5|Q8NFK6|Q8NFK7|Q8NFK8|Q8NFK9|Q93013|Q9UKD5|Q9UNI8	Missense_Mutation	SNP	ENST00000266031.4	37	c.932C>T	CCDS2816.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938613	0.52972	.	.	ENSG00000114378	ENST00000395144;ENST00000266031;ENST00000320295;ENST00000457214;ENST00000447605	T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96	4.66	1.72	0.24424	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.188469	0.45867	N	0.000340	T	0.12008	0.0292	L	0.39467	1.215	0.32376	N	0.55526	D;D	0.63880	0.977;0.993	B;B	0.35727	0.06;0.209	T	0.26258	-1.0108	10	0.33141	T	0.24	-1.6492	7.7088	0.28665	0.3036:0.0:0.6964:0.0	.	311;311	Q12794-7;Q12794	.;HYAL1_HUMAN	V	311;311;311;129;52	ENSP00000378576:A311V;ENSP00000266031:A311V;ENSP00000346068:A311V;ENSP00000393358:A129V;ENSP00000390149:A52V	ENSP00000266031:A311V	A	-	2	0	HYAL1	50313481	0.910000	0.30920	0.671000	0.29857	0.926000	0.56050	2.742000	0.47434	0.350000	0.24002	-0.251000	0.11542	GCG		0.627	HYAL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346703.1			3	26	0	0	0	0	3	26				
SAMD7	344658	broad.mit.edu	37	3	169642876	169642876	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr3:169642876A>T	ENST00000428432.2	+	5	631	c.242A>T	c.(241-243)aAg>aTg	p.K81M	SAMD7_ENST00000335556.3_Missense_Mutation_p.K81M	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	81										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GAATCCATAAAGGCAGTGGCC	0.343																																						uc003fgd.2		NA																	0				skin(1)	1						c.(241-243)AAG>ATG		sterile alpha motif domain containing 7							122.0	120.0	120.0					3																	169642876		2203	4300	6503	SO:0001583	missense	344658							g.chr3:169642876A>T	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.242A>T	3.37:g.169642876A>T	ENSP00000391299:p.Lys81Met					SAMD7_uc003fge.2_Missense_Mutation_p.K81M|SAMD7_uc011bpo.1_Translation_Start_Site	p.K81M	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		5	509	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		81						Missense_Mutation	SNP	ENST00000428432.2	37	c.242A>T	CCDS3209.1	.	.	.	.	.	.	.	.	.	.	A	18.62	3.663721	0.67700	.	.	ENSG00000187033	ENST00000428432;ENST00000335556	T;T	0.48201	0.82;0.82	5.38	3.02	0.34903	.	0.272713	0.33650	N	0.004692	T	0.51686	0.1689	L	0.57536	1.79	0.30442	N	0.776148	D	0.63046	0.992	P	0.52710	0.707	T	0.56426	-0.7981	10	0.87932	D	0	-13.383	8.3815	0.32474	0.8433:0.0:0.1567:0.0	.	81	Q7Z3H4	SAMD7_HUMAN	M	81	ENSP00000391299:K81M;ENSP00000334668:K81M	ENSP00000334668:K81M	K	+	2	0	SAMD7	171125570	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	3.815000	0.55651	0.446000	0.26666	0.460000	0.39030	AAG		0.343	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		5	66	0	0	0	0	5	66				
TNIK	23043	broad.mit.edu	37	3	170819325	170819325	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr3:170819325T>C	ENST00000436636.2	-	22	2848	c.2504A>G	c.(2503-2505)gAg>gGg	p.E835G	TNIK_ENST00000284483.8_Missense_Mutation_p.E827G|TNIK_ENST00000357327.5_Missense_Mutation_p.E806G|TNIK_ENST00000369326.5_Missense_Mutation_p.E813G|TNIK_ENST00000475336.1_Missense_Mutation_p.E743G|TNIK_ENST00000470834.1_Missense_Mutation_p.E798G|TNIK_ENST00000341852.6_Missense_Mutation_p.E751G|TNIK_ENST00000538048.1_Missense_Mutation_p.E787G|TNIK_ENST00000460047.1_Missense_Mutation_p.E772G|TNIK_ENST00000488470.1_Missense_Mutation_p.E780G	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	835	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			ACTTTCTGACTCCTCACTGGA	0.493																																						uc003fhh.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(2503-2505)GAG>GGG		TRAF2 and NCK interacting kinase isoform 1							270.0	267.0	268.0					3																	170819325		2090	4240	6330	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170819325T>C	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2504A>G	3.37:g.170819325T>C	ENSP00000399511:p.Glu835Gly					TNIK_uc003fhi.2_Missense_Mutation_p.E780G|TNIK_uc003fhj.2_Missense_Mutation_p.E806G|TNIK_uc003fhk.2_Missense_Mutation_p.E827G|TNIK_uc003fhl.2_Missense_Mutation_p.E751G|TNIK_uc003fhm.2_Missense_Mutation_p.E772G|TNIK_uc003fhn.2_Missense_Mutation_p.E798G|TNIK_uc003fho.2_Missense_Mutation_p.E743G|TNIK_uc003fhg.2_Missense_Mutation_p.E13G	p.E835G	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		22	2849	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		835			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.2504A>G	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.795690	0.50208	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	6.02	6.02	0.97574	.	0.102009	0.64402	D	0.000002	T	0.78329	0.4266	M	0.64997	1.995	0.58432	D	0.999999	B;B;B;B;B;B;B;B	0.31174	0.002;0.084;0.002;0.002;0.311;0.084;0.002;0.207	B;B;B;B;B;B;B;B	0.36808	0.003;0.128;0.003;0.003;0.233;0.128;0.003;0.082	T	0.75164	-0.3414	10	0.32370	T	0.25	.	16.542	0.84395	0.0:0.0:0.0:1.0	.	743;798;772;751;827;806;780;835	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	G	835;813;787;751;827;743;806;772;780;798	ENSP00000399511:E835G;ENSP00000358332:E813G;ENSP00000443278:E787G;ENSP00000345352:E751G;ENSP00000284483:E827G;ENSP00000418156:E743G;ENSP00000349880:E806G;ENSP00000418916:E772G;ENSP00000418378:E780G;ENSP00000419990:E798G	ENSP00000284483:E827G	E	-	2	0	TNIK	172302019	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.769000	0.68865	2.304000	0.77564	0.528000	0.53228	GAG		0.493	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		128	144	0	0	0	0	128	144				
JAKMIP1	152789	broad.mit.edu	37	4	6082004	6082004	+	Silent	SNP	C	C	T	rs376708264		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr4:6082004C>T	ENST00000282924.5	-	7	1622	c.1137G>A	c.(1135-1137)cgG>cgA	p.R379R	JAKMIP1_ENST00000410077.2_Silent_p.R214R|JAKMIP1_ENST00000409021.3_Silent_p.R379R|JAKMIP1_ENST00000409831.1_Silent_p.R379R|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409371.3_Silent_p.R214R	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	379	Mediates interaction with TYK2 and GABBR1.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGAGGTATGCCGCTTCAGAG	0.572																																						uc003giu.3		NA																	0				large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(1135-1137)CGG>CGA		janus kinase and microtubule interacting protein							86.0	71.0	76.0					4																	6082004		2203	4300	6503	SO:0001819	synonymous_variant	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6082004C>T	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1137G>A	4.37:g.6082004C>T						JAKMIP1_uc010idb.1_Silent_p.R379R|JAKMIP1_uc010idc.1_Silent_p.R214R|JAKMIP1_uc010idd.1_Silent_p.R379R|JAKMIP1_uc011bwc.1_Silent_p.R214R|JAKMIP1_uc003giv.3_Silent_p.R379R|JAKMIP1_uc010ide.2_Silent_p.R379R	p.R379R	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN			7	1413	-			379			Mediates interaction with TYK2 and GABBR1.|Potential.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	ENST00000282924.5	37	c.1137G>A	CCDS3385.1																																																																																				0.572	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		3	42	0	0	0	0	3	42				
TERT	7015	broad.mit.edu	37	5	1268652	1268652	+	Silent	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr5:1268652C>T	ENST00000310581.5	-	9	2622	c.2565G>A	c.(2563-2565)gcG>gcA	p.A855A	TERT_ENST00000508104.2_Missense_Mutation_p.G795R|TERT_ENST00000296820.5_Missense_Mutation_p.G795R|TERT_ENST00000334602.6_Silent_p.A855A	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	855	Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	GCCGAATCCCCGCAAACAGCT	0.602									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													uc003jcb.1		NA																	0				lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12						c.(2563-2565)GCG>GCA		telomerase reverse transcriptase isoform 1							54.0	51.0	52.0					5																	1268652		2203	4300	6503	SO:0001819	synonymous_variant	7015	TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1268652C>T	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.2565G>A	5.37:g.1268652C>T						TERT_uc003jbz.1_Silent_p.A51A|TERT_uc003jca.1_Silent_p.A843A|TERT_uc003jcc.1_Silent_p.A855A|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA	p.A855A	NM_198253	NP_937983	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		9	2623	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		855			Reverse transcriptase.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Silent	SNP	ENST00000310581.5	37	c.2565G>A	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	C	0.674	-0.800926	0.02841	.	.	ENSG00000164362	ENST00000296820;ENST00000508104	D;D	0.97041	-4.22;-4.22	4.26	-8.53	0.00916	.	.	.	.	.	D	0.91573	0.7338	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.80603	-0.1309	6	0.34782	T	0.22	-13.5265	2.1127	0.03707	0.4396:0.244:0.1771:0.1393	.	.	.	.	R	795	ENSP00000296820:G795R;ENSP00000426042:G795R	ENSP00000296820:G795R	G	-	1	0	TERT	1321652	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.058000	0.00624	-3.861000	0.00098	-2.776000	0.00119	GGG		0.602	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			5	43	0	0	0	0	5	43				
CDH9	1007	broad.mit.edu	37	5	26885961	26885961	+	Silent	SNP	T	T	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr5:26885961T>C	ENST00000231021.4	-	11	1816	c.1644A>G	c.(1642-1644)ggA>ggG	p.G548G		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	548	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)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GAGTCATGATTCCTGCTGTAT	0.328																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	0				ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(1642-1644)GGA>GGG		cadherin 9, type 2 preproprotein							57.0	59.0	59.0					5																	26885961		2203	4300	6503	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26885961T>C	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1644A>G	5.37:g.26885961T>C						CDH9_uc011cnv.1_Silent_p.G141G	p.G548G	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			11	1813	-			548			Extracellular (Potential).|Cadherin 5.		Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.1644A>G	CCDS3893.1																																																																																				0.328	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		3	82	0	0	0	0	3	82				
