#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
LIN28A	79727	broad.mit.edu	37	1	26752814	26752814	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:26752814G>C	ENST00000326279.6	+	4	609	c.495G>C	c.(493-495)caG>caC	p.Q165H	LIN28A_ENST00000254231.4_Missense_Mutation_p.Q165H	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	165					germ cell development (GO:0007281)|miRNA catabolic process (GO:0010587)|negative regulation of glial cell differentiation (GO:0045686)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of translation (GO:0045727)|pre-miRNA processing (GO:0031054)|regulation of gene silencing by miRNA (GO:0060964)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						ACTTCTGCCAGAGCATCAGCC	0.532																																						uc001bmj.2		NA																	0				central_nervous_system(1)	1						c.(493-495)CAG>CAC		lin-28 homolog							66.0	63.0	64.0					1																	26752814		2203	4300	6503	SO:0001583	missense	79727				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding	g.chr1:26752814G>C	AF521099	CCDS280.1	1p35.3	2013-01-09	2010-04-06	2010-04-06	ENSG00000131914	ENSG00000131914		"""Zinc fingers, CCHC domain containing"""	15986	protein-coding gene	gene with protein product		611043	"""lin-28 homolog (C. elegans)"""	LIN28		12798299	Standard	XM_006710899		Approved	LIN-28, FLJ12457, ZCCHC1, CSDD1	uc001bmj.3	Q9H9Z2	OTTHUMG00000003550	ENST00000326279.6:c.495G>C	1.37:g.26752814G>C	ENSP00000363314:p.Gln165His					LIN28A_uc001bmi.1_RNA	p.Q165H	NM_024674	NP_078950	Q9H9Z2	LN28A_HUMAN			4	609	+			165			CCHC-type 2.			Missense_Mutation	SNP	ENST00000326279.6	37	c.495G>C	CCDS280.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477192	0.44044	.	.	ENSG00000131914	ENST00000326279;ENST00000254231	T;T	0.47869	0.83;0.83	4.71	1.63	0.23807	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (1);	0.000000	0.64402	D	0.000009	T	0.57621	0.2066	L	0.60455	1.87	0.24253	N	0.995315	D	0.71674	0.998	D	0.81914	0.995	T	0.46076	-0.9217	10	0.52906	T	0.07	.	6.6181	0.22788	0.4631:0.0:0.5369:0.0	.	165	Q9H9Z2	LN28A_HUMAN	H	165	ENSP00000363314:Q165H;ENSP00000254231:Q165H	ENSP00000254231:Q165H	Q	+	3	2	LIN28A	26625401	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.611000	0.24268	0.139000	0.18822	0.555000	0.69702	CAG		0.532	LIN28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009891.2	NM_024674		9	54	0	0	0	0	9	54				
COL9A2	1298	broad.mit.edu	37	1	40771397	40771397	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:40771397G>A	ENST00000372748.3	-	21	1193	c.1097C>T	c.(1096-1098)cCt>cTt	p.P366L	COL9A2_ENST00000466267.1_5'Flank	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	366	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CTCTTTCCCAGGGGGACCAGA	0.612																																						uc001cfh.1		NA																	0				ovary(2)	2						c.(1096-1098)CCT>CTT		alpha 2 type IX collagen precursor							47.0	51.0	50.0					1																	40771397		2203	4300	6503	SO:0001583	missense	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40771397G>A	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.1097C>T	1.37:g.40771397G>A	ENSP00000361834:p.Pro366Leu					COL9A2_uc001cfi.1_Missense_Mutation_p.P185L	p.P366L	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		21	1167	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	366			Triple-helical region 3 (COL3).		B2RMP9	Missense_Mutation	SNP	ENST00000372748.3	37	c.1097C>T	CCDS450.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896828	0.72639	.	.	ENSG00000049089	ENST00000372748	D	0.96885	-4.16	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.98324	0.9444	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98863	1.0763	10	0.66056	D	0.02	.	17.5892	0.87991	0.0:0.0:1.0:0.0	.	366	Q14055	CO9A2_HUMAN	L	366	ENSP00000361834:P366L	ENSP00000361834:P366L	P	-	2	0	COL9A2	40543984	1.000000	0.71417	0.992000	0.48379	0.893000	0.52053	7.800000	0.85949	2.767000	0.95098	0.655000	0.94253	CCT		0.612	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		11	43	0	0	0	0	11	43				
IL12RB2	3595	broad.mit.edu	37	1	67861599	67861599	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:67861599G>A	ENST00000262345.1	+	16	3056	c.2416G>A	c.(2416-2418)Gat>Aat	p.D806N	IL12RB2_ENST00000544434.1_Missense_Mutation_p.D720N|IL12RB2_ENST00000371000.1_3'UTR	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	806					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CTCCAACATAGATGACCTCCC	0.577																																						uc001ddu.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2416-2418)GAT>AAT		interleukin 12 receptor, beta 2 precursor							215.0	204.0	208.0					1																	67861599		2203	4300	6503	SO:0001583	missense	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67861599G>A	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.2416G>A	1.37:g.67861599G>A	ENSP00000262345:p.Asp806Asn					IL12RB2_uc010oqi.1_3'UTR|IL12RB2_uc010oqj.1_3'UTR|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.D720N|IL12RB2_uc010oqm.1_3'UTR|IL12RB2_uc010oqn.1_RNA	p.D806N	NM_001559	NP_001550	Q99665	I12R2_HUMAN			16	3056	+			806			Cytoplasmic (Potential).		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	c.2416G>A	CCDS638.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.338034	0.60963	.	.	ENSG00000081985	ENST00000262345;ENST00000544434	T;T	0.45668	0.89;1.7	5.02	5.02	0.67125	.	0.555585	0.17676	N	0.165792	T	0.25717	0.0626	L	0.50333	1.59	0.80722	D	1	B;B	0.29432	0.244;0.013	B;B	0.25506	0.061;0.007	T	0.12734	-1.0536	10	0.56958	D	0.05	-3.0481	14.2086	0.65750	0.0:0.0:1.0:0.0	.	720;806	F5H7L6;Q99665	.;I12R2_HUMAN	N	806;720	ENSP00000262345:D806N;ENSP00000442443:D720N	ENSP00000262345:D806N	D	+	1	0	IL12RB2	67634187	0.020000	0.18652	0.008000	0.14137	0.002000	0.02628	1.258000	0.32944	2.494000	0.84150	0.591000	0.81541	GAT		0.577	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		62	175	0	0	0	0	62	175				
ZNF644	84146	broad.mit.edu	37	1	91403926	91403926	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:91403926G>A	ENST00000370440.1	-	3	3202	c.2985C>T	c.(2983-2985)gcC>gcT	p.A995A	ZNF644_ENST00000337393.5_Silent_p.A995A|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	995					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(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CAACATGACGGGCTTCATAGC	0.428																																						uc001dnw.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(2983-2985)GCC>GCT		zinc finger protein 644 isoform 1							146.0	132.0	137.0					1																	91403926		2203	4300	6503	SO:0001819	synonymous_variant	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91403926G>A	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.2985C>T	1.37:g.91403926G>A						ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Silent_p.A995A	p.A995A	NM_201269	NP_958357	Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	3127	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	995					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Silent	SNP	ENST00000370440.1	37	c.2985C>T	CCDS731.1																																																																																				0.428	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		17	56	0	0	0	0	17	56				
ZNF644	84146	broad.mit.edu	37	1	91405606	91405606	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:91405606C>T	ENST00000370440.1	-	3	1522	c.1305G>A	c.(1303-1305)ggG>ggA	p.G435G	ZNF644_ENST00000337393.5_Silent_p.G435G|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	435					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(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AGTGACTATTCCCATCTAAAT	0.413																																						uc001dnw.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(1303-1305)GGG>GGA		zinc finger protein 644 isoform 1							113.0	116.0	115.0					1																	91405606		2203	4299	6502	SO:0001819	synonymous_variant	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91405606C>T	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.1305G>A	1.37:g.91405606C>T						ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Silent_p.G435G	p.G435G	NM_201269	NP_958357	Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	1447	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	435					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Silent	SNP	ENST00000370440.1	37	c.1305G>A	CCDS731.1																																																																																				0.413	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		20	56	0	0	0	0	20	56				
DPYD	1806	broad.mit.edu	37	1	97770874	97770874	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:97770874T>A	ENST00000370192.3	-	18	2340	c.2240A>T	c.(2239-2241)gAt>gTt	p.D747V	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	747					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	AGGTGTGCCATCAGATTTTAA	0.478																																						uc001drv.2		NA																	0				ovary(3)|skin(3)|breast(2)	8						c.(2239-2241)GAT>GTT		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						206.0	172.0	184.0					1																	97770874		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97770874T>A	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2240A>T	1.37:g.97770874T>A	ENSP00000359211:p.Asp747Val						p.D747V	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	18	2377	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	747					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.2240A>T	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.414790	0.83449	.	.	ENSG00000188641	ENST00000370192	D	0.84800	-1.9	5.55	4.43	0.53597	Aldolase-type TIM barrel (1);	0.054913	0.64402	D	0.000001	D	0.91975	0.7458	H	0.94503	3.545	0.80722	D	1	D	0.57571	0.98	D	0.63957	0.92	D	0.93329	0.6699	10	0.87932	D	0	-11.5046	11.6699	0.51395	0.0:0.0696:0.0:0.9304	.	747	Q12882	DPYD_HUMAN	V	747	ENSP00000359211:D747V	ENSP00000359211:D747V	D	-	2	0	DPYD	97543462	1.000000	0.71417	0.849000	0.33467	0.909000	0.53808	5.927000	0.70080	1.048000	0.40298	0.477000	0.44152	GAT		0.478	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		23	66	0	0	0	0	23	66				
EPS8L3	79574	broad.mit.edu	37	1	110294748	110294748	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:110294748G>A	ENST00000361965.4	-	15	1409	c.1303C>T	c.(1303-1305)Cag>Tag	p.Q435*	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Intron|EPS8L3_ENST00000369805.3_Nonsense_Mutation_p.Q436*	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	435						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		TCCCCAGGCTGAGGGTCATGG	0.562																																						uc001dyr.1		NA																	0				ovary(2)|skin(1)	3						c.(1303-1305)CAG>TAG		epidermal growth factor receptor pathway							147.0	162.0	157.0					1																	110294748		2203	4300	6503	SO:0001587	stop_gained	79574					cytoplasm	protein binding	g.chr1:110294748G>A	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.1303C>T	1.37:g.110294748G>A	ENSP00000355255:p.Gln435*					EPS8L3_uc001dys.1_Intron|EPS8L3_uc001dyq.1_Nonsense_Mutation_p.Q436*|EPS8L3_uc009wfm.1_Intron|EPS8L3_uc009wfn.1_Intron	p.Q435*	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	15	1448	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	435					A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Nonsense_Mutation	SNP	ENST00000361965.4	37	c.1303C>T	CCDS814.1	.	.	.	.	.	.	.	.	.	.	G	40	8.038704	0.98624	.	.	ENSG00000198758	ENST00000369805;ENST00000361965	.	.	.	4.44	2.47	0.30058	.	3.078450	0.00682	N	0.000693	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0331	5.9678	0.19334	0.108:0.1933:0.6986:0.0	.	.	.	.	X	436;435	.	.	Q	-	1	0	EPS8L3	110096271	0.007000	0.16637	0.001000	0.08648	0.964000	0.63967	1.482000	0.35486	0.293000	0.22520	0.655000	0.94253	CAG		0.562	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		36	133	0	0	0	0	36	133				