ADAMTS12	81792	broad.mit.edu	37	5	33637800	33637800	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr5:33637800C>A	ENST00000504830.1	-	12	2105	c.1770G>T	c.(1768-1770)ttG>ttT	p.L590F	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.L590F|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	590	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGACGTTGCACAAGCGATAGC	0.468										HNSCC(64;0.19)																												uc003jia.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(1768-1770)TTG>TTT		ADAM metallopeptidase with thrombospondin type 1							138.0	127.0	131.0					5																	33637800		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33637800C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1770G>T	5.37:g.33637800C>A	ENSP00000422554:p.Leu590Phe	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.L590F	p.L590F	NM_030955	NP_112217	P58397	ATS12_HUMAN			12	1933	-			590			TSP type-1 1.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.1770G>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893190	0.72524	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.03580	3.88;3.88	6.06	4.27	0.50696	.	0.262432	0.38778	N	0.001575	T	0.12092	0.0294	L	0.60957	1.885	0.80722	D	1	D;D	0.63880	0.993;0.993	P;D	0.69142	0.865;0.962	T	0.00899	-1.1522	10	0.49607	T	0.09	.	9.2524	0.37562	0.0:0.7809:0.0:0.2191	.	590;590	P58397-3;P58397	.;ATS12_HUMAN	F	590	ENSP00000422554:L590F;ENSP00000344847:L590F	ENSP00000344847:L590F	L	-	3	2	ADAMTS12	33673557	0.983000	0.35010	1.000000	0.80357	0.991000	0.79684	0.206000	0.17375	0.870000	0.35726	0.650000	0.86243	TTG		0.468	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		20	48	1	0	4.35e-09	5.21e-09	20	48				
HSPB3	8988	broad.mit.edu	37	5	53751689	53751689	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr5:53751689G>A	ENST00000302005.1	+	1	245	c.70G>A	c.(70-72)Ggt>Agt	p.G24S		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	24					cell death (GO:0008219)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				TGAAGCTCGAGGTCTAGAAGA	0.507																																						uc003jph.1		NA																	0					0						c.(70-72)GGT>AGT		heat shock 27kDa protein 3							91.0	90.0	90.0					5																	53751689		2203	4300	6503	SO:0001583	missense	8988				cell death|response to heat|response to unfolded protein	cytoplasm|nucleus		g.chr5:53751689G>A	Y17782	CCDS3961.1	5q11.2	2011-09-02	2002-08-29		ENSG00000169271	ENSG00000169271		"""Heat shock proteins / HSPB"""	5248	protein-coding gene	gene with protein product		604624	"""heat shock 27kD protein 3"""			8972725, 9858786	Standard	NM_006308		Approved	HSPL27	uc003jph.2	Q12988	OTTHUMG00000096995	ENST00000302005.1:c.70G>A	5.37:g.53751689G>A	ENSP00000303394:p.Gly24Ser						p.G24S	NM_006308	NP_006299	Q12988	HSPB3_HUMAN			1	245	+		Lung NSC(810;0.00104)	24						Missense_Mutation	SNP	ENST00000302005.1	37	c.70G>A	CCDS3961.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171927	0.57584	.	.	ENSG00000169271	ENST00000302005	D	0.91011	-2.77	6.03	5.16	0.70880	.	0.278938	0.34411	N	0.003994	D	0.87277	0.6137	L	0.42744	1.35	0.31526	N	0.661807	B	0.22414	0.069	B	0.23275	0.045	D	0.86107	0.1560	10	0.59425	D	0.04	-20.4497	14.7365	0.69419	0.0686:0.0:0.9314:0.0	.	24	Q12988	HSPB3_HUMAN	S	24	ENSP00000303394:G24S	ENSP00000303394:G24S	G	+	1	0	HSPB3	53787446	1.000000	0.71417	0.979000	0.43373	0.743000	0.42351	3.872000	0.56085	2.854000	0.98071	0.655000	0.94253	GGT		0.507	HSPB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214074.2			8	91	0	0	0	0	8	91				
PDE8B	8622	broad.mit.edu	37	5	76624877	76624877	+	Silent	SNP	G	G	T	rs142671242		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr5:76624877G>T	ENST00000264917.5	+	4	690	c.645G>T	c.(643-645)tcG>tcT	p.S215S	PDE8B_ENST00000342343.4_Silent_p.S195S|PDE8B_ENST00000340978.3_Silent_p.S215S|PDE8B_ENST00000346042.3_Silent_p.S215S|PDE8B_ENST00000333194.4_Silent_p.S215S	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	215					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	CAGTGGTTTCGCGAGTGTAAG	0.488																																						uc003kfa.2		NA																	0					0						c.(643-645)TCG>TCT		phosphodiesterase 8B isoform 1							123.0	93.0	103.0					5																	76624877		2203	4300	6503	SO:0001819	synonymous_variant	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76624877G>T	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.645G>T	5.37:g.76624877G>T						PDE8B_uc003kfb.2_Silent_p.S195S|PDE8B_uc003kfc.2_Silent_p.S215S|PDE8B_uc003kfd.2_Silent_p.S215S|PDE8B_uc003kfe.2_Silent_p.S215S	p.S215S	NM_003719	NP_003710	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	4	690	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	215					Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Silent	SNP	ENST00000264917.5	37	c.645G>T	CCDS4037.1																																																																																				0.488	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		14	12	1	0	9.05e-12	1.13e-11	14	12				
GDF9	2661	broad.mit.edu	37	5	132197721	132197721	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr5:132197721C>T	ENST00000378673.2	-	3	1791	c.925G>A	c.(925-927)Gat>Aat	p.D309N	GDF9_ENST00000464378.1_5'Flank|GDF9_ENST00000296875.2_Missense_Mutation_p.D309N			O60383	GDF9_HUMAN	growth differentiation factor 9	309					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GATCTCCCATCCTCAGCAGCC	0.522																																						uc003kxz.1		NA																	0				skin(1)	1						c.(925-927)GAT>AAT		growth differentiation factor 9 precursor							49.0	50.0	50.0					5																	132197721		2203	4300	6503	SO:0001583	missense	2661				female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr5:132197721C>T		CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"""Endogenous ligands"""	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.925G>A	5.37:g.132197721C>T	ENSP00000367942:p.Asp309Asn					GDF9_uc011cxj.1_Missense_Mutation_p.D221N	p.D309N	NM_005260	NP_005251	O60383	GDF9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	1177	-		all_cancers(142;0.105)|Breast(839;0.198)	309					Q4VAW5	Missense_Mutation	SNP	ENST00000378673.2	37	c.925G>A	CCDS4162.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.712948	0.30413	.	.	ENSG00000164404	ENST00000378673;ENST00000296875	T;T	0.80033	-1.33;-1.33	5.38	0.21	0.15231	.	0.968817	0.08538	N	0.931059	T	0.67988	0.2952	L	0.43152	1.355	0.09310	N	1	B	0.21905	0.062	B	0.22601	0.04	T	0.48917	-0.8992	10	0.16420	T	0.52	.	2.9128	0.05743	0.1802:0.5308:0.0984:0.1906	.	309	O60383	GDF9_HUMAN	N	309	ENSP00000367942:D309N;ENSP00000296875:D309N	ENSP00000296875:D309N	D	-	1	0	GDF9	132225620	0.002000	0.14202	0.000000	0.03702	0.373000	0.29922	0.956000	0.29202	0.090000	0.17273	0.644000	0.83932	GAT		0.522	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133060.2	NM_005260		14	35	0	0	0	0	14	35				
SEC24A	10802	broad.mit.edu	37	5	134033663	134033663	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr5:134033663G>A	ENST00000398844.2	+	15	2470	c.2182G>A	c.(2182-2184)Gta>Ata	p.V728I		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	728					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCAGTCCAAGTACAGAAATT	0.413																																						uc003kzs.2		NA																	0					0						c.(2182-2184)GTA>ATA		SEC24 related gene family, member A							207.0	194.0	198.0					5																	134033663		1943	4140	6083	SO:0001583	missense	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:134033663G>A	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.2182G>A	5.37:g.134033663G>A	ENSP00000381823:p.Val728Ile					SEC24A_uc011cxu.1_Missense_Mutation_p.V492I	p.V728I	NM_021982	NP_068817	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		15	2470	+			728					A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	c.2182G>A	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738127	0.69304	.	.	ENSG00000113615	ENST00000398844	T	0.74421	-0.84	5.36	5.36	0.76844	Sec23/Sec24, trunk domain (1);	0.056323	0.64402	D	0.000001	T	0.71484	0.3345	L	0.45051	1.395	0.80722	D	1	B;P	0.38335	0.225;0.627	B;B	0.42062	0.154;0.374	T	0.67007	-0.5779	10	0.18276	T	0.48	-13.3572	19.0833	0.93192	0.0:0.0:1.0:0.0	.	492;728	B4E205;O95486	.;SC24A_HUMAN	I	728	ENSP00000381823:V728I	ENSP00000381823:V728I	V	+	1	0	SEC24A	134061562	1.000000	0.71417	0.993000	0.49108	0.922000	0.55478	6.492000	0.73654	2.520000	0.84964	0.467000	0.42956	GTA		0.413	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			4	136	0	0	0	0	4	136				
RANBP9	10048	broad.mit.edu	37	6	13642754	13642754	+	Silent	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr6:13642754G>A	ENST00000011619.3	-	7	1240	c.1182C>T	c.(1180-1182)gaC>gaT	p.D394D	RANBP9_ENST00000539980.1_Silent_p.D165D	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	394	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			GAACGGTCTGGTCTGTAGATC	0.373																																						uc003nbb.2		NA																	0				lung(1)|skin(1)	2						c.(1180-1182)GAC>GAT		RAN binding protein 9							104.0	99.0	100.0					6																	13642754		2203	4300	6503	SO:0001819	synonymous_variant	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13642754G>A	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"""Ran Binding Protein in the Microtubule organizing center"""	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.1182C>T	6.37:g.13642754G>A						RANBP9_uc003nba.2_Silent_p.D53D	p.D394D	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		7	1241	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	394			LisH.		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Silent	SNP	ENST00000011619.3	37	c.1182C>T	CCDS4529.1																																																																																				0.373	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			15	38	0	0	0	0	15	38				
NUP153	9972	broad.mit.edu	37	6	17649453	17649453	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr6:17649453G>A	ENST00000262077.2	-	12	1473	c.1474C>T	c.(1474-1476)Cct>Tct	p.P492S	NUP153_ENST00000537253.1_Missense_Mutation_p.P523S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	492					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GTGATCTCAGGGGAACTAAAA	0.373																																						uc003ncd.1		NA																	0				lung(4)|ovary(2)|breast(2)|skin(1)	9						c.(1474-1476)CCT>TCT		nucleoporin 153kDa							201.0	194.0	196.0					6																	17649453		2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17649453G>A	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.1474C>T	6.37:g.17649453G>A	ENSP00000262077:p.Pro492Ser					NUP153_uc011dje.1_Missense_Mutation_p.P523S|NUP153_uc010jpl.1_Missense_Mutation_p.P492S	p.P492S	NM_005124	NP_005115	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		12	1674	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	492					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.1474C>T	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	G	7.068	0.567678	0.13560	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.31769	1.48;1.48	5.48	2.33	0.28932	Nucleoporin, Nup153-like (1);	0.149809	0.30911	N	0.008622	T	0.05456	0.0144	L	0.28694	0.88	0.09310	N	0.999993	B;B;B	0.20261	0.007;0.043;0.002	B;B;B	0.19148	0.003;0.024;0.005	T	0.43245	-0.9403	10	0.02654	T	1	-4.1346	10.41	0.44287	0.1564:0.0:0.8436:0.0	.	523;514;492	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	S	492;514;523	ENSP00000262077:P492S;ENSP00000444029:P523S	ENSP00000262077:P492S	P	-	1	0	NUP153	17757432	0.243000	0.23878	0.245000	0.24217	0.550000	0.35303	0.820000	0.27323	0.224000	0.20940	0.591000	0.81541	CCT		0.373	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			21	53	0	0	0	0	21	53				
ZBTB9	221504	broad.mit.edu	37	6	33423586	33423586	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr6:33423586C>T	ENST00000395064.2	+	2	977	c.709C>T	c.(709-711)Ccc>Tcc	p.P237S		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	237	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						GACTCCTCAGCCCCAGAGAGT	0.562																																						uc003oeq.2		NA																	0					0						c.(709-711)CCC>TCC		zinc finger and BTB domain containing 9							60.0	59.0	60.0					6																	33423586		2203	4300	6503	SO:0001583	missense	221504				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33423586C>T	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.709C>T	6.37:g.33423586C>T	ENSP00000378503:p.Pro237Ser						p.P237S	NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN			2	977	+			237			Pro-rich.		A2AB19	Missense_Mutation	SNP	ENST00000395064.2	37	c.709C>T	CCDS4780.1	.	.	.	.	.	.	.	.	.	.	C	4.759	0.141141	0.09083	.	.	ENSG00000213588	ENST00000395064	T	0.05996	3.36	5.4	1.38	0.22167	.	1.796390	0.04304	N	0.347870	T	0.00906	0.0030	N	0.17082	0.46	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.32428	-0.9907	10	0.02654	T	1	.	5.595	0.17321	0.1488:0.6027:0.0:0.2485	.	237	Q96C00	ZBTB9_HUMAN	S	237	ENSP00000378503:P237S	ENSP00000378503:P237S	P	+	1	0	ZBTB9	33531564	0.001000	0.12720	0.293000	0.24932	0.955000	0.61496	0.444000	0.21661	0.429000	0.26202	-0.140000	0.14226	CCC		0.562	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735		22	29	0	0	0	0	22	29				
TCTE1	202500	broad.mit.edu	37	6	44247986	44247986	+	Missense_Mutation	SNP	G	G	A	rs370339969		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr6:44247986G>A	ENST00000371505.4	-	5	1560	c.1438C>T	c.(1438-1440)Cgg>Tgg	p.R480W	RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371504.1_Missense_Mutation_p.R177W|TCTE1_ENST00000371503.3_Missense_Mutation_p.R177W|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	480								p.R480W(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTCAGGGCCCGCTGGCGGGCT	0.577																																						uc003oxi.2		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(2)|skin(2)	4						c.(1438-1440)CGG>TGG		t-complex-associated testis expressed 1		G	TRP/ARG	0,4406		0,0,2203	82.0	92.0	88.0		1438	3.2	1.0	6		88	1,8599	1.2+/-3.3	0,1,4299	no	missense	TCTE1	NM_182539.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	480/502	44247986	1,13005	2203	4300	6503	SO:0001583	missense	202500							g.chr6:44247986G>A	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.1438C>T	6.37:g.44247986G>A	ENSP00000360560:p.Arg480Trp					SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	p.R480W	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		5	1594	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		480					B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	c.1438C>T	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881660	0.72294	0.0	1.16E-4	ENSG00000146221	ENST00000371505;ENST00000371503;ENST00000371504	T;T;T	0.52057	1.79;0.68;0.68	5.17	3.23	0.37069	.	0.601209	0.15887	N	0.239760	T	0.39436	0.1078	L	0.44542	1.39	0.21416	N	0.999693	D	0.76494	0.999	P	0.56088	0.791	T	0.16041	-1.0416	10	0.87932	D	0	-19.7731	12.1453	0.54020	0.0:0.0:0.5877:0.4123	.	480	Q5JU00	TCTE1_HUMAN	W	480;177;177	ENSP00000360560:R480W;ENSP00000360558:R177W;ENSP00000360559:R177W	ENSP00000360558:R177W	R	-	1	2	TCTE1	44355964	0.093000	0.21703	0.994000	0.49952	0.997000	0.91878	0.364000	0.20325	1.302000	0.44855	0.563000	0.77884	CGG		0.577	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		6	62	0	0	0	0	6	62				
BAI3	577	broad.mit.edu	37	6	70071099	70071099	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr6:70071099C>T	ENST00000370598.1	+	29	4755	c.3934C>T	c.(3934-3936)Ccc>Tcc	p.P1312S	BAI3_ENST00000546190.1_Missense_Mutation_p.P276S|BAI3_ENST00000238918.8_Missense_Mutation_p.P518S	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1312					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)				TATTGTGATGCCCAGAAGTTC	0.398																																						uc003pev.3		NA																	0				lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(3934-3936)CCC>TCC		brain-specific angiogenesis inhibitor 3							60.0	57.0	58.0					6																	70071099		2203	4299	6502	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70071099C>T	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.3934C>T	6.37:g.70071099C>T	ENSP00000359630:p.Pro1312Ser					BAI3_uc010kak.2_Missense_Mutation_p.P1312S|BAI3_uc011dxx.1_Missense_Mutation_p.P518S	p.P1312S	NM_001704	NP_001695	O60242	BAI3_HUMAN			29	4382	+		all_lung(197;0.212)	1312			Cytoplasmic (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.3934C>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438529	0.83885	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.05786	3.39;3.39;3.39	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.83275	0.979;0.996	T	0.00458	-1.1727	10	0.87932	D	0	.	19.9265	0.97104	0.0:1.0:0.0:0.0	.	518;1312	B7Z356;O60242	.;BAI3_HUMAN	S	1312;518;276	ENSP00000359630:P1312S;ENSP00000238918:P518S;ENSP00000441821:P276S	ENSP00000238918:P518S	P	+	1	0	BAI3	70127820	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.294000	0.78760	2.723000	0.93209	0.591000	0.81541	CCC		0.398	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			10	36	0	0	0	0	10	36				
RIMS1	22999	broad.mit.edu	37	6	72960961	72960961	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr6:72960961A>T	ENST00000521978.1	+	15	2588	c.2588A>T	c.(2587-2589)cAt>cTt	p.H863L	RIMS1_ENST00000522291.1_Missense_Mutation_p.H863L|RIMS1_ENST00000348717.5_Missense_Mutation_p.H863L|RIMS1_ENST00000491071.2_Missense_Mutation_p.H863L|RIMS1_ENST00000538414.1_5'Flank|RIMS1_ENST00000518273.1_Missense_Mutation_p.H863L|RIMS1_ENST00000425662.2_Missense_Mutation_p.H256L|RIMS1_ENST00000264839.7_Missense_Mutation_p.H863L|RIMS1_ENST00000517960.1_Missense_Mutation_p.H863L|RIMS1_ENST00000523963.1_Missense_Mutation_p.H337L|RIMS1_ENST00000401910.3_Missense_Mutation_p.H337L|RIMS1_ENST00000520567.1_Missense_Mutation_p.H863L|RIMS1_ENST00000517827.1_Missense_Mutation_p.H322L	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	863					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GATGAACCGCATTGGTATAAA	0.393																																						uc003pga.2		NA																	0				ovary(7)|pancreas(2)|breast(1)	10						c.(2587-2589)CAT>CTT		regulating synaptic membrane exocytosis 1							64.0	60.0	61.0					6																	72960961		1966	4163	6129	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72960961A>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2588A>T	6.37:g.72960961A>T	ENSP00000428417:p.His863Leu					RIMS1_uc011dyb.1_Missense_Mutation_p.H489L|RIMS1_uc003pgc.2_Missense_Mutation_p.H489L|RIMS1_uc010kaq.2_Missense_Mutation_p.H337L|RIMS1_uc011dyc.1_Missense_Mutation_p.H337L|RIMS1_uc010kar.2_Missense_Mutation_p.H256L|RIMS1_uc011dyd.1_Missense_Mutation_p.H322L|RIMS1_uc003pgf.2_Missense_Mutation_p.H80L|RIMS1_uc003pgg.2_Missense_Mutation_p.H80L|RIMS1_uc003pgi.2_Missense_Mutation_p.H80L|RIMS1_uc003pgh.2_Missense_Mutation_p.H80L|RIMS1_uc003pgd.2_Missense_Mutation_p.H80L|RIMS1_uc003pge.2_Missense_Mutation_p.H80L|RIMS1_uc011dye.1_5'Flank|RIMS1_uc003pgb.3_Missense_Mutation_p.H489L|RIMS1_uc010kas.1_Missense_Mutation_p.H322L	p.H863L	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			15	2665	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	863					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.2588A>T	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.435680	0.83885	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95	5.55	5.55	0.83447	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.076014	0.53938	D	0.000047	T	0.79873	0.4521	L	0.54323	1.7	0.80722	D	1	B;D;P;P;P;P;D;D;P;B;B;D	0.64830	0.102;0.98;0.491;0.814;0.757;0.937;0.994;0.986;0.902;0.305;0.414;0.964	B;D;B;P;P;P;D;P;P;B;B;P	0.73708	0.11;0.943;0.188;0.658;0.457;0.785;0.981;0.879;0.86;0.245;0.132;0.854	T	0.82682	-0.0336	10	0.72032	D	0.01	-13.0473	15.6673	0.77238	1.0:0.0:0.0:0.0	.	322;337;863;322;337;863;116;863;863;116;863;863	B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5	.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN	L	863;863;863;863;863;863;863;863;863;863;863;863;337;337;256;256;322;88	ENSP00000430101:H863L;ENSP00000275037:H863L;ENSP00000264839:H863L;ENSP00000429959:H863L;ENSP00000430408:H863L;ENSP00000430502:H863L;ENSP00000430932:H863L;ENSP00000428417:H863L;ENSP00000385649:H337L;ENSP00000428328:H337L;ENSP00000411235:H256L;ENSP00000389503:H256L;ENSP00000428367:H322L;ENSP00000359448:H88L	ENSP00000264839:H863L	H	+	2	0	RIMS1	73017682	1.000000	0.71417	0.860000	0.33809	0.784000	0.44337	9.298000	0.96132	2.093000	0.63338	0.477000	0.44152	CAT		0.393	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			4	7	0	0	0	0	4	7				