NOTCH2	4853	broad.mit.edu	37	1	120539638	120539638	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:120539638C>A	ENST00000256646.2	-	4	952	c.733G>T	c.(733-735)Gag>Tag	p.E245*	NOTCH2_ENST00000602566.1_Nonsense_Mutation_p.E206*	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	245	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGTTGCACTCAAAAGTGAAG	0.547			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2		NA		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		0				lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(733-735)GAG>TAG		notch 2 preproprotein							22.0	20.0	21.0					1																	120539638		2168	4208	6376	SO:0001587	stop_gained	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120539638C>A	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.733G>T	1.37:g.120539638C>A	ENSP00000256646:p.Glu245*					NOTCH2_uc001eil.2_Nonsense_Mutation_p.E245*|NOTCH2_uc001eim.3_Nonsense_Mutation_p.E162*	p.E245*	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	989	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	245			EGF-like 6.|Extracellular (Potential).		Q5T3X7|Q99734|Q9H240	Nonsense_Mutation	SNP	ENST00000256646.2	37	c.733G>T	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	38	7.118774	0.98077	.	.	ENSG00000134250	ENST00000256646;ENST00000539617;ENST00000401649;ENST00000369342	.	.	.	5.83	5.83	0.93111	.	0.000000	0.37955	U	0.001880	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	19.0925	0.93233	0.0:1.0:0.0:0.0	.	.	.	.	X	245;206;218;206	.	ENSP00000256646:E245X	E	-	1	0	NOTCH2	120341161	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	3.912000	0.56386	2.745000	0.94114	0.585000	0.79938	GAG		0.547	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		7	31	1	0	0.000157383	0.000267598	7	31				
ACP6	51205	broad.mit.edu	37	1	147131783	147131783	+	Silent	SNP	T	T	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:147131783T>C	ENST00000369238.6	-	2	774	c.327A>G	c.(325-327)caA>caG	p.Q109Q	ACP6_ENST00000392988.2_Silent_p.Q109Q	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	109	Substrate binding. {ECO:0000250}.				dephosphorylation (GO:0016311)|lysobisphosphatidic acid metabolic process (GO:2001311)|phospholipid metabolic process (GO:0006644)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	acid phosphatase activity (GO:0003993)|lysophosphatidic acid phosphatase activity (GO:0052642)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					TCTCATGGTATTGAGAGTCGT	0.517																																						uc001epr.2		NA																	0				ovary(4)	4						c.(325-327)CAA>CAG		acid phosphatase 6, lysophosphatidic precursor							101.0	101.0	101.0					1																	147131783		2203	4300	6503	SO:0001819	synonymous_variant	51205				lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding	g.chr1:147131783T>C	BC009965	CCDS928.1	1q21	2008-02-05			ENSG00000162836	ENSG00000162836			29609	protein-coding gene	gene with protein product		611471				12010880, 10506173	Standard	NM_016361		Approved	LPAP, ACPL1	uc001epr.2	Q9NPH0	OTTHUMG00000014019	ENST00000369238.6:c.327A>G	1.37:g.147131783T>C						ACP6_uc009wjj.1_Intron	p.Q109Q	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN			2	791	-	all_hematologic(923;0.0276)		109					Q59G61|Q5T490|Q6IAQ3|Q7LG81|Q9UIG6	Silent	SNP	ENST00000369238.6	37	c.327A>G	CCDS928.1																																																																																				0.517	ACP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039420.2	NM_016361		12	89	0	0	0	0	12	89				
ANP32E	81611	broad.mit.edu	37	1	150199019	150199019	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:150199019T>C	ENST00000314136.8	-	5	971	c.602A>G	c.(601-603)gAt>gGt	p.D201G	ANP32E_ENST00000369114.5_Intron|ANP32E_ENST00000369115.2_Missense_Mutation_p.D69G|ANP32E_ENST00000436748.2_Missense_Mutation_p.D160G|ANP32E_ENST00000369119.3_Missense_Mutation_p.D153G|ANP32E_ENST00000369116.4_Missense_Mutation_p.D69G|ANP32E_ENST00000533654.1_Missense_Mutation_p.M146V	NM_001136478.2|NM_001280559.1|NM_030920.3	NP_001129950.1|NP_001267488.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	201	Asp/Glu-rich (highly acidic).				histone exchange (GO:0043486)|negative regulation of catalytic activity (GO:0043086)	cytoplasmic membrane-bounded vesicle (GO:0016023)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	histone binding (GO:0042393)|phosphatase inhibitor activity (GO:0019212)			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ttcatcttcatcttcatcctc	0.458																																						uc001etw.2		NA																	0					0						c.(601-603)GAT>GGT		acidic (leucine-rich) nuclear phosphoprotein 32							332.0	288.0	303.0					1																	150199019		2203	4300	6503	SO:0001583	missense	81611					cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity	g.chr1:150199019T>C	AK092672	CCDS946.1, CCDS44214.1, CCDS44215.1, CCDS60245.1	1q22	2008-02-05			ENSG00000143401	ENSG00000143401		"""ANP32 acidic nuclear phosphoproteins"""	16673	protein-coding gene	gene with protein product		609611				12438741	Standard	NM_030920		Approved	LANPL, MGC5350, LANP-L	uc001etw.3	Q9BTT0	OTTHUMG00000012547	ENST00000314136.8:c.602A>G	1.37:g.150199019T>C	ENSP00000324074:p.Asp201Gly					ANP32E_uc010pbt.1_RNA|ANP32E_uc010pbu.1_Missense_Mutation_p.D153G|ANP32E_uc010pbv.1_Missense_Mutation_p.D160G|ANP32E_uc001etv.3_Missense_Mutation_p.D201G|ANP32E_uc010pbw.1_Missense_Mutation_p.M146V	p.D201G	NM_030920	NP_112182	Q9BTT0	AN32E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	972	-	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		201			Asp/Glu-rich (highly acidic).		B4E0I6|E9PEA6|Q5TB18|Q5TB20|Q8N1S4|Q8WWW9	Missense_Mutation	SNP	ENST00000314136.8	37	c.602A>G	CCDS946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.250|9.250	1.040592|1.040592	0.19669|0.19669	.|.	.|.	ENSG00000143401|ENSG00000143401	ENST00000314136;ENST00000369119;ENST00000369116;ENST00000436748;ENST00000534437;ENST00000369115;ENST00000534220|ENST00000533654	T;T;T|T	0.00333|0.00316	8.07;8.07;8.07|8.13	4.25|4.25	3.1|3.1	0.35709|0.35709	.|.	1.124290|.	0.06636|.	N|.	0.760082|.	T|T	0.00039|0.00039	0.0001|0.0001	N|N	0.19112|0.19112	0.55|0.55	0.44736|0.44736	D|D	0.997739|0.997739	B;B;B|B	0.30281|0.06786	0.275;0.18;0.18|0.001	B;B;B|B	0.30855|0.06405	0.121;0.035;0.035|0.002	T|T	0.48080|0.48080	-0.9066|-0.9066	10|9	0.37606|0.59425	T|D	0.19|0.04	.|.	6.6817|6.6817	0.23123|0.23123	0.0:0.1147:0.0:0.8853|0.0:0.1147:0.0:0.8853	.|.	160;201;153|146	E9PEA6;Q9BTT0;Q5TB20|E9PLC4	.;AN32E_HUMAN;.|.	G|V	201;153;69;160;15;69;79|146	ENSP00000324074:D201G;ENSP00000358115:D153G;ENSP00000393718:D160G|ENSP00000435215:M146V	ENSP00000324074:D201G|ENSP00000435215:M146V	D|M	-|-	2|1	0|0	ANP32E|ANP32E	148465643|148465643	0.996000|0.996000	0.38824|0.38824	0.379000|0.379000	0.26080|0.26080	0.111000|0.111000	0.19643|0.19643	3.797000|3.797000	0.55514|0.55514	0.746000|0.746000	0.32786|0.32786	0.402000|0.402000	0.26972|0.26972	GAT|ATG		0.458	ANP32E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035056.1	NM_030920		29	65	0	0	0	0	29	65				
OR10J1	26476	broad.mit.edu	37	1	159410091	159410091	+	Silent	SNP	T	T	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:159410091T>C	ENST00000423932.3	+	1	580	c.543T>C	c.(541-543)gcT>gcC	p.A181A	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	181					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CCTTCTGTGCTAGAAAGGTGC	0.493																																						uc010piv.1		NA																	0				ovary(1)	1						c.(541-543)GCT>GCC		olfactory receptor, family 10, subfamily J,							198.0	181.0	187.0					1																	159410091		2203	4300	6503	SO:0001819	synonymous_variant	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159410091T>C	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.543T>C	1.37:g.159410091T>C						uc001fts.3_Intron	p.A181A	NM_012351	NP_036483	P30954	O10J1_HUMAN			1	543	+	all_hematologic(112;0.0429)		181			Extracellular (Potential).		Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Silent	SNP	ENST00000423932.3	37	c.543T>C	CCDS1185.1																																																																																				0.493	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		64	154	0	0	0	0	64	154				
PVRL4	81607	broad.mit.edu	37	1	161047483	161047483	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:161047483C>A	ENST00000368012.3	-	3	792	c.490G>T	c.(490-492)Ggc>Tgc	p.G164C	PVRL4_ENST00000453926.2_5'Flank	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	164	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGGGTCAGGCCCTGGCCCTCT	0.627																																					NSCLC(76;1160 1387 14476 16172 29359)	uc001fxo.2		NA																	0				ovary(2)	2						c.(490-492)GGC>TGC		poliovirus receptor-related 4 precursor							28.0	26.0	27.0					1																	161047483		2195	4295	6490	SO:0001583	missense	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161047483C>A	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.490G>T	1.37:g.161047483C>A	ENSP00000356991:p.Gly164Cys					PVRL4_uc010pjz.1_5'Flank	p.G164C	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		3	789	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		164			Ig-like C2-type 1.|Extracellular (Potential).		B4DQW3|Q96K15	Missense_Mutation	SNP	ENST00000368012.3	37	c.490G>T	CCDS1216.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231842	0.79688	.	.	ENSG00000143217	ENST00000368012	D	0.86562	-2.14	5.78	5.78	0.91487	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000012	D	0.91348	0.7271	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91803	0.5453	10	0.87932	D	0	.	17.5142	0.87768	0.0:1.0:0.0:0.0	.	164	Q96NY8	PVRL4_HUMAN	C	164	ENSP00000356991:G164C	ENSP00000356991:G164C	G	-	1	0	PVRL4	159314107	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.466000	0.53071	2.729000	0.93468	0.650000	0.86243	GGC		0.627	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		12	57	1	0	6.4e-05	0.000109821	12	57				
KLHDC9	126823	broad.mit.edu	37	1	161069390	161069390	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:161069390G>A	ENST00000368011.4	+	3	832	c.690G>A	c.(688-690)gaG>gaA	p.E230E	KLHDC9_ENST00000490724.2_3'UTR|PFDN2_ENST00000468311.1_5'Flank|KLHDC9_ENST00000392192.2_Missense_Mutation_p.G237R	NM_152366.4	NP_689579.3	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9	230										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TCCCCAAGGAGGAACCACCTG	0.512																																						uc001fxr.2		NA																	0					0						c.(688-690)GAG>GAA		kelch/ankyrin repeat containing cyclin A1							247.0	251.0	250.0					1																	161069390		2203	4300	6503	SO:0001819	synonymous_variant	126823							g.chr1:161069390G>A	BC022077	CCDS30919.1, CCDS41425.1	1q23.3	2008-02-05			ENSG00000162755	ENSG00000162755			28489	protein-coding gene	gene with protein product	"""kelch/ankyrin repeat containing cyclin A1 interacting protein"""					15159402	Standard	NM_152366		Approved	KARCA1	uc001fxr.3	Q8NEP7	OTTHUMG00000031479	ENST00000368011.4:c.690G>A	1.37:g.161069390G>A						KLHDC9_uc001fxq.2_5'UTR|KLHDC9_uc001fxs.2_Missense_Mutation_p.G237R	p.E230E	NM_152366	NP_689579	Q8NEP7	KLDC9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		3	862	+	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		230					Q5SY56|Q6NXT9|Q6PKN4|Q8N5E1|Q8NA16	Silent	SNP	ENST00000368011.4	37	c.690G>A	CCDS30919.1	.	.	.	.	.	.	.	.	.	.	G	0.046	-1.265837	0.01433	.	.	ENSG00000162755	ENST00000392192	T	0.62788	-0.0	4.67	0.585	0.17428	.	.	.	.	.	T	0.19565	0.0470	.	.	.	0.22142	N	0.99933	B	0.10296	0.003	B	0.11329	0.006	T	0.25984	-1.0116	8	0.21014	T	0.42	-19.8345	6.3969	0.21616	0.2161:0.1396:0.6443:0.0	.	237	Q8NEP7-2	.	R	237	ENSP00000376030:G237R	ENSP00000376030:G237R	G	+	1	0	KLHDC9	159336014	1.000000	0.71417	0.887000	0.34795	0.460000	0.32559	0.533000	0.23082	0.201000	0.20466	0.655000	0.94253	GGA		0.512	KLHDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077092.1	NM_152366		293	246	0	0	0	0	293	246				