SYNE1	23345	broad.mit.edu	37	6	152554995	152554995	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr6:152554995C>A	ENST00000367255.5	-	112	21234	c.20633G>T	c.(20632-20634)cGc>cTc	p.R6878L	SYNE1_ENST00000423061.1_Missense_Mutation_p.R6807L|SYNE1_ENST00000265368.4_Missense_Mutation_p.R6878L|SYNE1_ENST00000356820.4_Missense_Mutation_p.R1402L|SYNE1_ENST00000448038.1_Missense_Mutation_p.R6807L|SYNE1_ENST00000341594.5_Missense_Mutation_p.R6490L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6878					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGCTCAGAGCGCAGCGTGGC	0.498										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(20632-20634)CGC>CTC		spectrin repeat containing, nuclear envelope 1							86.0	77.0	80.0					6																	152554995		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152554995C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.20633G>T	6.37:g.152554995C>A	ENSP00000356224:p.Arg6878Leu	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.R1402L|SYNE1_uc003qos.3_Missense_Mutation_p.R1402L|SYNE1_uc003qot.3_Missense_Mutation_p.R6807L|SYNE1_uc003qou.3_Missense_Mutation_p.R6878L	p.R6878L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	112	21235	-		Ovarian(120;0.0955)	6878			Spectrin 21.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.20633G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	32	5.117959	0.94385	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000010	T	0.68805	0.3041	M	0.80847	2.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.70615	-0.4823	10	0.72032	D	0.01	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	6878;6878;6807	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	L	6878;6807;6878;6807;6490;1402	ENSP00000356224:R6878L;ENSP00000396024:R6807L;ENSP00000265368:R6878L;ENSP00000390975:R6807L;ENSP00000341887:R6490L;ENSP00000349276:R1402L	ENSP00000265368:R6878L	R	-	2	0	SYNE1	152596688	1.000000	0.71417	0.988000	0.46212	0.648000	0.38561	7.487000	0.81328	2.826000	0.97356	0.655000	0.94253	CGC		0.498	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		17	34	1	0	9.17e-09	1.09e-08	17	34				
LPA	4018	broad.mit.edu	37	6	160969605	160969605	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr6:160969605T>A	ENST00000316300.5	-	31	5104	c.5060A>T	c.(5059-5061)tAc>tTc	p.Y1687F	LPA_ENST00000447678.1_Missense_Mutation_p.Y1687F			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4195	Kringle 15. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CAGGTTGCAGTACTCCCACCT	0.537																																						uc003qtl.2		NA																	0				ovary(3)|skin(2)|pancreas(1)	6						c.(5059-5061)TAC>TTC		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						87.0	94.0	91.0					6																	160969605		2203	4300	6503	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160969605T>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5060A>T	6.37:g.160969605T>A	ENSP00000321334:p.Tyr1687Phe						p.Y1687F	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	32	5180	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4195			Kringle 37.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.5060A>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	t	13.17	2.158295	0.38119	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.64991	-0.13;-0.13	2.71	1.48	0.22813	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.50888	0.1642	L	0.53561	1.675	0.38319	D	0.943463	B	0.27910	0.193	P	0.49683	0.619	T	0.49560	-0.8927	9	0.17369	T	0.5	.	7.2242	0.26005	0.2794:0.0:0.0:0.7206	.	4195	P08519	APOA_HUMAN	F	1687	ENSP00000321334:Y1687F;ENSP00000395608:Y1687F	ENSP00000321334:Y1687F	Y	-	2	0	LPA	160889595	1.000000	0.71417	0.988000	0.46212	0.561000	0.35649	0.632000	0.24583	0.242000	0.21303	0.358000	0.22013	TAC		0.537	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		20	48	0	0	0	0	20	48				
CYP2W1	54905	broad.mit.edu	37	7	1027134	1027134	+	Silent	SNP	C	C	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr7:1027134C>G	ENST00000308919.7	+	7	1123	c.1110C>G	c.(1108-1110)gcC>gcG	p.A370A	CYP2W1_ENST00000340150.6_Silent_p.A314A	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	370					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GCACCGCGGCCGACACACAGC	0.711																																						uc003sjq.1		NA																	0					0						c.(1108-1110)GCC>GCG		cytochrome P450, family 2, subfamily W,							4.0	5.0	5.0					7																	1027134		1972	3975	5947	SO:0001819	synonymous_variant	54905				xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr7:1027134C>G	AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"""Cytochrome P450s"""	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.1110C>G	7.37:g.1027134C>G						CYP2W1_uc003sjr.1_Silent_p.A370A	p.A370A	NM_017781	NP_060251	Q8TAV3	CP2W1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)	7	1123	+		Ovarian(82;0.0112)	370						Silent	SNP	ENST00000308919.7	37	c.1110C>G	CCDS5319.2																																																																																				0.711	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157249.1	NM_017781		3	1	0	0	0	0	3	1				
AMPH	273	broad.mit.edu	37	7	38433623	38433623	+	Silent	SNP	G	G	T	rs201328417		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr7:38433623G>T	ENST00000356264.2	-	18	1805	c.1590C>A	c.(1588-1590)ctC>ctA	p.L530L	AMPH_ENST00000325590.5_Silent_p.L488L|AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000428293.2_Silent_p.L488L	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	530					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CTGTTGCTTCGAGCTCCTCTG	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		20018	0.001		0.0	False		,,,				2504	0.0					uc003tgu.2		NA																	0				ovary(3)|liver(1)|skin(1)	5						c.(1588-1590)CTC>CTA		amphiphysin isoform 1							142.0	116.0	125.0					7																	38433623		2203	4300	6503	SO:0001819	synonymous_variant	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38433623G>T		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1590C>A	7.37:g.38433623G>T						AMPH_uc003tgv.2_Silent_p.L488L|AMPH_uc003tgt.2_Silent_p.L415L|AMPH_uc003tgw.1_Silent_p.L553L|AMPH_uc010kxl.1_RNA	p.L530L	NM_001635	NP_001626	P49418	AMPH_HUMAN			18	1659	-			530					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Silent	SNP	ENST00000356264.2	37	c.1590C>A	CCDS5456.1																																																																																				0.562	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		40	61	1	0	1.59e-14	2.02e-14	40	61				
ZNF804B	219578	broad.mit.edu	37	7	88963462	88963462	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr7:88963462C>T	ENST00000333190.4	+	4	1775	c.1166C>T	c.(1165-1167)tCa>tTa	p.S389L		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	389							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GAGTTTTCATCACTGGAGCCA	0.393										HNSCC(36;0.09)																												uc011khi.1		NA																	0				ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(1165-1167)TCA>TTA		zinc finger protein 804B							46.0	52.0	50.0					7																	88963462		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963462C>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1166C>T	7.37:g.88963462C>T	ENSP00000329638:p.Ser389Leu	HNSCC(36;0.09)					p.S389L	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1704	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		389					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.1166C>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	5.084	0.201125	0.09652	.	.	ENSG00000182348	ENST00000333190	T	0.05513	3.43	5.19	3.39	0.38822	.	0.607145	0.14817	N	0.296707	T	0.06600	0.0169	L	0.54323	1.7	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.37430	-0.9706	10	0.56958	D	0.05	-2.6146	2.0574	0.03584	0.1452:0.4618:0.2245:0.1686	.	389	A4D1E1	Z804B_HUMAN	L	389	ENSP00000329638:S389L	ENSP00000329638:S389L	S	+	2	0	ZNF804B	88801398	0.000000	0.05858	0.140000	0.22221	0.477000	0.33069	0.036000	0.13819	0.785000	0.33685	0.655000	0.94253	TCA		0.393	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		10	44	0	0	0	0	10	44				
SERPINE1	5054	broad.mit.edu	37	7	100778862	100778862	+	Silent	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr7:100778862C>T	ENST00000223095.4	+	6	1144	c.987C>T	c.(985-987)ttC>ttT	p.F329F	SERPINE1_ENST00000445463.2_Silent_p.F314F	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	329					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	AGGCTGACTTCACGAGTCTTT	0.527																																						uc003uxt.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(985-987)TTC>TTT		plasminogen activator inhibitor-1 isoform 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						87.0	84.0	85.0					7																	100778862		2203	4300	6503	SO:0001819	synonymous_variant	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100778862C>T	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.987C>T	7.37:g.100778862C>T						SERPINE1_uc011kkj.1_Silent_p.F314F|SERPINE1_uc003uxu.1_3'UTR	p.F329F	NM_000602	NP_000593	P05121	PAI1_HUMAN			6	1135	+	Lung NSC(181;0.136)|all_lung(186;0.182)		329					B7Z4S0|F8WD53	Silent	SNP	ENST00000223095.4	37	c.987C>T	CCDS5711.1																																																																																				0.527	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		33	68	0	0	0	0	33	68				
CHD7	55636	broad.mit.edu	37	8	61655163	61655163	+	Missense_Mutation	SNP	C	C	T	rs191435594		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr8:61655163C>T	ENST00000423902.2	+	2	1651	c.1172C>T	c.(1171-1173)gCc>gTc	p.A391V	CHD7_ENST00000525508.1_Missense_Mutation_p.A391V|CHD7_ENST00000524602.1_Missense_Mutation_p.A391V	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	391	Pro-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGAACTTATGCCTCTCCACCT	0.522																																						uc003xue.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(1171-1173)GCC>GTC		chromodomain helicase DNA binding protein 7							106.0	108.0	107.0					8																	61655163		2130	4232	6362	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61655163C>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.1172C>T	8.37:g.61655163C>T	ENSP00000392028:p.Ala391Val						p.A391V	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		2	1649	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	391			Pro-rich.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.1172C>T	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673538	0.47781	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602;ENST00000525508	D;T;T	0.82255	-1.59;1.86;-1.15	5.67	4.8	0.61643	.	0.167888	0.28630	N	0.014676	T	0.73598	0.3607	L	0.34521	1.04	0.38360	D	0.944594	B	0.02656	0.0	B	0.04013	0.001	T	0.69117	-0.5230	10	0.25751	T	0.34	-12.005	11.7037	0.51585	0.0:0.8584:0.0:0.1416	.	391	Q9P2D1	CHD7_HUMAN	V	391	ENSP00000392028:A391V;ENSP00000437061:A391V;ENSP00000436027:A391V	ENSP00000307304:A391V	A	+	2	0	CHD7	61817717	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	2.217000	0.42880	1.423000	0.47198	-0.140000	0.14226	GCC		0.522	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		19	49	0	0	0	0	19	49				