ASPM	259266	broad.mit.edu	37	1	197070918	197070918	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:197070918T>G	ENST00000367409.4	-	18	7719	c.7463A>C	c.(7462-7464)cAg>cCg	p.Q2488P	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2488	IQ 26. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GAAAGTAGCCTGAATGAGAAC	0.363																																						uc001gtu.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(7462-7464)CAG>CCG		asp (abnormal spindle)-like, microcephaly							99.0	100.0	100.0					1																	197070918		2203	4298	6501	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197070918T>G	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7463A>C	1.37:g.197070918T>G	ENSP00000356379:p.Gln2488Pro					ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.Q336P	p.Q2488P	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	7720	-			2488			IQ 26.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.7463A>C	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	t	19.18	3.777530	0.70107	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.80653	-1.4	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000002	D	0.91402	0.7287	M	0.91768	3.24	0.80722	D	1	D;D	0.89917	0.964;1.0	P;D	0.91635	0.701;0.999	D	0.93372	0.6736	10	0.87932	D	0	.	14.6927	0.69098	0.0:0.0:0.0:1.0	.	474;2488	E7EQ84;Q8IZT6	.;ASPM_HUMAN	P	2488;474	ENSP00000356379:Q2488P	ENSP00000356376:Q474P	Q	-	2	0	ASPM	195337541	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	7.830000	0.86741	1.904000	0.55121	0.456000	0.33151	CAG		0.363	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		15	112	0	0	0	0	15	112				
KIF21B	23046	broad.mit.edu	37	1	200944027	200944027	+	Silent	SNP	C	C	T	rs140999969		TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:200944027C>T	ENST00000422435.2	-	34	4945	c.4629G>A	c.(4627-4629)gcG>gcA	p.A1543A	KIF21B_ENST00000332129.2_Silent_p.A1530A|KIF21B_ENST00000461742.2_Silent_p.A1543A|KIF21B_ENST00000360529.5_Silent_p.A1530A	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1543					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AGTCCTTGTGCGCATTGGGGA	0.642													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19689	0.0		0.0	False		,,,				2504	0.0					uc001gvs.1		NA																	0				ovary(3)|skin(3)	6						c.(4627-4629)GCG>GCA		kinesin family member 21B		C		0,4406		0,0,2203	79.0	80.0	80.0		4590	-9.4	0.1	1	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIF21B	NM_017596.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1530/1625	200944027	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200944027C>T	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.4629G>A	1.37:g.200944027C>T						KIF21B_uc001gvr.1_Silent_p.A1530A|KIF21B_uc009wzl.1_Silent_p.A1543A|KIF21B_uc010ppn.1_Silent_p.A1530A	p.A1543A	NM_017596	NP_060066	O75037	KI21B_HUMAN			34	4946	-			1543			WD 6.		B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	c.4629G>A	CCDS58056.1																																																																																				0.642	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		16	131	0	0	0	0	16	131				
CNTN2	6900	broad.mit.edu	37	1	205034931	205034931	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:205034931G>A	ENST00000331830.4	+	14	1994	c.1710G>A	c.(1708-1710)ggG>ggA	p.G570G		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	570	Ig-like C2-type 6.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGACCATTGGGGATCTGACCA	0.642																																					Melanoma(183;2548 2817 37099 41192)	uc001hbr.2		NA																	0				ovary(1)	1						c.(1708-1710)GGG>GGA		contactin 2 precursor							83.0	73.0	76.0					1																	205034931		2203	4300	6503	SO:0001819	synonymous_variant	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205034931G>A	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1710G>A	1.37:g.205034931G>A						CNTN2_uc001hbq.1_Silent_p.G461G|CNTN2_uc001hbs.2_Silent_p.G358G	p.G570G	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		14	1979	+	all_cancers(21;0.144)|Breast(84;0.0437)		570			Ig-like C2-type 6.		P78432|Q5T054	Silent	SNP	ENST00000331830.4	37	c.1710G>A	CCDS1449.1																																																																																				0.642	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		9	71	0	0	0	0	9	71				
DSTYK	25778	broad.mit.edu	37	1	205130494	205130494	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:205130494G>A	ENST00000367162.3	-	7	1870	c.1840C>T	c.(1840-1842)Cgg>Tgg	p.R614W	DSTYK_ENST00000367160.4_Intron|DSTYK_ENST00000367161.3_Missense_Mutation_p.R614W	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	614					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TTCTCTAACCGGCCTGAGTGG	0.483																																						uc001hbw.2		NA																	0				lung(1)	1						c.(1840-1842)CGG>TGG		receptor interacting protein kinase 5 isoform 1							77.0	69.0	72.0					1																	205130494		2203	4300	6503	SO:0001583	missense	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205130494G>A	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.1840C>T	1.37:g.205130494G>A	ENSP00000356130:p.Arg614Trp					DSTYK_uc001hbx.2_Missense_Mutation_p.R614W|DSTYK_uc001hby.1_Missense_Mutation_p.R75W	p.R614W	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN			7	1904	-			614					B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	ENST00000367162.3	37	c.1840C>T	CCDS1451.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636927	0.87760	.	.	ENSG00000133059	ENST00000367161;ENST00000367162	T;T	0.80909	-1.4;-1.43	5.64	4.67	0.58626	.	0.000000	0.85682	D	0.000000	D	0.87446	0.6179	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.996	D	0.88223	0.2898	10	0.87932	D	0	-23.6253	13.6987	0.62595	0.0:0.0:0.775:0.225	.	75;614;614	Q6XUX3-4;Q6XUX3-2;Q6XUX3	.;.;DUSTY_HUMAN	W	614	ENSP00000356129:R614W;ENSP00000356130:R614W	ENSP00000356129:R614W	R	-	1	2	DSTYK	203397117	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.360000	0.59455	2.654000	0.90174	0.563000	0.77884	CGG		0.483	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		26	76	0	0	0	0	26	76				
DISP1	84976	broad.mit.edu	37	1	223177961	223177961	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:223177961C>T	ENST00000284476.6	+	8	3386	c.3222C>T	c.(3220-3222)ttC>ttT	p.F1074F		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1074					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AAGTGATCTTCTCTCTGAGTC	0.587																																						uc001hnu.1		NA																	0					0						c.(3220-3222)TTC>TTT		dispatched A							81.0	77.0	79.0					1																	223177961		2203	4300	6503	SO:0001819	synonymous_variant	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223177961C>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.3222C>T	1.37:g.223177961C>T							p.F1074F	NM_032890	NP_116279	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	3369	+			1074					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	ENST00000284476.6	37	c.3222C>T	CCDS1536.1																																																																																				0.587	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		24	78	0	0	0	0	24	78				
WNT3A	89780	broad.mit.edu	37	1	228210572	228210572	+	Silent	SNP	C	C	T	rs201572822	byFrequency	TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:228210572C>T	ENST00000284523.1	+	2	354	c.276C>T	c.(274-276)caC>caT	p.H92H	WNT3A_ENST00000366753.2_Silent_p.H92H	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	92					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|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)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CCACCGTCCACGACAGCCTGG	0.652													C|||	3	0.000599042	0.0023	0.0	5008	,	,		17852	0.0		0.0	False		,,,				2504	0.0					uc001hrq.1		NA																	0				ovary(1)	1						c.(274-276)CAC>CAT		wingless-type MMTV integration site family,		C		2,4404	794.4+/-415.3	0,2,2201	42.0	44.0	43.0		276	1.5	1.0	1		43	1,8599	795.0+/-407.5	0,1,4299	no	coding-synonymous	WNT3A	NM_033131.3		0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231		92/353	228210572	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	89780				axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	g.chr1:228210572C>T	AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.276C>T	1.37:g.228210572C>T						WNT3A_uc001hrp.1_Silent_p.H92H	p.H92H	NM_033131	NP_149122	P56704	WNT3A_HUMAN			2	354	+		Prostate(94;0.0405)	92					Q3SY79|Q3SY80|Q969P2	Silent	SNP	ENST00000284523.1	37	c.276C>T	CCDS1564.1																																																																																				0.652	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	NM_033131		14	77	0	0	0	0	14	77				
FMN2	56776	broad.mit.edu	37	1	240555811	240555811	+	Splice_Site	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr1:240555811C>A	ENST00000319653.9	+	15	5089	c.4859C>A	c.(4858-4860)gCc>gAc	p.A1620D	FMN2_ENST00000545751.1_Splice_Site_p.A216D	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1620	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCACTTTCAGCCAAAATTGAC	0.328																																						uc010pyd.1		NA																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(4858-4860)GCC>GAC		formin 2							115.0	124.0	121.0					1																	240555811		2203	4300	6503	SO:0001630	splice_region_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240555811C>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4859-1C>A	1.37:g.240555811C>A						FMN2_uc010pye.1_Missense_Mutation_p.A1624D|FMN2_uc010pyf.1_Missense_Mutation_p.A235D|FMN2_uc010pyg.1_Missense_Mutation_p.A216D	p.A1620D	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		15	5084	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1620			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.4859C>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355797	0.61293	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355;ENST00000406993	T;T	0.25749	1.78;1.78	5.47	5.47	0.80525	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.56097	D	0.000022	T	0.58264	0.2110	M	0.88570	2.965	0.80722	D	1	P;P;P;D	0.89917	0.669;0.866;0.669;1.0	B;B;B;D	0.87578	0.355;0.178;0.355;0.998	T	0.64816	-0.6318	9	.	.	.	.	16.071	0.80936	0.0:1.0:0.0:0.0	.	216;235;249;1620	B4DP05;F5H2C1;B4DN09;Q9NZ56	.;.;.;FMN2_HUMAN	D	1620;216;247;96	ENSP00000318884:A1620D;ENSP00000437918:A216D	.	A	+	2	0	FMN2	238622434	1.000000	0.71417	1.000000	0.80357	0.531000	0.34715	4.299000	0.59073	2.571000	0.86741	0.650000	0.86243	GCC		0.328	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	Missense_Mutation	29	100	1	0	1.16e-09	2.05e-09	29	100				
GPR158	57512	broad.mit.edu	37	10	25887168	25887168	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr10:25887168G>T	ENST00000376351.3	+	11	2972	c.2613G>T	c.(2611-2613)gaG>gaT	p.E871D	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	871					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGTCCACGGAGTCGGTGCCGT	0.498																																						uc001isj.2		NA																	0				ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(2611-2613)GAG>GAT		G protein-coupled receptor 158 precursor							86.0	90.0	89.0					10																	25887168		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887168G>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2613G>T	10.37:g.25887168G>T	ENSP00000365529:p.Glu871Asp					GPR158_uc001isk.2_Missense_Mutation_p.E246D	p.E871D	NM_020752	NP_065803	Q5T848	GP158_HUMAN			11	2673	+			871			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2613G>T	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701820	0.30232	.	.	ENSG00000151025	ENST00000376351	T	0.62364	0.03	5.79	3.94	0.45596	.	0.176096	0.38436	N	0.001700	T	0.44891	0.1315	L	0.41236	1.265	0.40397	D	0.979602	B	0.15141	0.012	B	0.14578	0.011	T	0.32241	-0.9914	10	0.17369	T	0.5	.	3.8591	0.08988	0.2652:0.1901:0.5447:0.0	.	871	Q5T848	GP158_HUMAN	D	871	ENSP00000365529:E871D	ENSP00000365529:E871D	E	+	3	2	GPR158	25927174	1.000000	0.71417	0.987000	0.45799	0.422000	0.31414	2.592000	0.46171	1.455000	0.47813	0.650000	0.86243	GAG		0.498	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		28	78	1	0	5.62e-17	1.01e-16	28	78				
DNA2	1763	broad.mit.edu	37	10	70225525	70225525	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr10:70225525G>A	ENST00000358410.3	-	4	536	c.486C>T	c.(484-486)ctC>ctT	p.L162L	DNA2_ENST00000399179.2_Silent_p.L162L|DNA2_ENST00000399180.2_Silent_p.L248L	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	162	Nuclease activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						ACACCTCATGGAGAACCGTAC	0.358																																						uc001jof.2		NA																	0					0						c.(742-744)CTC>CTT		DNA replication helicase 2 homolog							66.0	63.0	64.0					10																	70225525		1839	4100	5939	SO:0001819	synonymous_variant	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70225525G>A	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.486C>T	10.37:g.70225525G>A						DNA2_uc001jog.1_Silent_p.L162L|DNA2_uc001joh.1_RNA	p.L248L	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN			4	744	-			162					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Silent	SNP	ENST00000358410.3	37	c.744C>T																																																																																					0.358	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			6	25	0	0	0	0	6	25				