XKR9	389668	broad.mit.edu	37	8	71619348	71619348	+	Silent	SNP	C	C	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr8:71619348C>G	ENST00000408926.3	+	4	987	c.453C>G	c.(451-453)ctC>ctG	p.L151L	XKR9_ENST00000520030.1_Silent_p.L151L|XKR9_ENST00000520273.1_3'UTR	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	151						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TTCTTCAACTCTACATTCTTC	0.393																																						uc003xyq.2		NA																	0				ovary(1)|skin(1)	2						c.(451-453)CTC>CTG		XK, Kell blood group complex subunit-related							152.0	140.0	144.0					8																	71619348		2203	4300	6503	SO:0001819	synonymous_variant	389668					integral to membrane		g.chr8:71619348C>G	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.453C>G	8.37:g.71619348C>G						XKR9_uc010lze.2_Silent_p.L151L|XKR9_uc010lzd.2_Silent_p.L19L	p.L151L	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		4	987	+	Breast(64;0.0716)		151					B2RNS9|B9EH74	Silent	SNP	ENST00000408926.3	37	c.453C>G	CCDS34905.1																																																																																				0.393	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		3	70	0	0	0	0	3	70				
TERF1	7013	broad.mit.edu	37	8	73942569	73942569	+	Splice_Site	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr8:73942569A>G	ENST00000276603.5	+	7	910		c.e7-1		TERF1_ENST00000276602.6_Intron	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1						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)			CTTCTTTTAAAGTGTTAGTGA	0.299																																						uc003xzd.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.e7-2		telomeric repeat binding factor 1 isoform 1							84.0	78.0	80.0					8																	73942569		2203	4299	6502	SO:0001630	splice_region_variant	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.chr8:73942569A>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.888-1A>G	8.37:g.73942569A>G						TERF1_uc003xze.2_Intron	p.S296_splice	NM_017489	NP_059523	P54274	TERF1_HUMAN	Epithelial(68;0.0984)		7	913	+	Breast(64;0.218)							A7XP29|Q15553|Q8NHT6|Q93029	Splice_Site	SNP	ENST00000276603.5	37	c.888_splice	CCDS6211.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.098479	0.56183	.	.	ENSG00000147601	ENST00000276603	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.892	0.47000	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TERF1	74105123	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.855000	0.55957	2.129000	0.65627	0.528000	0.53228	.		0.299	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379093.1	NM_017489	Intron	4	18	0	0	0	0	4	18				
NCALD	83988	broad.mit.edu	37	8	102731518	102731518	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr8:102731518C>A	ENST00000311028.3	-	5	718	c.340G>T	c.(340-342)Ggc>Tgc	p.G114C	NCALD_ENST00000521599.1_Missense_Mutation_p.G114C|NCALD_ENST00000395923.1_Missense_Mutation_p.G114C|NCALD_ENST00000220931.6_Missense_Mutation_p.G114C|NCALD_ENST00000522951.1_Missense_Mutation_p.G114C|NCALD_ENST00000519508.2_Missense_Mutation_p.G114C	NM_001040624.1|NM_001040626.1	NP_001035714.1|NP_001035716.1	P61601	NCALD_HUMAN	neurocalcin delta	114	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium-mediated signaling (GO:0019722)|regulation of systemic arterial blood pressure (GO:0003073)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	clathrin coat of trans-Golgi network vesicle (GO:0030130)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			CTGATATAGCCATTTCCGTCC	0.468																																						uc003yke.2		NA																	0					0						c.(340-342)GGC>TGC		neurocalcin delta							129.0	121.0	124.0					8																	102731518		2203	4300	6503	SO:0001583	missense	83988				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding	g.chr8:102731518C>A	AF052142	CCDS6292.1	8q22.3	2014-08-12			ENSG00000104490	ENSG00000104490		"""EF-hand domain containing"""	7655	protein-coding gene	gene with protein product		606722				11267673	Standard	XM_006716672		Approved		uc003ykk.3	P61601	OTTHUMG00000164876	ENST00000311028.3:c.340G>T	8.37:g.102731518C>A	ENSP00000310587:p.Gly114Cys					NCALD_uc003ykf.2_Missense_Mutation_p.G114C|NCALD_uc003ykg.2_Missense_Mutation_p.G114C|NCALD_uc003ykh.2_Missense_Mutation_p.G114C|NCALD_uc003yki.2_Missense_Mutation_p.G114C|NCALD_uc003ykj.2_Missense_Mutation_p.G114C|NCALD_uc003ykk.2_Missense_Mutation_p.G114C|NCALD_uc003ykl.2_Missense_Mutation_p.G114C	p.G114C	NM_032041	NP_114430	P61601	NCALD_HUMAN	all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)		2	709	-	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		114			EF-hand 3.|2 (Potential).		P29554|Q8IYC3|Q9H0W2	Missense_Mutation	SNP	ENST00000311028.3	37	c.340G>T	CCDS6292.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181434	0.78677	.	.	ENSG00000104490	ENST00000395923;ENST00000311028;ENST00000220931;ENST00000521599;ENST00000519508;ENST00000522951;ENST00000522448;ENST00000520690;ENST00000518727;ENST00000520425;ENST00000518166	D;D;D;D;D;D;D;D;D;D;D	0.90324	-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-2.65;-2.65;-2.65;-2.0;-1.69	5.13	5.13	0.70059	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.97679	0.9239	H	0.99225	4.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99802	1.1036	10	0.87932	D	0	.	18.5707	0.91135	0.0:1.0:0.0:0.0	.	114	P61601	NCALD_HUMAN	C	114	ENSP00000379256:G114C;ENSP00000310587:G114C;ENSP00000220931:G114C;ENSP00000428105:G114C;ENSP00000430476:G114C;ENSP00000428781:G114C;ENSP00000429466:G114C;ENSP00000429255:G114C;ENSP00000430731:G114C;ENSP00000430925:G114C;ENSP00000429522:G114C	ENSP00000220931:G114C	G	-	1	0	NCALD	102800694	1.000000	0.71417	0.970000	0.41538	0.632000	0.37999	7.731000	0.84895	2.359000	0.80004	0.557000	0.71058	GGC		0.468	NCALD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380732.2			41	80	1	0	9.63e-15	1.23e-14	41	80				
NOV	4856	broad.mit.edu	37	8	120435311	120435311	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr8:120435311C>A	ENST00000259526.3	+	5	1240	c.1013C>A	c.(1012-1014)cCt>cAt	p.P338H	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	0	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			ACCAACTGTCCTAAGAACAAT	0.507																																						uc003yoq.2		NA																	0				ovary(2)|skin(2)|kidney(1)	5						c.(1012-1014)CCT>CAT		nephroblastoma overexpressed precursor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						189.0	173.0	178.0					8																	120435311		2203	4300	6503	SO:0001583	missense	4856				regulation of cell growth		growth factor activity|insulin-like growth factor binding	g.chr8:120435311C>A	X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"""nephroblastoma overexpressed gene"""			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.1013C>A	8.37:g.120435311C>A	ENSP00000259526:p.Pro338His						p.P338H	NM_002514	NP_002505	P48745	NOV_HUMAN	STAD - Stomach adenocarcinoma(47;0.000507)		5	1234	+	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		338			CTCK.			Missense_Mutation	SNP	ENST00000259526.3	37	c.1013C>A	CCDS6328.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645292	0.87859	.	.	ENSG00000136999	ENST00000259526	D	0.91011	-2.77	5.58	5.58	0.84498	Cystine knot (1);Cystine knot, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95360	0.8494	M	0.75615	2.305	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.95375	0.8468	10	0.72032	D	0.01	-9.3558	19.5711	0.95419	0.0:1.0:0.0:0.0	.	338	P48745	NOV_HUMAN	H	338	ENSP00000259526:P338H	ENSP00000259526:P338H	P	+	2	0	NOV	120504492	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	7.818000	0.86416	2.632000	0.89209	0.455000	0.32223	CCT		0.507	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	NM_002514		52	117	1	0	2.48e-18	3.24e-18	52	117				
APBA1	320	broad.mit.edu	37	9	72071296	72071296	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:72071296C>T	ENST00000265381.4	-	8	1877	c.1655G>A	c.(1654-1656)gGg>gAg	p.G552E	APBA1_ENST00000470082.1_5'UTR	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	552	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						AACGATGTTCCCAATGTCCGC	0.577																																						uc004ahh.2		NA																	0				lung(1)	1						c.(1654-1656)GGG>GAG		amyloid beta A4 precursor protein-binding,							248.0	228.0	235.0					9																	72071296		2203	4300	6503	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72071296C>T	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1655G>A	9.37:g.72071296C>T	ENSP00000265381:p.Gly552Glu						p.G552E	NM_001163	NP_001154	Q02410	APBA1_HUMAN			8	1931	-			552			PID.		O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.1655G>A	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	C	36	5.618037	0.96649	.	.	ENSG00000107282	ENST00000265381	T	0.23348	1.91	5.96	5.96	0.96718	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.52419	0.1733	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48514	-0.9029	10	0.87932	D	0	-20.6147	20.397	0.98985	0.0:1.0:0.0:0.0	.	552	Q02410	APBA1_HUMAN	E	552	ENSP00000265381:G552E	ENSP00000265381:G552E	G	-	2	0	APBA1	71261116	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.686000	0.84128	2.830000	0.97506	0.655000	0.94253	GGG		0.577	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		170	269	0	0	0	0	170	269				
SPATA31D1	389763	broad.mit.edu	37	9	84605871	84605871	+	Silent	SNP	G	G	A	rs575416308	byFrequency	TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:84605871G>A	ENST00000344803.2	+	4	533	c.486G>A	c.(484-486)tcG>tcA	p.S162S		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	162					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGGCTTCTTCGGCTTCTGCGA	0.562													A|||	7	0.00139776	0.003	0.0	5008	,	,		19167	0.0		0.003	False		,,,				2504	0.0					uc004amn.2		NA																	0					0						c.(484-486)TCG>TCA		hypothetical protein LOC389763							122.0	120.0	121.0					9																	84605871		1998	4165	6163	SO:0001819	synonymous_variant	389763					integral to membrane		g.chr9:84605871G>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.486G>A	9.37:g.84605871G>A							p.S162S	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	533	+			162						Silent	SNP	ENST00000344803.2	37	c.486G>A	CCDS47986.1																																																																																				0.562	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		6	83	0	0	0	0	6	83				
HABP4	22927	broad.mit.edu	37	9	99227713	99227713	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:99227713A>G	ENST00000375249.4	+	3	682	c.607A>G	c.(607-609)Aga>Gga	p.R203G	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2			hyaluronan binding protein 4											NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				CCCTGGGAACAGAGTTTTTGA	0.478																																						uc010msg.2		NA																	0				ovary(1)	1						c.(607-609)AGA>GGA		hyaluronan binding protein 4							114.0	125.0	121.0					9																	99227713		2203	4300	6503	SO:0001583	missense	22927				platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding	g.chr9:99227713A>G	AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.607A>G	9.37:g.99227713A>G	ENSP00000364398:p.Arg203Gly					HABP4_uc010msh.2_Intron	p.R203G	NM_014282	NP_055097	Q5JVS0	HABP4_HUMAN			3	755	+		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)	203						Missense_Mutation	SNP	ENST00000375249.4	37	c.607A>G	CCDS6719.1	.	.	.	.	.	.	.	.	.	.	A	6.680	0.494078	0.12702	.	.	ENSG00000130956	ENST00000375249	T	0.34072	1.38	4.86	3.69	0.42338	.	0.141525	0.64402	D	0.000007	T	0.24736	0.0600	L	0.35341	1.055	0.28430	N	0.917321	B	0.06786	0.001	B	0.06405	0.002	T	0.12811	-1.0533	10	0.32370	T	0.25	-6.903	8.0228	0.30419	0.7899:0.1369:0.0732:0.0	.	203	Q5JVS0	HABP4_HUMAN	G	203	ENSP00000364398:R203G	ENSP00000364398:R203G	R	+	1	2	HABP4	98267534	0.993000	0.37304	0.996000	0.52242	0.026000	0.11368	1.501000	0.35693	0.963000	0.38082	0.524000	0.50904	AGA		0.478	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	NM_014282		63	96	0	0	0	0	63	96				
GRIN3A	116443	broad.mit.edu	37	9	104335733	104335733	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:104335733C>T	ENST00000361820.3	-	9	3671	c.3071G>A	c.(3070-3072)cGa>cAa	p.R1024Q		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	1024					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GTATTTCCGTCGGTTGTCATG	0.483																																						uc004bbp.1		NA																	0				ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(3070-3072)CGA>CAA		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						144.0	137.0	139.0					9																	104335733		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104335733C>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.3071G>A	9.37:g.104335733C>T	ENSP00000355155:p.Arg1024Gln					GRIN3A_uc004bbo.1_Missense_Mutation_p.R99Q	p.R1024Q	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			9	3672	-		Acute lymphoblastic leukemia(62;0.0568)	1024			Cytoplasmic (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.3071G>A	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	7.047	0.563620	0.13498	.	.	ENSG00000198785	ENST00000361820	T	0.11712	2.75	5.57	-0.206	0.13193	.	5.869880	0.00397	N	0.000044	T	0.14056	0.0340	M	0.73962	2.25	0.28265	N	0.924661	B	0.14805	0.011	B	0.09377	0.004	T	0.32851	-0.9891	10	0.17369	T	0.5	.	4.9765	0.14144	0.0:0.4493:0.2819:0.2688	.	1024	Q8TCU5	NMD3A_HUMAN	Q	1024	ENSP00000355155:R1024Q	ENSP00000355155:R1024Q	R	-	2	0	GRIN3A	103375554	0.596000	0.26866	0.025000	0.17156	0.146000	0.21551	0.967000	0.29344	-0.246000	0.09611	-0.136000	0.14681	CGA		0.483	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			66	99	0	0	0	0	66	99				
ZFP37	7539	broad.mit.edu	37	9	115805240	115805240	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:115805240G>T	ENST00000374227.3	-	4	1685	c.1658C>A	c.(1657-1659)gCc>gAc	p.A553D	ZFP37_ENST00000553380.1_Missense_Mutation_p.A568D|ZFP37_ENST00000555206.1_Missense_Mutation_p.A554D	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	553					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TTGGCTAAAGGCTTTCCCACA	0.383																																						uc004bgm.1		NA																	0				ovary(1)|skin(1)	2						c.(1657-1659)GCC>GAC		zinc finger protein 37 homolog							107.0	100.0	102.0					9																	115805240		2203	4300	6503	SO:0001583	missense	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115805240G>T	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.1658C>A	9.37:g.115805240G>T	ENSP00000363344:p.Ala553Asp					ZFP37_uc011lwz.1_Missense_Mutation_p.A568D|ZFP37_uc011lxa.1_Missense_Mutation_p.A554D	p.A553D	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN			4	1686	-			553			C2H2-type 10.		A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	c.1658C>A	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	G	5.256	0.232702	0.09969	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.37411	1.2;1.2;1.2	4.43	4.43	0.53597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.542526	0.15512	N	0.258511	T	0.48241	0.1489	L	0.49126	1.545	0.21950	N	0.999451	B;B;P	0.37781	0.096;0.096;0.608	B;B;P	0.55011	0.099;0.099;0.766	T	0.37267	-0.9713	10	0.66056	D	0.02	-0.4675	8.5661	0.33540	0.1007:0.0:0.8993:0.0	.	554;568;553	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	D	553;554;568	ENSP00000363344:A553D;ENSP00000451310:A554D;ENSP00000452552:A568D	ENSP00000363344:A553D	A	-	2	0	ZFP37	114845061	0.000000	0.05858	0.969000	0.41365	0.290000	0.27261	0.265000	0.18515	2.752000	0.94435	0.655000	0.94253	GCC		0.383	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		22	92	1	0	1.5e-11	1.86e-11	22	92				
MEGF9	1955	broad.mit.edu	37	9	123384920	123384920	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:123384920C>A	ENST00000373930.3	-	3	1028	c.917G>T	c.(916-918)cGg>cTg	p.R306L	MEGF9_ENST00000426959.1_Missense_Mutation_p.R343L	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	306	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.					integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						ACTGGCAGACCGATTATTGCA	0.423																																						uc004bkj.1		NA																	0					0						c.(1027-1029)CGG>CTG		multiple EGF-like-domains 9							99.0	100.0	100.0					9																	123384920		1978	4166	6144	SO:0001583	missense	1955					integral to membrane	calcium ion binding	g.chr9:123384920C>A	AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"""EGF-like-domain, multiple 5"""	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.917G>T	9.37:g.123384920C>A	ENSP00000363040:p.Arg306Leu					MEGF9_uc011lyb.1_Missense_Mutation_p.R298L	p.R343L	NM_001080497	NP_001073966	Q9H1U4	MEGF9_HUMAN			5	1028	-			306			Extracellular (Potential).|Laminin EGF-like 3.		B7Z315|O75098	Missense_Mutation	SNP	ENST00000373930.3	37	c.1028G>T	CCDS48010.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056957	0.76074	.	.	ENSG00000106780	ENST00000373930;ENST00000426959	T;T	0.62788	-0.0;-0.0	5.99	3.85	0.44370	.	0.135560	0.49916	D	0.000131	T	0.64450	0.2599	L	0.41573	1.285	0.40416	D	0.979798	D	0.58970	0.984	P	0.60236	0.871	T	0.61840	-0.6980	10	0.28530	T	0.3	-3.4395	10.1903	0.43021	0.0:0.7798:0.0:0.2202	.	343	C9J1K8	.	L	306;343	ENSP00000363040:R306L;ENSP00000392666:R343L	ENSP00000363040:R306L	R	-	2	0	MEGF9	122424741	0.982000	0.34865	0.995000	0.50966	0.996000	0.88848	0.696000	0.25541	1.545000	0.49373	0.655000	0.94253	CGG		0.423	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1	NM_001080497		12	29	1	0	3.41e-10	4.18e-10	12	29				
MEGF9	1955	broad.mit.edu	37	9	123384926	123384926	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:123384926T>G	ENST00000373930.3	-	3	1022	c.911A>C	c.(910-912)aAt>aCt	p.N304T	MEGF9_ENST00000426959.1_Missense_Mutation_p.N341T	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	304	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.					integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						AGACCGATTATTGCATTGGCA	0.423																																						uc004bkj.1		NA																	0					0						c.(1021-1023)AAT>ACT		multiple EGF-like-domains 9							93.0	95.0	95.0					9																	123384926		1979	4169	6148	SO:0001583	missense	1955					integral to membrane	calcium ion binding	g.chr9:123384926T>G	AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"""EGF-like-domain, multiple 5"""	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.911A>C	9.37:g.123384926T>G	ENSP00000363040:p.Asn304Thr					MEGF9_uc011lyb.1_Missense_Mutation_p.N296T	p.N341T	NM_001080497	NP_001073966	Q9H1U4	MEGF9_HUMAN			5	1022	-			304			Extracellular (Potential).|Laminin EGF-like 3.		B7Z315|O75098	Missense_Mutation	SNP	ENST00000373930.3	37	c.1022A>C	CCDS48010.2	.	.	.	.	.	.	.	.	.	.	T	19.84	3.901966	0.72754	.	.	ENSG00000106780	ENST00000373930;ENST00000426959	T;T	0.64803	-0.12;-0.12	5.99	3.67	0.42095	.	0.171271	0.47852	D	0.000212	T	0.77512	0.4141	M	0.94021	3.485	0.47584	D	0.999464	P	0.52692	0.955	P	0.54889	0.763	T	0.78342	-0.2241	10	0.72032	D	0.01	-4.3628	7.9081	0.29774	0.0:0.1696:0.0:0.8304	.	341	C9J1K8	.	T	304;341	ENSP00000363040:N304T;ENSP00000392666:N341T	ENSP00000363040:N304T	N	-	2	0	MEGF9	122424747	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.344000	0.33941	0.519000	0.28406	0.533000	0.62120	AAT		0.423	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1	NM_001080497		12	28	0	0	0	0	12	28				
NOTCH1	4851	broad.mit.edu	37	9	139418287	139418287	+	Silent	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:139418287C>A	ENST00000277541.6	-	3	360	c.285G>T	c.(283-285)ggG>ggT	p.G95G	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	95	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCAGAGGGGCCCAGAGAAGC	0.672			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(283-285)GGG>GGT		notch1 preproprotein							26.0	39.0	34.0					9																	139418287		2154	4249	6403	SO:0001819	synonymous_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139418287C>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.285G>T	9.37:g.139418287C>A		HNSCC(8;0.001)					p.G95G	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	3	285	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	95			Extracellular (Potential).|EGF-like 2.		Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.285G>T	CCDS43905.1																																																																																				0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		10	19	1	0	3.86e-05	4.26e-05	10	19				