PKD2L1	9033	broad.mit.edu	37	10	102048805	102048805	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr10:102048805T>A	ENST00000318222.3	-	15	2641	c.2259A>T	c.(2257-2259)caA>caT	p.Q753H	BLOC1S2_ENST00000441611.1_5'Flank|PKD2L1_ENST00000353274.3_Intron|PKD2L1_ENST00000338519.3_Missense_Mutation_p.Q678H|BLOC1S2_ENST00000370372.2_5'Flank|BLOC1S2_ENST00000361832.2_5'Flank	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	753	Required for protein homotrimerization.				cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TCCAAATAGCTTGTTCCTTCT	0.507																																						uc001kqx.1		NA																	0				ovary(4)	4						c.(2257-2259)CAA>CAT		polycystic kidney disease 2-like 1							46.0	53.0	50.0					10																	102048805		2203	4300	6503	SO:0001583	missense	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102048805T>A	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.2259A>T	10.37:g.102048805T>A	ENSP00000325296:p.Gln753His					BLOC1S2_uc001kqv.1_5'Flank|BLOC1S2_uc001kqw.1_5'Flank|PKD2L1_uc009xwm.1_Missense_Mutation_p.Q706H	p.Q753H	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	15	2642	-		Colorectal(252;0.117)	753			Cytoplasmic (Potential).		O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	c.2259A>T	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	T	15.51	2.854189	0.51270	.	.	ENSG00000107593	ENST00000338519;ENST00000318222;ENST00000339977	T;T	0.59502	0.4;0.26	3.92	3.92	0.45320	.	0.454335	0.20648	N	0.088272	T	0.45034	0.1322	L	0.36672	1.1	0.43598	D	0.995957	B;B	0.33379	0.41;0.41	B;B	0.31869	0.137;0.088	T	0.49744	-0.8907	10	0.56958	D	0.05	-0.201	9.439	0.38657	0.0:0.0:0.0:1.0	.	706;753	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	H	678;753;751	ENSP00000345068:Q678H;ENSP00000325296:Q753H	ENSP00000325296:Q753H	Q	-	3	2	PKD2L1	102038795	0.366000	0.25014	0.287000	0.24848	0.354000	0.29330	1.048000	0.30379	2.006000	0.58801	0.397000	0.26171	CAA		0.507	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		27	31	0	0	0	0	27	31				
TDRD1	56165	broad.mit.edu	37	10	115985910	115985910	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr10:115985910G>A	ENST00000369280.1	+	22	3570	c.3110G>A	c.(3109-3111)aGa>aAa	p.R1037K	TDRD1_ENST00000369282.1_Missense_Mutation_p.R1037K|TDRD1_ENST00000422662.1_Missense_Mutation_p.R641K|TDRD1_ENST00000251864.2_Missense_Mutation_p.R1037K|TDRD1_ENST00000369281.2_Missense_Mutation_p.R923K			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1037	Tudor 4. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CCTCTTTGCAGAGTGCAACCA	0.438																																						uc001lbg.1		NA																	0					0						c.(3109-3111)AGA>AAA		tudor domain containing 1							117.0	105.0	109.0					10																	115985910		2203	4300	6503	SO:0001583	missense	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115985910G>A	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.3110G>A	10.37:g.115985910G>A	ENSP00000358286:p.Arg1037Lys					TDRD1_uc001lbf.2_Missense_Mutation_p.R914K|TDRD1_uc001lbh.1_Missense_Mutation_p.R1024K|TDRD1_uc001lbi.1_Missense_Mutation_p.R1028K|TDRD1_uc010qsc.1_Missense_Mutation_p.R641K|TDRD1_uc001lbj.2_Missense_Mutation_p.R746K	p.R1037K	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	22	3263	+		Colorectal(252;0.172)|Breast(234;0.188)	1037			Tudor 4.		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37	c.3110G>A		.	.	.	.	.	.	.	.	.	.	G	15.79	2.935943	0.52972	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.10860	2.83;2.83;2.83;2.83;2.83	6.01	6.01	0.97437	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.225048	0.42294	D	0.000737	T	0.26629	0.0651	M	0.64567	1.98	0.28364	N	0.920304	P;D;D;D;D	0.71674	0.911;0.997;0.998;0.996;0.987	P;D;D;D;P	0.80764	0.756;0.992;0.994;0.987;0.879	T	0.11324	-1.0592	10	0.18276	T	0.48	-28.0209	12.3323	0.55046	0.0829:0.0:0.9171:0.0	.	641;1037;923;1037;923	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	K	1037;1037;923;641;1037	ENSP00000358288:R1037K;ENSP00000251864:R1037K;ENSP00000358287:R923K;ENSP00000402794:R641K;ENSP00000358286:R1037K	ENSP00000251864:R1037K	R	+	2	0	TDRD1	115975900	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	4.354000	0.59417	2.861000	0.98227	0.650000	0.86243	AGA		0.438	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			13	44	0	0	0	0	13	44				
OR51A4	401666	broad.mit.edu	37	11	4967807	4967807	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr11:4967807T>C	ENST00000380373.2	-	1	549	c.524A>G	c.(523-525)cAa>cGa	p.Q175R	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGGATAATTGGTTTTTCTT	0.413																																						uc010qys.1		NA																	0				ovary(2)|skin(1)	3						c.(523-525)CAA>CGA		olfactory receptor, family 51, subfamily A,							149.0	141.0	144.0					11																	4967807		2189	4276	6465	SO:0001583	missense	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967807T>C	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.524A>G	11.37:g.4967807T>C	ENSP00000369731:p.Gln175Arg						p.Q175R	NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	524	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	175			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000380373.2	37	c.524A>G	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	T	9.118	1.008314	0.19199	.	.	ENSG00000205497	ENST00000380373	T	0.37058	1.22	3.44	-3.06	0.05379	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.23370	0.0565	L	0.28694	0.88	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.26677	-1.0096	9	0.72032	D	0.01	.	7.3311	0.26584	0.6685:0.0:0.1288:0.2026	.	175	Q8NGJ6	O51A4_HUMAN	R	175	ENSP00000369731:Q175R	ENSP00000369731:Q175R	Q	-	2	0	OR51A4	4924383	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-0.677000	0.05215	-0.731000	0.04862	0.392000	0.25879	CAA		0.413	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		48	73	0	0	0	0	48	73				
NRIP3	56675	broad.mit.edu	37	11	9009124	9009124	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr11:9009124G>A	ENST00000309166.3	-	3	506	c.393C>T	c.(391-393)ctC>ctT	p.L131L	NRIP3_ENST00000531090.1_Silent_p.L131L	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	131							aspartic-type endopeptidase activity (GO:0004190)			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		CCAAAGAGATGAGATTATATA	0.453																																						uc001mhg.2		NA																	0					0						c.(391-393)CTC>CTT		nuclear receptor interacting protein 3							167.0	137.0	147.0					11																	9009124		2201	4296	6497	SO:0001819	synonymous_variant	56675				proteolysis		aspartic-type endopeptidase activity	g.chr11:9009124G>A	AJ400877	CCDS31422.1	11p15.3	2008-02-05	2003-09-03	2003-09-05	ENSG00000175352	ENSG00000175352			1167	protein-coding gene	gene with protein product		613125	"""chromosome 11 open reading frame 14"""	C11orf14		11528127	Standard	NM_020645		Approved		uc001mhg.2	Q9NQ35	OTTHUMG00000165680	ENST00000309166.3:c.393C>T	11.37:g.9009124G>A						NRIP3_uc010rbu.1_Silent_p.L131L	p.L131L	NM_020645	NP_065696	Q9NQ35	NRIP3_HUMAN		Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)	3	507	-			131					Q86WD9	Silent	SNP	ENST00000309166.3	37	c.393C>T	CCDS31422.1																																																																																				0.453	NRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385774.1	NM_020645		18	82	0	0	0	0	18	82				
TRMT112	51504	broad.mit.edu	37	11	64084793	64084793	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr11:64084793G>A	ENST00000544844.1	-	2	680	c.123C>T	c.(121-123)ttC>ttT	p.F41F	TRMT112_ENST00000535750.1_5'UTR|TRMT112_ENST00000535126.1_Missense_Mutation_p.R58C|PRDX5_ENST00000265462.4_5'Flank|TRMT112_ENST00000539854.1_Silent_p.F41F|TRMT112_ENST00000308774.2_Silent_p.F41F|PRDX5_ENST00000352435.4_5'Flank|PRDX5_ENST00000347941.4_5'Flank			Q9UI30	TR112_HUMAN	tRNA methyltransferase 11-2 homolog (S. cerevisiae)	41	TRM112.				peptidyl-glutamine methylation (GO:0018364)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	protein methyltransferase activity (GO:0008276)			large_intestine(1)|upper_aerodigestive_tract(1)	2						TACGCGCCACGAAGTTGGGGT	0.632																																						uc001nzt.2		NA																	0					0						c.(121-123)TTC>TTT		tRNA methyltransferase 11-2 homolog							61.0	60.0	60.0					11																	64084793		2201	4297	6498	SO:0001819	synonymous_variant	51504				peptidyl-glutamine methylation	protein complex	protein binding|protein methyltransferase activity	g.chr11:64084793G>A	AF110774	CCDS8068.1, CCDS66113.1, CCDS73312.1	11q13.1	2013-07-23			ENSG00000173113	ENSG00000173113			26940	protein-coding gene	gene with protein product						11042152	Standard	NM_001286082		Approved	HSPC152, HSPC170, TRM112, TRMT11-2	uc001nzt.3	Q9UI30	OTTHUMG00000167848	ENST00000544844.1:c.123C>T	11.37:g.64084793G>A						PRDX5_uc001nzu.2_5'Flank|PRDX5_uc001nzv.2_5'Flank|PRDX5_uc001nzw.2_5'Flank|PRDX5_uc001nzx.2_5'Flank	p.F41F	NM_016404	NP_057488	Q9UI30	TR112_HUMAN			2	158	-			41			TRM112.		B2R539|J3KNG5|Q3MHC7|Q8N2Z4	Silent	SNP	ENST00000544844.1	37	c.123C>T	CCDS8068.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151766	0.38021	.	.	ENSG00000173113	ENST00000535126	T	0.65549	-0.16	3.6	2.68	0.31781	.	.	.	.	.	T	0.64962	0.2646	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65784	-0.6084	6	0.87932	D	0	.	5.7763	0.18281	0.2371:0.0:0.7629:0.0	.	.	.	.	C	58	ENSP00000444082:R58C	ENSP00000444082:R58C	R	-	1	0	TRMT112	63841369	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	3.299000	0.51826	1.090000	0.41315	0.655000	0.94253	CGT		0.632	TRMT112-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396598.2	NM_016404		35	44	0	0	0	0	35	44				
P2RY2	5029	broad.mit.edu	37	11	72946234	72946234	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr11:72946234A>G	ENST00000311131.2	+	3	1497	c.1030A>G	c.(1030-1032)Act>Gct	p.T344A	P2RY2_ENST00000393596.2_Missense_Mutation_p.T344A|P2RY2_ENST00000393597.2_Missense_Mutation_p.T344A	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	344					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	ATCCGACAGAACTGACATGCA	0.632																																						uc001otj.2		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(1030-1032)ACT>GCT		purinergic receptor P2Y2	Suramin(DB04786)						60.0	62.0	61.0					11																	72946234		2198	4286	6484	SO:0001583	missense	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72946234A>G	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.1030A>G	11.37:g.72946234A>G	ENSP00000310305:p.Thr344Ala					P2RY2_uc001otk.2_Missense_Mutation_p.T344A|P2RY2_uc001otl.2_Missense_Mutation_p.T344A	p.T344A	NM_002564	NP_002555	P41231	P2RY2_HUMAN			3	1363	+			344			Cytoplasmic (Potential).		B2R9W3|Q96EM8	Missense_Mutation	SNP	ENST00000311131.2	37	c.1030A>G	CCDS8219.1	.	.	.	.	.	.	.	.	.	.	A	1.199	-0.633098	0.03584	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.22945	1.93;1.93;1.93	4.07	1.48	0.22813	.	0.736603	0.11834	N	0.524916	T	0.12774	0.0310	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.23404	-1.0189	10	0.59425	D	0.04	.	7.883	0.29633	0.5792:0.4208:0.0:0.0	.	344	P41231	P2RY2_HUMAN	A	344	ENSP00000377222:T344A;ENSP00000310305:T344A;ENSP00000377221:T344A	ENSP00000310305:T344A	T	+	1	0	P2RY2	72623882	0.000000	0.05858	0.016000	0.15963	0.031000	0.12232	0.725000	0.25970	0.702000	0.31825	-0.488000	0.04728	ACT		0.632	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		18	153	0	0	0	0	18	153				
ZC3H12C	85463	broad.mit.edu	37	11	110035195	110035195	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr11:110035195G>A	ENST00000278590.3	+	6	1436	c.1385G>A	c.(1384-1386)gGa>gAa	p.G462E	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.G463E|ZC3H12C_ENST00000453089.2_Missense_Mutation_p.G431E	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	462							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GCAAACGAAGGAGGACTGGTG	0.493																																						uc009yxw.2		NA																	0					0						c.(1384-1386)GGA>GAA		zinc finger CCCH-type containing 12C							84.0	85.0	85.0					11																	110035195		1943	4144	6087	SO:0001583	missense	85463						endonuclease activity|nucleic acid binding|zinc ion binding	g.chr11:110035195G>A		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.1385G>A	11.37:g.110035195G>A	ENSP00000278590:p.Gly462Glu					ZC3H12C_uc010rwc.1_Missense_Mutation_p.G463E|ZC3H12C_uc010rwd.1_Missense_Mutation_p.G463E|ZC3H12C_uc001pkr.3_Missense_Mutation_p.G431E	p.G462E	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)	6	1436	+		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	462					B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	c.1385G>A	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.453436	0.26161	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.33865	1.39;1.39;1.39	5.85	5.85	0.93711	.	0.174509	0.48767	D	0.000164	T	0.35068	0.0919	L	0.61218	1.895	0.39155	D	0.962293	P;B;B	0.42827	0.791;0.264;0.264	B;B;B	0.37650	0.255;0.03;0.03	T	0.18871	-1.0323	10	0.19590	T	0.45	-21.4843	14.9543	0.71101	0.0:0.0:0.8573:0.1427	.	463;462;462	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	E	462;463;431	ENSP00000278590:G462E;ENSP00000431821:G463E;ENSP00000413094:G431E	ENSP00000278590:G462E	G	+	2	0	ZC3H12C	109540405	1.000000	0.71417	0.997000	0.53966	0.254000	0.26022	4.537000	0.60643	2.771000	0.95319	0.561000	0.74099	GGA		0.493	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		25	30	0	0	0	0	25	30				
KCNJ5	3762	broad.mit.edu	37	11	128781799	128781799	+	Missense_Mutation	SNP	C	C	T	rs143790141		TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr11:128781799C>T	ENST00000338350.4	+	3	983	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	KCNJ5_ENST00000533599.1_Missense_Mutation_p.R211W|KCNJ5_ENST00000529694.1_Missense_Mutation_p.R211W			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	211					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)	CATCTCCATGCGGGACGAGAA	0.587																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	uc001qet.2		NA																	0				skin(1)	1						c.(631-633)CGG>TGG		potassium inwardly-rectifying channel J5	Glibenclamide(DB01016)	C	TRP/ARG	1,4401	2.1+/-5.4	0,1,2200	119.0	116.0	117.0		631	5.5	1.0	11	dbSNP_134	117	2,8592	2.2+/-6.3	0,2,4295	no	missense	KCNJ5	NM_000890.3	101	0,3,6495	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging	211/420	128781799	3,12993	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.chr11:128781799C>T	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.631C>T	11.37:g.128781799C>T	ENSP00000339960:p.Arg211Trp					KCNJ5_uc009zck.2_Missense_Mutation_p.R211W|KCNJ5_uc001qew.2_Missense_Mutation_p.R211W	p.R211W	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	945	+	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)	211			Cytoplasmic (By similarity).		B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP	ENST00000338350.4	37	c.631C>T	CCDS8479.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917523	0.73098	2.27E-4	2.33E-4	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.95554	-3.74;-3.74;-3.74	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	0.98197	0.9404	H	0.94734	3.575	0.52099	D	0.999943	D	0.89917	1.0	D	0.97110	1.0	D	0.98847	1.0757	10	0.87932	D	0	.	12.4352	0.55595	0.2824:0.7176:0.0:0.0	.	211	P48544	IRK5_HUMAN	W	211	ENSP00000433295:R211W;ENSP00000339960:R211W;ENSP00000434266:R211W	ENSP00000339960:R211W	R	+	1	2	KCNJ5	128287009	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.087000	0.41653	2.556000	0.86216	0.561000	0.74099	CGG		0.587	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		18	65	0	0	0	0	18	65				
APLP2	334	broad.mit.edu	37	11	129979472	129979472	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr11:129979472A>T	ENST00000263574.5	+	2	326	c.254A>T	c.(253-255)gAa>gTa	p.E85V	APLP2_ENST00000539648.1_Intron|APLP2_ENST00000528499.1_Missense_Mutation_p.E85V|APLP2_ENST00000278756.7_Missense_Mutation_p.E95V|APLP2_ENST00000338167.5_Missense_Mutation_p.E85V|APLP2_ENST00000345598.5_Missense_Mutation_p.E85V|APLP2_ENST00000532456.1_3'UTR|APLP2_ENST00000543137.1_De_novo_Start_OutOfFrame	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	85					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GAAACAAAAGAAGAAGTTCTT	0.403																																						uc010sby.1		NA																	0				ovary(3)	3						c.(253-255)GAA>GTA		amyloid beta (A4) precursor-like protein 2							98.0	90.0	93.0					11																	129979472		2201	4297	6498	SO:0001583	missense	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:129979472A>T	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.254A>T	11.37:g.129979472A>T	ENSP00000263574:p.Glu85Val					APLP2_uc001qfp.2_Missense_Mutation_p.E85V|APLP2_uc001qfq.2_Missense_Mutation_p.E85V|APLP2_uc010sbz.1_Intron|APLP2_uc001qfr.2_Intron|APLP2_uc001qfs.2_Missense_Mutation_p.E85V|APLP2_uc001qfv.2_Missense_Mutation_p.E32V	p.E85V	NM_001642	NP_001633	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	2	411	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	85			Extracellular (Potential).		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	c.254A>T	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.841828	0.91197	.	.	ENSG00000084234	ENST00000530416;ENST00000533195;ENST00000533713;ENST00000528499;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756	D;D;D;D;D	0.94613	-3.47;-1.86;-3.45;-1.99;-1.99	5.93	5.93	0.95920	Amyloidogenic glycoprotein, extracellular (1);Amyloidogenic glycoprotein, heparin-binding (3);	0.000000	0.85682	D	0.000000	D	0.97198	0.9084	M	0.80028	2.48	0.80722	D	1	D;D;D;D;P	0.89917	0.997;0.997;1.0;0.997;0.511	D;D;D;D;P	0.87578	0.998;0.985;0.996;0.985;0.514	D	0.97781	1.0232	10	0.87932	D	0	-23.6275	15.5755	0.76380	1.0:0.0:0.0:0.0	.	85;85;85;85;85	Q06481;Q06481-2;Q06481-5;Q06481-4;Q06481-3	APLP2_HUMAN;.;.;.;.	V	32;110;70;85;85;85;85;95	ENSP00000435914:E85V;ENSP00000263574:E85V;ENSP00000263575:E85V;ENSP00000345444:E85V;ENSP00000278756:E95V	ENSP00000263574:E85V	E	+	2	0	APLP2	129484682	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.962000	0.93254	2.281000	0.76405	0.533000	0.62120	GAA		0.403	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642		14	21	0	0	0	0	14	21				
CACNA2D4	93589	broad.mit.edu	37	12	2027520	2027520	+	Missense_Mutation	SNP	C	C	A	rs528227884		TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr12:2027520C>A	ENST00000382722.5	-	1	482	c.120G>T	c.(118-120)atG>atT	p.M40I	CACNA2D4_ENST00000585732.1_Missense_Mutation_p.M40I|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.M40I|RP5-1096D14.3_ENST00000544163.1_RNA|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.M40I	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	40					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AGGCCACGGGCATTGGCTGGA	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16874	0.0		0.0	False		,,,				2504	0.0				Colon(2;101 179 21030 23310 28141)	uc001qjp.2		NA																	0				ovary(1)	1						c.(118-120)ATG>ATT		voltage-gated calcium channel alpha(2)delta-4							18.0	23.0	21.0					12																	2027520		1916	4133	6049	SO:0001583	missense	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:2027520C>A	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.120G>T	12.37:g.2027520C>A	ENSP00000372169:p.Met40Ile					CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.M40I	p.M40I	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	1	351	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	40			Extracellular (Potential).		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	c.120G>T	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	C	5.984	0.365431	0.11352	.	.	ENSG00000151062	ENST00000280663;ENST00000382722	T	0.05996	3.36	5.23	1.21	0.21127	.	4.731460	0.00424	N	0.000068	T	0.03959	0.0111	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37267	-0.9713	10	0.21540	T	0.41	.	5.223	0.15379	0.0:0.5932:0.1476:0.2592	.	40;40	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	I	40	ENSP00000372169:M40I	ENSP00000280663:M40I	M	-	3	0	CACNA2D4	1897781	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.578000	0.23773	0.216000	0.20781	-0.300000	0.09419	ATG		0.657	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			8	14	1	0	5.18e-06	8.94e-06	8	14				
LRRK2	120892	broad.mit.edu	37	12	40646775	40646775	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr12:40646775C>T	ENST00000298910.7	+	11	1303	c.1245C>T	c.(1243-1245)ttC>ttT	p.F415F	LRRK2_ENST00000343742.2_Silent_p.F415F	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	415					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGGAAGTTTTCCAGGCATCTG	0.363																																						uc001rmg.3		NA																	0				ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(1243-1245)TTC>TTT		leucine-rich repeat kinase 2							81.0	78.0	79.0					12																	40646775		2203	4300	6503	SO:0001819	synonymous_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40646775C>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1245C>T	12.37:g.40646775C>T						LRRK2_uc001rmh.1_Silent_p.F37F	p.F415F	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			11	1366	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	415					A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	c.1245C>T	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	7.320	0.616753	0.14129	.	.	ENSG00000188906	ENST00000416796	T	0.66460	-0.21	5.21	0.765	0.18470	.	.	.	.	.	T	0.49830	0.1580	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.19418	-1.0306	6	0.10111	T	0.7	.	8.0276	0.30446	0.0:0.5413:0.0:0.4587	.	.	.	.	S	207	ENSP00000398726:P207S	ENSP00000398726:P207S	P	+	1	0	LRRK2	38933042	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	0.773000	0.26661	0.314000	0.23086	-0.237000	0.12165	CCA		0.363	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		13	28	0	0	0	0	13	28				
APAF1	317	broad.mit.edu	37	12	99060002	99060002	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr12:99060002A>T	ENST00000551964.1	+	9	1965	c.1229A>T	c.(1228-1230)gAa>gTa	p.E410V	APAF1_ENST00000359972.2_Missense_Mutation_p.E399V|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000549007.1_Missense_Mutation_p.E410V|APAF1_ENST00000547045.1_Missense_Mutation_p.E410V|APAF1_ENST00000550527.1_Missense_Mutation_p.E399V|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000357310.1_Missense_Mutation_p.E410V|APAF1_ENST00000339433.3_Missense_Mutation_p.E410V	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	410	NB-ARC.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GAAACTGAAGAAGTTGAAGAC	0.348																																						uc001tfz.2		NA																	0				ovary(2)|lung(1)	3						c.(1228-1230)GAA>GTA		apoptotic peptidase activating factor 1 isoform	Adenosine triphosphate(DB00171)						168.0	170.0	169.0					12																	99060002		2203	4300	6503	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99060002A>T	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.1229A>T	12.37:g.99060002A>T	ENSP00000448165:p.Glu410Val					APAF1_uc001tfy.2_Missense_Mutation_p.E399V|APAF1_uc001tga.2_Missense_Mutation_p.E399V|APAF1_uc001tgb.2_Missense_Mutation_p.E410V|APAF1_uc001tgc.2_Intron	p.E410V	NM_181861	NP_863651	O14727	APAF_HUMAN			9	1806	+			410			NB-ARC.		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.1229A>T	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.589777	0.86851	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.62	5.62	0.85841	NB-ARC (1);	0.182210	0.64402	D	0.000017	D	0.84942	0.5584	L	0.55990	1.75	0.80722	D	1	D;P;D;D	0.67145	0.996;0.935;0.993;0.985	D;P;D;D	0.68943	0.959;0.709;0.918;0.961	D	0.85570	0.1233	10	0.52906	T	0.07	-11.5492	15.8261	0.78709	1.0:0.0:0.0:0.0	.	410;399;410;399	O14727-4;O14727-3;O14727;O14727-2	.;.;APAF_HUMAN;.	V	410;399;410;410;399;410;410	ENSP00000448165:E410V;ENSP00000353059:E399V;ENSP00000349862:E410V;ENSP00000341830:E410V;ENSP00000448449:E399V;ENSP00000449791:E410V;ENSP00000448161:E410V	ENSP00000341830:E410V	E	+	2	0	APAF1	97584133	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.675000	0.91195	2.138000	0.66242	0.477000	0.44152	GAA		0.348	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		19	68	0	0	0	0	19	68				