MAN1B1	11253	broad.mit.edu	37	9	139981560	139981560	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:139981560A>G	ENST00000371589.4	+	1	182	c.109A>G	c.(109-111)Atg>Gtg	p.M37V	MAN1B1_ENST00000474902.1_5'Flank|AL807752.1_ENST00000596585.1_5'Flank	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	37					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)		CACTGTAGTCATGTACCCACC	0.662																																						uc004cld.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(109-111)ATG>GTG		alpha 1,2-mannosidase							9.0	12.0	11.0					9																	139981560		2164	4243	6407	SO:0001583	missense	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.chr9:139981560A>G	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.109A>G	9.37:g.139981560A>G	ENSP00000360645:p.Met37Val					MAN1B1_uc004clc.2_5'UTR|MAN1B1_uc011meo.1_5'UTR|MAN1B1_uc011mep.1_Missense_Mutation_p.M37V|MAN1B1_uc010ncc.2_RNA|LOC100289341_uc004clb.3_5'Flank	p.M37V	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)	1	144	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	37			Cytoplasmic (Potential).		Q5VSG3|Q9BRS9|Q9Y5K7	Missense_Mutation	SNP	ENST00000371589.4	37	c.109A>G	CCDS7029.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.169|4.169	0.029834|0.029834	0.08101|0.08101	.|.	.|.	ENSG00000177239|ENSG00000177239	ENST00000535144;ENST00000542372|ENST00000371589	.|T	.|0.71698	.|-0.59	3.33|3.33	0.869|0.869	0.19096|0.19096	.|.	.|.	.|.	.|.	.|.	T|T	0.54143|0.54143	0.1840|0.1840	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.08055	.|0.003	T|T	0.41106|0.41106	-0.9527|-0.9527	5|9	.|0.46703	.|T	.|0.11	.|.	7.6279|7.6279	0.28222|0.28222	0.847:0.0:0.153:0.0|0.847:0.0:0.153:0.0	.|.	.|37	.|Q9UKM7	.|MA1B1_HUMAN	R|V	10;9|37	.|ENSP00000360645:M37V	.|ENSP00000360645:M37V	H|M	+|+	2|1	0|0	MAN1B1|MAN1B1	139101381|139101381	0.896000|0.896000	0.30565|0.30565	0.204000|0.204000	0.23530|0.23530	0.119000|0.119000	0.20118|0.20118	1.591000|1.591000	0.36665|0.36665	0.071000|0.071000	0.16664|0.16664	0.379000|0.379000	0.24179|0.24179	CAT|ATG		0.662	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2	NM_016219		7	9	0	0	0	0	7	9				
FAM47A	158724	broad.mit.edu	37	X	34149650	34149650	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chrX:34149650G>T	ENST00000346193.3	-	1	797	c.746C>A	c.(745-747)cCg>cAg	p.P249Q		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	249	Pro-rich.									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						GGGAGGCCCCGGGCGGATATG	0.632																																						uc004ddg.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(745-747)CCG>CAG		hypothetical protein LOC158724							30.0	32.0	31.0					X																	34149650		2199	4296	6495	SO:0001583	missense	158724							g.chrX:34149650G>T	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.746C>A	X.37:g.34149650G>T	ENSP00000345029:p.Pro249Gln						p.P249Q	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	779	-			249			Pro-rich.		A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.746C>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	G	1.428	-0.571058	0.03882	.	.	ENSG00000185448	ENST00000346193	T	0.14640	2.49	0.158	0.158	0.14942	.	.	.	.	.	T	0.26448	0.0646	L	0.58101	1.795	0.09310	N	1	D	0.69078	0.997	D	0.66716	0.946	T	0.08452	-1.0721	8	0.51188	T	0.08	.	.	.	.	.	249	Q5JRC9	FA47A_HUMAN	Q	249	ENSP00000345029:P249Q	ENSP00000345029:P249Q	P	-	2	0	FAM47A	34059571	0.460000	0.25776	0.005000	0.12908	0.005000	0.04900	0.875000	0.28079	0.187000	0.20147	0.190000	0.17370	CCG		0.632	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		12	11	1	0	2.27e-07	2.62e-07	12	11				
ATRX	546	broad.mit.edu	37	X	76875969	76875969	+	Silent	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chrX:76875969A>G	ENST00000373344.5	-	20	5380	c.5166T>C	c.(5164-5166)caT>caC	p.H1722H	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.H1684H	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1722	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTTTTAGAATATGGCCTTCAT	0.294			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3		NA		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		1	Unknown(1)		bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(5164-5166)CAT>CAC		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						61.0	51.0	54.0					X																	76875969		2201	4293	6494	SO:0001819	synonymous_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76875969A>G	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5166T>C	X.37:g.76875969A>G						ATRX_uc004ecq.3_Silent_p.H1684H|ATRX_uc004eco.3_Silent_p.H1507H	p.H1722H	NM_000489	NP_000480	P46100	ATRX_HUMAN			20	5398	-			1722			Helicase ATP-binding.|DEGH box.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	c.5166T>C	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	5.798	0.331504	0.10956	.	.	ENSG00000085224	ENST00000400866	.	.	.	4.47	1.63	0.23807	.	.	.	.	.	T	0.54886	0.1886	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42649	-0.9439	4	.	.	.	-9.4638	7.3354	0.26607	0.558:0.0:0.442:0.0	.	.	.	.	T	11	.	.	I	-	2	0	ATRX	76762625	1.000000	0.71417	0.999000	0.59377	0.759000	0.43091	1.993000	0.40747	0.016000	0.14998	-1.538000	0.00913	ATA		0.294	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		15	3	0	0	0	0	15	3				
ATP7A	538	broad.mit.edu	37	X	77301812	77301812	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chrX:77301812G>C	ENST00000341514.6	+	23	4403	c.4248G>C	c.(4246-4248)gaG>gaC	p.E1416D	ATP7A_ENST00000350425.4_Missense_Mutation_p.E419D|ATP7A_ENST00000343533.5_Missense_Mutation_p.E1338D	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1416					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CAACTTACGAGAGTTATGAAC	0.408																																						uc004ecx.3		NA																	0					0						c.(4246-4248)GAG>GAC		ATPase, Cu++ transporting, alpha polypeptide							118.0	114.0	116.0					X																	77301812		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77301812G>C	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.4248G>C	X.37:g.77301812G>C	ENSP00000345728:p.Glu1416Asp						p.E1416D	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			23	4408	+			1416			Cytoplasmic (Potential).		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.4248G>C	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255108	0.39896	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	T;T;T	0.73152	-0.72;-0.72;-0.72	4.97	3.13	0.36017	.	0.055703	0.64402	N	0.000001	T	0.56992	0.2023	L	0.38175	1.15	0.46376	D	0.999017	B	0.15141	0.012	B	0.21151	0.033	T	0.48210	-0.9055	10	0.25106	T	0.35	-11.2274	8.9791	0.35955	0.0844:0.1507:0.7649:0.0	.	1416	Q04656	ATP7A_HUMAN	D	1338;419;1416	ENSP00000343026:E1338D;ENSP00000343678:E419D;ENSP00000345728:E1416D	ENSP00000345728:E1416D	E	+	3	2	ATP7A	77188468	1.000000	0.71417	0.975000	0.42487	0.625000	0.37756	3.716000	0.54904	0.856000	0.35383	0.513000	0.50165	GAG		0.408	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		7	80	0	0	0	0	7	80				
CPXCR1	53336	broad.mit.edu	37	X	88008503	88008503	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chrX:88008503G>C	ENST00000276127.4	+	3	347	c.88G>C	c.(88-90)Gac>Cac	p.D30H	CPXCR1_ENST00000373111.1_Missense_Mutation_p.D30H	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	30							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						CTGTAGTACAGACATAGAGTC	0.428																																						uc004efd.3		NA																	0				ovary(3)	3						c.(88-90)GAC>CAC		CPX chromosome region, candidate 1							40.0	35.0	36.0					X																	88008503		2203	4300	6503	SO:0001583	missense	53336					intracellular	zinc ion binding	g.chrX:88008503G>C	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.88G>C	X.37:g.88008503G>C	ENSP00000276127:p.Asp30His					CPXCR1_uc004efc.3_Missense_Mutation_p.D30H	p.D30H	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN			3	347	+			30					B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	c.88G>C	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.045001	0.36085	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.29397	1.57;1.57	3.29	2.43	0.29744	.	0.354669	0.20347	N	0.094137	T	0.32071	0.0817	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	D	0.65773	0.938	T	0.04961	-1.0915	9	.	.	.	.	5.7743	0.18271	0.1517:0.0:0.8483:0.0	.	30	Q8N123	CPXCR_HUMAN	H	30	ENSP00000276127:D30H;ENSP00000362203:D30H	.	D	+	1	0	CPXCR1	87895159	0.004000	0.15560	0.002000	0.10522	0.107000	0.19398	0.945000	0.29056	0.794000	0.33899	0.523000	0.50628	GAC		0.428	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		14	1	0	0	0	0	14	1				
SLC18A3	6572	broad.mit.edu	37	10	50819677	50819677	+	Frame_Shift_Del	DEL	G	G	-	rs369936850		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr10:50819677delG	ENST00000374115.3	+	1	1331	c.891delG	c.(889-891)gcgfs	p.A297fs	CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000455728.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	297					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TGGCCGGCGCGCTCACCACCT	0.642																																						uc001jhw.2		NA																	0				ovary(2)	2						c.(889-891)GCGfs		vesicular acetylcholine transporter							66.0	63.0	64.0					10																	50819677		2203	4300	6503	SO:0001589	frameshift_variant	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50819677delG	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.891delG	10.37:g.50819677delG	ENSP00000363229:p.Ala297fs					CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	p.A297fs	NM_003055	NP_003046	Q16572	VACHT_HUMAN			1	1331	+			297			Helical; (Potential).		B2R7S1	Frame_Shift_Del	DEL	ENST00000374115.3	37	c.891delG	CCDS7231.1																																																																																				0.642	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		23	58	NA	NA	NA	NA	23	58	---	---	---	---