FLT1	2321	broad.mit.edu	37	13	28959102	28959102	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr13:28959102G>T	ENST00000282397.4	-	14	2287	c.2036C>A	c.(2035-2037)aCt>aAt	p.T679N	FLT1_ENST00000541932.1_Missense_Mutation_p.T679N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	679	Ig-like C2-type 7.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACAGTCTAAAGTGGTGGAACT	0.448																																						uc001usb.3		NA																	0				lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(2035-2037)ACT>AAT		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						219.0	196.0	203.0					13																	28959102		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28959102G>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2036C>A	13.37:g.28959102G>T	ENSP00000282397:p.Thr679Asn					FLT1_uc010aar.1_Missense_Mutation_p.T679N	p.T679N	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	14	2321	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	679			Ig-like C2-type 7.|Extracellular (Potential).		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.2036C>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.619755	0.28801	.	.	ENSG00000102755	ENST00000282397;ENST00000541932	T;T	0.45276	0.9;2.28	5.72	2.82	0.32997	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.433499	0.25475	N	0.030414	T	0.46776	0.1410	M	0.66378	2.025	0.58432	D	0.999999	D;P	0.59357	0.985;0.922	P;P	0.54590	0.756;0.649	T	0.38845	-0.9642	10	0.29301	T	0.29	.	4.4307	0.11525	0.2805:0.2841:0.4354:0.0	.	679;679	P17948-3;P17948	.;VGFR1_HUMAN	N	679	ENSP00000282397:T679N;ENSP00000437631:T679N	ENSP00000282397:T679N	T	-	2	0	FLT1	27857102	0.974000	0.33945	0.065000	0.19835	0.313000	0.28021	1.732000	0.38146	0.722000	0.32252	0.655000	0.94253	ACT		0.448	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			21	82	1	0	2.28e-05	3.92e-05	21	82				
SLITRK5	26050	broad.mit.edu	37	13	88327768	88327768	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr13:88327768A>T	ENST00000325089.6	+	2	344	c.125A>T	c.(124-126)gAt>gTt	p.D42V	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	42					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GAAACCATCGATTATTATGGG	0.453																																						uc001vln.2		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(124-126)GAT>GTT		SLIT and NTRK-like family, member 5 precursor							168.0	142.0	151.0					13																	88327768		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88327768A>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.125A>T	13.37:g.88327768A>T	ENSP00000366283:p.Asp42Val					SLITRK5_uc010tic.1_Intron	p.D42V	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	344	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		42			Extracellular (Potential).		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.125A>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	A	12.98	2.100984	0.37048	.	.	ENSG00000165300	ENST00000325089	T	0.58652	0.32	5.94	5.94	0.96194	.	0.173647	0.48767	D	0.000168	T	0.44726	0.1307	N	0.25485	0.75	0.80722	D	1	B	0.27068	0.167	B	0.26614	0.071	T	0.35276	-0.9795	9	.	.	.	-10.8589	14.3499	0.66694	1.0:0.0:0.0:0.0	.	42	O94991	SLIK5_HUMAN	V	42	ENSP00000366283:D42V	.	D	+	2	0	SLITRK5	87125769	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.148000	0.77389	2.279000	0.76181	0.459000	0.35465	GAT		0.453	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			23	133	0	0	0	0	23	133				
OR4M1	441670	broad.mit.edu	37	14	20248700	20248700	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr14:20248700C>G	ENST00000315957.4	+	1	300	c.219C>G	c.(217-219)taC>taG	p.Y73*		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATATTTGGTACTCTTCCATTA	0.423																																						uc010tku.1		NA																	0					0						c.(217-219)TAC>TAG		olfactory receptor, family 4, subfamily M,							288.0	307.0	300.0					14																	20248700		2203	4300	6503	SO:0001587	stop_gained	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248700C>G		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.219C>G	14.37:g.20248700C>G	ENSP00000319654:p.Tyr73*						p.Y73*	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	219	+	all_cancers(95;0.00108)		73			Helical; Name=2; (Potential).		B9EH18|Q6IFA3	Nonsense_Mutation	SNP	ENST00000315957.4	37	c.219C>G	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	20.9	4.072633	0.76415	.	.	ENSG00000176299	ENST00000315957	.	.	.	4.2	-1.55	0.08558	.	0.000000	0.42682	D	0.000665	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.958	8.9037	0.35510	0.0:0.5205:0.0:0.4795	.	.	.	.	X	73	.	ENSP00000319654:Y73X	Y	+	3	2	OR4M1	19318540	0.000000	0.05858	0.989000	0.46669	0.901000	0.52897	-3.224000	0.00551	-0.435000	0.07264	0.401000	0.26515	TAC		0.423	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			111	356	0	0	0	0	111	356				
DHRS4	10901	broad.mit.edu	37	14	24438079	24438079	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr14:24438079G>C	ENST00000313250.5	+	8	1039	c.836G>C	c.(835-837)tGa>tCa	p.*279S	DHRS4_ENST00000421831.1_Nonstop_Mutation_p.*227S|DHRS4_ENST00000559632.1_Nonstop_Mutation_p.*200S|DHRS4L2_ENST00000543805.1_5'Flank|DHRS4L2_ENST00000534993.1_5'Flank|DHRS4_ENST00000397074.3_Nonstop_Mutation_p.*159S|DHRS4_ENST00000558263.1_3'UTR|DHRS4_ENST00000308178.8_Nonstop_Mutation_p.*141S|DHRS4_ENST00000397073.2_Nonstop_Mutation_p.*182S|DHRS4_ENST00000558581.1_Nonstop_Mutation_p.*245S|DHRS4_ENST00000397075.3_Nonstop_Mutation_p.*193S	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	0					alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	TCCCGCCTCTGAGGACCGGGA	0.597																																						uc001wla.2		NA																	0				ovary(1)	1						c.(835-837)TGA>TCA		peroxisomal short-chain alcohol dehydrogenase	Vitamin A(DB00162)						14.0	16.0	15.0					14																	24438079		2196	4291	6487	SO:0001578	stop_lost	10901					mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity	g.chr14:24438079G>C	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	16985	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 2"""	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.836G>C	14.37:g.24438079G>C	ENSP00000326219:p.*279Serext*13					DHRS4_uc001wlb.2_Nonstop_Mutation_p.*245S|DHRS4_uc010akz.2_Nonstop_Mutation_p.*200S|DHRS4_uc001wlc.3_Intron|DHRS4L2_uc001wld.3_Intron|DHRS4L2_uc001wle.3_Intron|uc001wlf.2_5'Flank|DHRS4L2_uc001wlg.3_5'Flank|DHRS4L2_uc001wlh.3_5'Flank	p.*279S	NM_021004	NP_066284	Q9BTZ2	DHRS4_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	8	869	+			279					B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Nonstop_Mutation	SNP	ENST00000313250.5	37	c.836G>C	CCDS9605.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.661921	0.47572	.	.	ENSG00000157326	ENST00000313250;ENST00000421831;ENST00000397073;ENST00000308178;ENST00000397075;ENST00000397074	.	.	.	3.37	2.46	0.29980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5729	0.33581	0.1229:0.0:0.8771:0.0	.	.	.	.	S	279;227;182;141;193;159	.	.	X	+	2	2	DHRS4	23507919	1.000000	0.71417	0.993000	0.49108	0.264000	0.26372	3.326000	0.52037	0.515000	0.28320	0.430000	0.28490	TGA		0.597	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3			8	19	0	0	0	0	8	19				
MIS18BP1	55320	broad.mit.edu	37	14	45679706	45679706	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr14:45679706T>A	ENST00000310806.4	-	14	3487	c.3029A>T	c.(3028-3030)gAt>gTt	p.D1010V		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	1010	Poly-Asp.				CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						ATCATCATCATCTTCACTGTC	0.363																																						uc001wwf.2		NA																	0					0						c.(3028-3030)GAT>GTT		chromosome 14 open reading frame 106							119.0	109.0	113.0					14																	45679706		2203	4300	6503	SO:0001583	missense	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45679706T>A	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.3029A>T	14.37:g.45679706T>A	ENSP00000309790:p.Asp1010Val						p.D1010V	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN			14	3488	-			1010			Poly-Asp.		D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	c.3029A>T	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.199224	0.58126	.	.	ENSG00000129534	ENST00000310806	T	0.24151	1.87	5.34	4.19	0.49359	.	0.651273	0.15083	N	0.281533	T	0.21962	0.0529	L	0.42245	1.32	0.50039	D	0.999849	P	0.42827	0.791	B	0.38428	0.273	T	0.04454	-1.0950	10	0.72032	D	0.01	-10.9371	9.8514	0.41059	0.0:0.082:0.0:0.918	.	1010	Q6P0N0	M18BP_HUMAN	V	1010	ENSP00000309790:D1010V	ENSP00000309790:D1010V	D	-	2	0	MIS18BP1	44749456	1.000000	0.71417	0.996000	0.52242	0.930000	0.56654	3.052000	0.49893	2.129000	0.65627	0.460000	0.39030	GAT		0.363	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			29	62	0	0	0	0	29	62				
SIPA1L1	26037	broad.mit.edu	37	14	72191487	72191487	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr14:72191487G>A	ENST00000555818.1	+	17	4960	c.4612G>A	c.(4612-4614)Gaa>Aaa	p.E1538K	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E1517K|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E1517K|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.E992K|SIPA1L1_ENST00000554874.1_3'UTR	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1538					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GTCCACCATTGAAGAAGATCT	0.478																																						uc001xms.2		NA																	0				ovary(3)|breast(1)	4						c.(4612-4614)GAA>AAA		signal-induced proliferation-associated 1 like							92.0	84.0	87.0					14																	72191487		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72191487G>A	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4612G>A	14.37:g.72191487G>A	ENSP00000450832:p.Glu1538Lys					SIPA1L1_uc001xmt.2_Missense_Mutation_p.E1517K|SIPA1L1_uc001xmu.2_Missense_Mutation_p.E1517K|SIPA1L1_uc001xmv.2_Missense_Mutation_p.E1538K|SIPA1L1_uc010ttm.1_Missense_Mutation_p.E992K|SIPA1L1_uc001xmw.2_Missense_Mutation_p.E303K	p.E1538K	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	17	4960	+			1538					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.4612G>A	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841387	0.51057	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	5.54	4.63	0.57726	.	0.146968	0.64402	D	0.000011	T	0.34077	0.0885	N	0.21373	0.66	0.48696	D	0.999696	B;B;B;B;P	0.52692	0.018;0.166;0.09;0.053;0.955	B;B;B;B;P	0.51415	0.019;0.124;0.17;0.013;0.669	T	0.03750	-1.1007	10	0.19590	T	0.45	-22.9597	14.6222	0.68594	0.0:0.277:0.723:0.0	.	992;1538;992;1517;1538	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	K	1517;1538;1517;992	ENSP00000370630:E1517K;ENSP00000450832:E1538K;ENSP00000351352:E1517K;ENSP00000440682:E992K	ENSP00000351352:E1538K	E	+	1	0	SIPA1L1	71261240	1.000000	0.71417	0.983000	0.44433	0.923000	0.55619	5.949000	0.70257	1.293000	0.44690	0.655000	0.94253	GAA		0.478	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		13	57	0	0	0	0	13	57				
ESRRB	2103	broad.mit.edu	37	14	76948418	76948418	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr14:76948418G>A	ENST00000509242.1	+	5	672	c.574G>A	c.(574-576)Gag>Aag	p.E192K	ESRRB_ENST00000380887.2_Missense_Mutation_p.E192K|ESRRB_ENST00000556177.1_Missense_Mutation_p.E192K|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000261532.7_Missense_Mutation_p.E192K	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	192					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		GCTGGACTCAGAGAGCAGCCC	0.527																																						uc001xsq.1		NA																	0				ovary(1)|skin(1)	2						c.(574-576)GAG>AAG		estrogen-related receptor beta							87.0	81.0	83.0					14																	76948418		2203	4300	6503	SO:0001583	missense	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76948418G>A	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.574G>A	14.37:g.76948418G>A	ENSP00000422488:p.Glu192Lys					ESRRB_uc001xsr.2_Missense_Mutation_p.E192K|ESRRB_uc001xso.2_RNA	p.E192K	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	4	641	+			192					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	ENST00000509242.1	37	c.574G>A	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215526	0.79352	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000556177;ENST00000380887;ENST00000261532	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	5.22	4.32	0.51571	.	0.102803	0.64402	D	0.000003	T	0.52789	0.1756	M	0.72576	2.205	0.58432	D	0.999999	P;P	0.41420	0.749;0.749	B;B	0.43867	0.434;0.434	T	0.61247	-0.7101	10	0.72032	D	0.01	.	14.1721	0.65517	0.0732:0.0:0.9268:0.0	.	192;197	Q5F0P7;E7EWD9	.;.	K	197;192;192;192;192	ENSP00000424992:E197K;ENSP00000422488:E192K;ENSP00000451658:E192K;ENSP00000370270:E192K;ENSP00000261532:E192K	ENSP00000261532:E192K	E	+	1	0	ESRRB	76018171	1.000000	0.71417	0.953000	0.39169	0.971000	0.66376	9.869000	0.99810	2.436000	0.82500	0.655000	0.94253	GAG		0.527	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			5	59	0	0	0	0	5	59				