STK33	65975	broad.mit.edu	37	11	8474394	8474394	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:8474394delG	ENST00000447869.1	-	7	1764	c.846delC	c.(844-846)gccfs	p.A282fs	STK33_ENST00000396673.1_Frame_Shift_Del_p.A282fs|STK33_ENST00000358872.3_Frame_Shift_Del_p.A95fs|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000396672.1_Frame_Shift_Del_p.A282fs|STK33_ENST00000534493.1_Frame_Shift_Del_p.A241fs|STK33_ENST00000315204.1_Frame_Shift_Del_p.A282fs			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	282	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TCCCACATGTGGCCTGCAGCA	0.453																																						uc001mgi.1		NA																	0				ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(844-846)GCCfs		serine/threonine kinase 33							141.0	148.0	146.0					11																	8474394		2201	4296	6497	SO:0001589	frameshift_variant	65975					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:8474394delG	AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.846delC	11.37:g.8474394delG	ENSP00000416750:p.Ala282fs					STK33_uc001mgj.1_Frame_Shift_Del_p.A282fs|STK33_uc001mgk.1_Frame_Shift_Del_p.A282fs|STK33_uc010rbn.1_Frame_Shift_Del_p.A241fs|STK33_uc001mgl.3_Frame_Shift_Del_p.A95fs|STK33_uc009yfp.2_Frame_Shift_Del_p.A4fs	p.A282fs	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN		Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)	7	1765	-			282			Protein kinase.		Q658S6|Q8NEF5	Frame_Shift_Del	DEL	ENST00000447869.1	37	c.846delC	CCDS7789.1																																																																																				0.453	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	NM_030906		49	98	NA	NA	NA	NA	49	98	---	---	---	---
KIAA0430	9665	broad.mit.edu	37	16	15729832	15729832	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr16:15729832delC	ENST00000396368.3	-	3	718	c.512delG	c.(511-513)ggcfs	p.G171fs	KIAA0430_ENST00000548025.1_Frame_Shift_Del_p.G171fs|KIAA0430_ENST00000602337.1_Frame_Shift_Del_p.G171fs|KIAA0430_ENST00000540441.2_Frame_Shift_Del_p.G171fs|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000551742.1_Frame_Shift_Del_p.G171fs	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	171					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						ACTTGCAATGCCTGCCAAATT	0.498																																						uc002ddr.2		NA																	0					0						c.(511-513)GGCfs		limkain b1							157.0	155.0	156.0					16																	15729832		2063	4217	6280	SO:0001589	frameshift_variant	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15729832delC	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.512delG	16.37:g.15729832delC	ENSP00000379654:p.Gly171fs					KIAA0430_uc002ddq.2_Frame_Shift_Del_p.G170fs|KIAA0430_uc010uzv.1_Frame_Shift_Del_p.G170fs|KIAA0430_uc010uzw.1_Frame_Shift_Del_p.G170fs|KIAA0430_uc010uzx.1_Frame_Shift_Del_p.G170fs	p.G171fs	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN			3	705	-			170					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Frame_Shift_Del	DEL	ENST00000396368.3	37	c.512delG	CCDS10562.2																																																																																				0.498	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		60	110	NA	NA	NA	NA	60	110	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7576896	7576897	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr17:7576896_7576897insG	ENST00000269305.4	-	9	1138_1139	c.949_950insC	c.(949-951)cagfs	p.Q317fs	TP53_ENST00000420246.2_Frame_Shift_Ins_p.Q317fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.Q317fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.Q317fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.Q317fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron	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	317	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		Q -> H (in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).|Q -> P (in a sporadic cancer; somatic mutation).|Q -> R (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.Q317*(29)|p.0?(8)|p.Q317K(3)|p.Q317R(2)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.Q317P(1)|p.Q317fs*28(1)|p.Q317fs*45(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)	CTTCTTTGGCTGGGGAGAGGAG	0.47		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		49	Substitution - Nonsense(29)|Whole gene deletion(8)|Substitution - Missense(6)|Deletion - Frameshift(4)|Insertion - Frameshift(1)|Unknown(1)	p.Q317*(19)|p.0?(7)|p.Q317K(3)|p.Q317R(2)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.Q317P(1)|p.Q317fs*28(1)|p.Q317fs*45(1)|p.Q317fs*19(1)	breast(7)|large_intestine(5)|bone(5)|urinary_tract(4)|skin(4)|ovary(4)|upper_aerodigestive_tract(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(2)|lung(2)|NS(2)|pancreas(2)|thyroid(1)|stomach(1)|soft_tissue(1)|liver(1)|endometrium(1)|oesophagus(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.(949-951)CAGfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001589	frameshift_variant	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.chr17:7576896_7576897insG	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.950dupC	17.37:g.7576900_7576900dupG	ENSP00000269305:p.Gln317fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Ins_p.Q317fs|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Frame_Shift_Ins_p.Q185fs|TP53_uc010cng.1_Frame_Shift_Ins_p.Q185fs|TP53_uc002gii.1_Frame_Shift_Ins_p.Q185fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.Q317fs|TP53_uc010cni.1_Frame_Shift_Ins_p.Q317fs|TP53_uc002gij.2_Frame_Shift_Ins_p.Q317fs	p.Q317fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1143_1144	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	317		Q -> H (in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation).|Q -> P (in a sporadic cancer; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).	Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.		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	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.949_950insC	CCDS11118.1																																																																																				0.470	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	34	NA	NA	NA	NA	17	34	---	---	---	---
ASXL1	171023	broad.mit.edu	37	20	31022483	31022483	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr20:31022483delT	ENST00000375687.4	+	13	2392	c.1968delT	c.(1966-1968)gatfs	p.D656fs	ASXL1_ENST00000306058.5_Frame_Shift_Del_p.D651fs	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	656	Gly-rich.|Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.T639_G659>PPWD(1)|p.A640_S664>PCSGG(1)|p.T655fs*8(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGGCCACCGATGAGGGAGGTG	0.701			"""F, N, Mis"""		"""MDS, CMML"""																																	uc002wxs.2		NA		Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		3	Complex - deletion inframe(2)|Deletion - Frameshift(1)	p.T639_G659>PPWD(1)|p.A640_S664>PCSGG(1)|p.T655fs*8(1)	haematopoietic_and_lymphoid_tissue(3)	haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(1966-1968)GATfs		additional sex combs like 1 isoform 1							9.0	9.0	9.0					20																	31022483		2141	4197	6338	SO:0001589	frameshift_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31022483delT	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1968delT	20.37:g.31022483delT	ENSP00000364839:p.Asp656fs					ASXL1_uc010geb.2_Frame_Shift_Del_p.D547fs	p.D656fs	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			12	2394	+			656			Gly-rich.		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Frame_Shift_Del	DEL	ENST00000375687.4	37	c.1968delT	CCDS13201.1																																																																																				0.701	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		10	9	NA	NA	NA	NA	10	9	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187629538	187629538	+	Frame_Shift_Del	DEL	C	C	-	rs3733413	byFrequency	TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr4:187629538delC	ENST00000441802.2	-	2	1653	c.1444delG	c.(1444-1446)gtcfs	p.V482fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	482	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.			V -> I (in Ref. 1; CAA60685). {ECO:0000305}.	actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGGCTCATGACAGTAGTACCA	0.468										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(1444-1446)GTCfs		FAT tumor suppressor 1 precursor							153.0	147.0	149.0					4																	187629538		2042	4182	6224	SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187629538delC	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1444delG	4.37:g.187629538delC	ENSP00000406229:p.Val482fs	HNSCC(5;0.00058)				FAT1_uc010iso.1_Frame_Shift_Del_p.V482fs	p.V482fs	NM_005245	NP_005236	Q14517	FAT1_HUMAN			2	1632	-			482	V -> I (in Ref. 1; CAA60685).		Extracellular (Potential).|Cadherin 4.			Frame_Shift_Del	DEL	ENST00000441802.2	37	c.1444delG	CCDS47177.1																																																																																				0.468	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		38	48	NA	NA	NA	NA	38	48	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140994291	140994291	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chrX:140994291delT	ENST00000285879.4	+	4	1387	c.1101delT	c.(1099-1101)ggtfs	p.G367fs	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	367										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTTGAGGGTTTTCCCCAGT	0.478										HNSCC(15;0.026)																												uc004fbt.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1099-1101)GGTfs		melanoma antigen family C, 1							106.0	106.0	106.0					X																	140994291		2200	4289	6489	SO:0001589	frameshift_variant	9947						protein binding	g.chrX:140994291delT	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1101delT	X.37:g.140994291delT	ENSP00000285879:p.Gly367fs	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.G367fs	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	1387	+	Acute lymphoblastic leukemia(192;6.56e-05)		367					A0PK03|O75451|Q8TCV4	Frame_Shift_Del	DEL	ENST00000285879.4	37	c.1101delT	CCDS35417.1																																																																																				0.478	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		104	45	NA	NA	NA	NA	104	45	---	---	---	---