EIF2AK4	440275	broad.mit.edu	37	15	40268785	40268785	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr15:40268785G>A	ENST00000263791.5	+	12	2032	c.1989G>A	c.(1987-1989)gcG>gcA	p.A663A	EIF2AK4_ENST00000382727.2_Silent_p.A663A	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	663	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AGCGGCCGGCGGGACCGGGGA	0.692																																						uc001zkm.1		NA																	0				lung(2)|stomach(1)|skin(1)	4						c.(1987-1989)GCG>GCA		eukaryotic translation initiation factor 2 alpha							12.0	14.0	13.0					15																	40268785		1874	4063	5937	SO:0001819	synonymous_variant	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40268785G>A	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.1989G>A	15.37:g.40268785G>A						EIF2AK4_uc010bbj.1_Silent_p.A392A	p.A663A	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	12	2039	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	663			Protein kinase 2.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Silent	SNP	ENST00000263791.5	37	c.1989G>A	CCDS42016.1																																																																																				0.692	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			8	29	0	0	0	0	8	29				
PLCB2	5330	broad.mit.edu	37	15	40581116	40581116	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr15:40581116G>A	ENST00000260402.3	-	32	3607	c.3358C>T	c.(3358-3360)Cag>Tag	p.Q1120*	PLCB2_ENST00000456256.2_Nonsense_Mutation_p.Q1105*|PLCB2_ENST00000557821.1_Nonsense_Mutation_p.Q1116*	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1120					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GCCTCCTTCTGGAACTGTGGA	0.632																																						uc001zld.2		NA																	0				ovary(3)|breast(3)|kidney(1)|pancreas(1)	8						c.(3358-3360)CAG>TAG		phospholipase C, beta 2							40.0	44.0	43.0					15																	40581116		1999	4169	6168	SO:0001587	stop_gained	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40581116G>A		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.3358C>T	15.37:g.40581116G>A	ENSP00000260402:p.Gln1120*					PLCB2_uc001zlc.2_Nonsense_Mutation_p.Q104*|PLCB2_uc010bbo.2_Nonsense_Mutation_p.Q1116*|PLCB2_uc010ucm.1_Nonsense_Mutation_p.Q1105*	p.Q1120*	NM_004573	NP_004564	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	32	3659	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	1120			Potential.		A8K6J2|B9EGH5	Nonsense_Mutation	SNP	ENST00000260402.3	37	c.3358C>T	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	G	44	10.760475	0.99462	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	.	.	.	5.55	4.62	0.57501	.	0.306973	0.31257	N	0.007972	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	13.1582	0.59531	0.0:0.0:0.8401:0.1599	.	.	.	.	X	1120;1105	.	ENSP00000260402:Q1120X	Q	-	1	0	PLCB2	38368408	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.532000	0.53553	1.339000	0.45563	0.561000	0.74099	CAG		0.632	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			5	58	0	0	0	0	5	58				
SLC12A1	6557	broad.mit.edu	37	15	48500135	48500135	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr15:48500135C>A	ENST00000558405.1	+	1	233	c.219C>A	c.(217-219)ttC>ttA	p.F73L	SLC12A1_ENST00000330289.6_Missense_Mutation_p.F73L|SLC12A1_ENST00000380993.3_Missense_Mutation_p.F73L|SLC12A1_ENST00000396577.3_Missense_Mutation_p.F73L|SLC12A1_ENST00000561031.1_Missense_Mutation_p.F73L			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	73					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ATGACAATTTCCTCCAAAGTG	0.428																																						uc001zwn.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(217-219)TTC>TTA		sodium potassium chloride cotransporter 2	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						101.0	100.0	100.0					15																	48500135		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48500135C>A		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.219C>A	15.37:g.48500135C>A	ENSP00000453409:p.Phe73Leu					SLC12A1_uc010uew.1_Intron|SLC12A1_uc010bem.2_Missense_Mutation_p.F73L|SLC12A1_uc010uex.1_Missense_Mutation_p.F73L	p.F73L	NM_000338	NP_000329	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	2	435	+		all_lung(180;0.00219)	73			Cytoplasmic (Potential).		A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.219C>A	CCDS10129.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.112|9.112	1.006758|1.006758	0.19199|0.19199	.|.	.|.	ENSG00000074803|ENSG00000074803	ENST00000380993;ENST00000396577;ENST00000330289|ENST00000546071	D;D;D|.	0.90788|.	-1.83;-1.83;-2.73|.	5.45|5.45	2.37|2.37	0.29283|0.29283	.|.	0.083116|.	0.51477|.	D|.	0.000082|.	T|T	0.28732|0.28732	0.0712|0.0712	N|N	0.08118|0.08118	0|0	0.37669|0.37669	D|D	0.923062|0.923062	P;B|.	0.41546|.	0.754;0.036|.	B;B|.	0.37692|.	0.256;0.017|.	T|T	0.19289|0.19289	-1.0310|-1.0310	10|6	0.09843|0.87932	T|D	0.71|0	.|.	4.7691|4.7691	0.13146|0.13146	0.0:0.517:0.1482:0.3348|0.0:0.517:0.1482:0.3348	.|.	73;73|.	Q8IUN5;Q13621|.	.;S12A1_HUMAN|.	L|Y	73|47	ENSP00000370381:F73L;ENSP00000379822:F73L;ENSP00000331550:F73L|.	ENSP00000331550:F73L|ENSP00000441148:S47Y	F|S	+|+	3|2	2|0	SLC12A1|SLC12A1	46287427|46287427	0.664000|0.664000	0.27457|0.27457	0.998000|0.998000	0.56505|0.56505	0.993000|0.993000	0.82548|0.82548	-0.193000|-0.193000	0.09573|0.09573	0.201000|0.201000	0.20466|0.20466	0.563000|0.563000	0.77884|0.77884	TTC|TCC		0.428	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			13	58	1	0	2.62e-11	4.66e-11	13	58				
PRTG	283659	broad.mit.edu	37	15	55931883	55931883	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr15:55931883G>T	ENST00000389286.4	-	13	2328	c.2281C>A	c.(2281-2283)Cct>Act	p.P761T		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AGGCCAACAGGATTACAGCGG	0.478																																						uc002adg.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(2281-2283)CCT>ACT		protogenin precursor							141.0	149.0	146.0					15																	55931883		2036	4205	6241	SO:0001583	missense	283659				multicellular organismal development	integral to membrane		g.chr15:55931883G>T	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.2281C>A	15.37:g.55931883G>T	ENSP00000373937:p.Pro761Thr						p.P761T	NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	13	2329	-			761			Fibronectin type-III 4.			Missense_Mutation	SNP	ENST00000389286.4	37	c.2281C>A	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759854	0.89932	.	.	ENSG00000166450	ENST00000389286	T	0.57752	0.38	5.81	5.81	0.92471	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67933	0.2946	L	0.45228	1.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68450	-0.5405	10	0.72032	D	0.01	-20.5688	19.072	0.93143	0.0:0.0:1.0:0.0	.	761	Q2VWP7	PRTG_HUMAN	T	761	ENSP00000373937:P761T	ENSP00000373937:P761T	P	-	1	0	PRTG	53719175	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.119000	0.94362	2.741000	0.93983	0.655000	0.94253	CCT		0.478	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		16	82	1	0	3.33e-07	5.8e-07	16	82				
SLTM	79811	broad.mit.edu	37	15	59185178	59185178	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr15:59185178G>A	ENST00000380516.2	-	14	1903	c.1816C>T	c.(1816-1818)Cct>Tct	p.P606S	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Missense_Mutation_p.P175S	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	606	Arg/Glu-rich.			P -> S (in Ref. 3; AAH14944). {ECO:0000305}.	apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTTTCAAAAGGCAAGATCTCT	0.368																																						uc002afp.2		NA																	0				ovary(1)	1						c.(1816-1818)CCT>TCT		modulator of estrogen induced transcription							137.0	131.0	133.0					15																	59185178		2192	4292	6484	SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59185178G>A	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.1816C>T	15.37:g.59185178G>A	ENSP00000369887:p.Pro606Ser					SLTM_uc002afn.2_Missense_Mutation_p.P148S|SLTM_uc002afo.2_Missense_Mutation_p.P588S|SLTM_uc002afq.2_Missense_Mutation_p.P175S|SLTM_uc010bgd.2_Missense_Mutation_p.P175S	p.P606S	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN			14	1904	-			606	P -> S (in Ref. 3; AAH14944).		Arg/Glu-rich.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.1816C>T	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	G	6.269	0.417693	0.11870	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328	T	0.09163	3.01	5.76	4.84	0.62591	.	0.000000	0.64402	D	0.000019	T	0.11281	0.0275	L	0.27053	0.805	0.58432	D	0.999997	D;D	0.61697	0.99;0.985	P;P	0.52066	0.588;0.689	T	0.03394	-1.1041	10	0.02654	T	1	.	13.9714	0.64242	0.0:0.0:0.7241:0.2759	.	606;175	Q9NWH9;A8K5V8	SLTM_HUMAN;.	S	606;172;175	ENSP00000369887:P606S	ENSP00000369887:P606S	P	-	1	0	SLTM	56972470	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	6.183000	0.72002	1.436000	0.47453	-0.158000	0.13435	CCT		0.368	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		12	38	0	0	0	0	12	38				
LARP6	55323	broad.mit.edu	37	15	71124564	71124564	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr15:71124564T>A	ENST00000299213.8	-	3	1373	c.1303A>T	c.(1303-1305)Agg>Tgg	p.R435W	RP11-138H8.7_ENST00000592096.1_lincRNA	NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	435					regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						TGGCGACGCCTCCGGACCCAG	0.612																																						uc002ass.2		NA																	0					0						c.(1303-1305)AGG>TGG		La ribonucleoprotein domain family, member 6							64.0	66.0	65.0					15																	71124564		2199	4297	6496	SO:0001583	missense	55323				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr15:71124564T>A	BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"""La ribonucleoprotein domain containing"""	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.1303A>T	15.37:g.71124564T>A	ENSP00000299213:p.Arg435Trp						p.R435W	NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN			3	1374	-			435					Q5XKE4|Q8N3N2|Q9NUR0	Missense_Mutation	SNP	ENST00000299213.8	37	c.1303A>T	CCDS32281.1	.	.	.	.	.	.	.	.	.	.	T	18.37	3.608406	0.66558	.	.	ENSG00000166173	ENST00000299213	T	0.68479	-0.33	4.77	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.77598	0.4154	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77838	-0.2439	10	0.87932	D	0	-30.8877	9.6009	0.39603	0.0:0.0:0.1959:0.8041	.	435	Q9BRS8	LARP6_HUMAN	W	435	ENSP00000299213:R435W	ENSP00000299213:R435W	R	-	1	2	LARP6	68911618	1.000000	0.71417	0.987000	0.45799	0.989000	0.77384	1.772000	0.38552	0.845000	0.35118	0.454000	0.30748	AGG		0.612	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417197.2	NM_018357		44	80	0	0	0	0	44	80				
ISLR	3671	broad.mit.edu	37	15	74467616	74467616	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr15:74467616C>T	ENST00000249842.3	+	2	774	c.417C>T	c.(415-417)cgC>cgT	p.R139R	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Silent_p.R139R	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	139					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TCATCCCCCGCGACGCCTTCC	0.612																																						uc002axg.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(415-417)CGC>CGT		immunoglobulin superfamily containing							83.0	82.0	82.0					15																	74467616		2198	4297	6495	SO:0001819	synonymous_variant	3671				cell adhesion	extracellular region		g.chr15:74467616C>T	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.417C>T	15.37:g.74467616C>T						ISLR_uc002axh.1_Silent_p.R139R	p.R139R	NM_005545	NP_005536	O14498	ISLR_HUMAN			2	699	+			139			LRR 4.			Silent	SNP	ENST00000249842.3	37	c.417C>T	CCDS10260.1																																																																																				0.612	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		18	63	0	0	0	0	18	63				
SPATA8	145946	broad.mit.edu	37	15	97327425	97327425	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr15:97327425C>T	ENST00000328504.3	+	2	399	c.132C>T	c.(130-132)tgC>tgT	p.C44C	SPATA8_ENST00000558553.1_Missense_Mutation_p.R4W|SPATA8-AS1_ENST00000558722.1_RNA|SPATA8-AS1_ENST00000560888.1_RNA	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	44								p.C44C(1)		large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			CATGTCCCTGCGGCTGGAGGC	0.587																																						uc002bue.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)|skin(1)	2						c.(130-132)TGC>TGT		spermatogenesis associated 8							74.0	72.0	73.0					15																	97327425		2197	4298	6495	SO:0001819	synonymous_variant	145946							g.chr15:97327425C>T	AY489187	CCDS10376.1	15q26	2008-02-05			ENSG00000185594	ENSG00000185594			28676	protein-coding gene	gene with protein product		613948					Standard	NM_173499		Approved	MGC44294	uc002bue.3	Q6RVD6	OTTHUMG00000149847	ENST00000328504.3:c.132C>T	15.37:g.97327425C>T						uc010urp.1_5'Flank|uc002bud.1_5'Flank	p.C44C	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0718)		2	342	+	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		44					Q2KJ07	Silent	SNP	ENST00000328504.3	37	c.132C>T	CCDS10376.1																																																																																				0.587	SPATA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313533.1	NM_173499		17	96	0	0	0	0	17	96				
SOX8	30812	broad.mit.edu	37	16	1033825	1033825	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr16:1033825C>T	ENST00000293894.3	+	2	635	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	RP11-161M6.2_ENST00000565467.1_lincRNA	NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	174					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				GTACCAGCCACGGCGCAGGAA	0.677																																						uc002ckn.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(520-522)CGG>TGG		SRY (sex determining region Y)-box 8							44.0	42.0	43.0					16																	1033825		2198	4298	6496	SO:0001583	missense	30812				adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus		g.chr16:1033825C>T	AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"""SRY (sex determining region Y)-boxes"""	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.520C>T	16.37:g.1033825C>T	ENSP00000293894:p.Arg174Trp					LMF1_uc002ckk.2_5'Flank|uc002ckm.1_5'Flank	p.R174W	NM_014587	NP_055402	P57073	SOX8_HUMAN			2	635	+		Hepatocellular(780;0.00308)	174					Q9NZW2	Missense_Mutation	SNP	ENST00000293894.3	37	c.520C>T	CCDS10428.1	.	.	.	.	.	.	.	.	.	.	C	33	5.264534	0.95399	.	.	ENSG00000005513	ENST00000293894	D	0.94723	-3.5	4.77	2.64	0.31445	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (1);	0.060393	0.64402	D	0.000003	D	0.97514	0.9186	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97340	0.9956	10	0.87932	D	0	.	12.2135	0.54394	0.3208:0.6792:0.0:0.0	.	174	P57073	SOX8_HUMAN	W	174	ENSP00000293894:R174W	ENSP00000293894:R174W	R	+	1	2	SOX8	973826	0.997000	0.39634	0.007000	0.13788	0.726000	0.41606	3.705000	0.54823	0.435000	0.26365	0.655000	0.94253	CGG		0.677	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1			11	40	0	0	0	0	11	40				
ERN2	10595	broad.mit.edu	37	16	23706682	23706682	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr16:23706682C>T	ENST00000457008.2	-	14	1521	c.1483G>A	c.(1483-1485)Gtc>Atc	p.V495I	ERN2_ENST00000256797.4_Missense_Mutation_p.V595I					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AGCCGCTTGACAGCCACTGCC	0.612																																						uc002dma.3		NA																	0				large_intestine(2)|lung(2)|ovary(2)	6						c.(1783-1785)GTC>ATC		endoplasmic reticulum to nucleus signalling 2							12.0	14.0	13.0					16																	23706682		2190	4284	6474	SO:0001583	missense	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23706682C>T	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1483G>A	16.37:g.23706682C>T	ENSP00000413812:p.Val495Ile					ERN2_uc010bxp.2_Missense_Mutation_p.V543I	p.V595I	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	15	1952	-			547			Protein kinase.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000457008.2	37	c.1783G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.835511	0.97003	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.50277	0.75;0.75	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.58337	0.2115	L	0.28054	0.825	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.991;0.996	T	0.60929	-0.7165	10	0.87932	D	0	.	17.5778	0.87956	0.0:1.0:0.0:0.0	.	495;547	E7ETG2;A5YM65	.;.	I	595;495	ENSP00000256797:V595I;ENSP00000413812:V495I	ENSP00000256797:V595I	V	-	1	0	ERN2	23614183	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	2.825000	0.97269	0.655000	0.94253	GTC		0.612	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			4	15	0	0	0	0	4	15				
TOX3	27324	broad.mit.edu	37	16	52473856	52473857	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr16:52473856_52473857GG>CT	ENST00000219746.9	-	7	1295_1296	c.1011_1012CC>AG	c.(1009-1014)gcCCag>gcAGag	p.Q338E	TOX3_ENST00000407228.3_Missense_Mutation_p.Q333E	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	338					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						CGGATGGTCTGGGCTTCTGCTG	0.436																																						uc002egw.2		NA																	0					0						c.(1009-1014)GCCCAG>GCAGAG		TOX high mobility group box family member 3																																				SO:0001583	missense	27324				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	g.chr16:52473856_52473857GG>CT	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"""Trinucleotide (CAG) repeat containing"""	11972	protein-coding gene	gene with protein product		611416	"""trinucleotide repeat containing 9"""	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.1011_1012delinsCT	16.37:g.52473856_52473857delinsCT	ENSP00000219746:p.Gln338Glu					TOX3_uc010vgt.1_Missense_Mutation_p.Q333E|TOX3_uc010vgu.1_Missense_Mutation_p.Q338E	p.Q338E	NM_001080430	NP_001073899	O15405	TOX3_HUMAN			7	1182_1183	-			338					B4DRD0|B5MCW4	Missense_Mutation	DNP	ENST00000219746.9	37	c.1011_1012CC>AG	CCDS54009.1																																																																																				0.436	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		13	56	0	0	0	0	13	56				
MON1B	22879	broad.mit.edu	37	16	77229484	77229484	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr16:77229484G>T	ENST00000248248.3	+	5	1698	c.1348G>T	c.(1348-1350)Gac>Tac	p.D450Y	MON1B_ENST00000545553.1_Missense_Mutation_p.D304Y|MON1B_ENST00000439557.2_Missense_Mutation_p.D341Y|MON1B_ENST00000320859.6_Silent_p.R113R	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	450										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						GCGGCTGTCGGACCTGTACCA	0.627																																						uc002fez.2		NA																	0					0						c.(1348-1350)GAC>TAC		MON1 homolog B							66.0	53.0	57.0					16																	77229484		2198	4300	6498	SO:0001583	missense	22879						protein binding	g.chr16:77229484G>T	BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"""MON1 homolog B (yeast)"""			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.1348G>T	16.37:g.77229484G>T	ENSP00000248248:p.Asp450Tyr					MON1B_uc010vnf.1_Missense_Mutation_p.D341Y|MON1B_uc010vng.1_Missense_Mutation_p.D304Y|MON1B_uc002ffa.2_Missense_Mutation_p.D330Y	p.D450Y	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN			5	1678	+			450					B4DDZ0|O94949	Missense_Mutation	SNP	ENST00000248248.3	37	c.1348G>T	CCDS10925.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.973525	0.92919	.	.	ENSG00000103111	ENST00000248248;ENST00000439557;ENST00000545553	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.78278	0.4258	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.97110	0.999;0.972;0.972;1.0	T	0.79482	-0.1785	9	0.59425	D	0.04	.	16.6255	0.84969	0.0:0.0:1.0:0.0	.	304;341;330;450	B4DDZ0;E7EW32;Q6ZR87;Q7L1V2	.;.;.;MON1B_HUMAN	Y	450;341;304	.	ENSP00000248248:D450Y	D	+	1	0	MON1B	75786985	1.000000	0.71417	0.962000	0.40283	0.981000	0.71138	7.849000	0.86908	2.709000	0.92574	0.655000	0.94253	GAC		0.627	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	NM_014940		7	40	1	0	5.49e-09	9.62e-09	7	40				
WWOX	51741	broad.mit.edu	37	16	78198111	78198111	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr16:78198111T>G	ENST00000566780.1	+	5	807	c.441T>G	c.(439-441)caT>caG	p.H147Q	WWOX_ENST00000408984.3_Missense_Mutation_p.H147Q|WWOX_ENST00000406884.2_Missense_Mutation_p.H147Q|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000565791.1_3'UTR|WWOX_ENST00000355860.3_Missense_Mutation_p.H147Q	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	147	Interaction with MAPT. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TTGCCCTCCATGGTGCACATG	0.443																																						uc002ffk.2		NA																	0					0						c.(439-441)CAT>CAG		WW domain-containing oxidoreductase isoform 1							126.0	125.0	126.0					16																	78198111		1963	4146	6109	SO:0001583	missense	51741				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity	g.chr16:78198111T>G	AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.441T>G	16.37:g.78198111T>G	ENSP00000457230:p.His147Gln					WWOX_uc010vnk.1_Missense_Mutation_p.H34Q|WWOX_uc002ffl.2_Missense_Mutation_p.H147Q|WWOX_uc010che.2_Intron|WWOX_uc002ffj.1_Missense_Mutation_p.H147Q	p.H147Q	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)	5	566	+		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)	147			Interaction with MAPT (By similarity).		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	ENST00000566780.1	37	c.441T>G	CCDS42196.1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.418403	0.42918	.	.	ENSG00000186153	ENST00000408984;ENST00000355860;ENST00000406884	T;D;D	0.86627	2.06;-2.15;-2.15	5.58	0.76	0.18442	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.77745	0.4176	N	0.21324	0.655	0.44500	D	0.997445	B;P;B	0.38420	0.408;0.63;0.14	B;B;B	0.42625	0.094;0.393;0.111	T	0.70107	-0.4963	10	0.87932	D	0	.	4.8631	0.13594	0.1274:0.2181:0.0:0.6545	.	147;147;147	Q9NZC7-5;Q9NZC7;Q9NZC7-3	.;WWOX_HUMAN;.	Q	147	ENSP00000386161:H147Q;ENSP00000348119:H147Q;ENSP00000384495:H147Q	ENSP00000348119:H147Q	H	+	3	2	WWOX	76755612	0.970000	0.33590	0.997000	0.53966	0.987000	0.75469	-0.098000	0.11024	-0.141000	0.11374	-0.256000	0.11100	CAT		0.443	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1			15	34	0	0	0	0	15	34				
MC1R	4157	broad.mit.edu	37	16	89986186	89986186	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr16:89986186G>A	ENST00000555147.1	+	1	1900	c.520G>A	c.(520-522)Gtc>Atc	p.V174I	RP11-566K11.7_ENST00000570217.1_RNA|TUBB3_ENST00000554444.1_5'Flank|MC1R_ENST00000555427.1_Missense_Mutation_p.V174I|TUBB3_ENST00000556922.1_Missense_Mutation_p.V174I|RP11-566K11.4_ENST00000554623.1_RNA	NM_002386.3	NP_002377.4	Q01726	MSHR_HUMAN	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	174					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intracellular signal transduction (GO:0035556)|melanin biosynthetic process (GO:0042438)|multicellular organismal development (GO:0007275)|negative regulation of tumor necrosis factor production (GO:0032720)|pigmentation (GO:0043473)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sensory perception of pain (GO:0019233)|UV protection (GO:0009650)|UV-damage excision repair (GO:0070914)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GGCCAGTGTCGTCTTCAGCAC	0.632									Melanoma, Familial Clustering of																													uc002fpf.2		NA																	0				ovary(2)|pancreas(1)	3	GRCh37	CD041917	MC1R	D		c.(520-522)GTC>ATC		tubulin, beta, 4							55.0	59.0	57.0					16																	89986186		2189	4292	6481	SO:0001583	missense	10381		Familial Cancer Database		'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr16:89986186G>A		CCDS56011.1	16q24.3	2012-10-05			ENSG00000258839	ENSG00000258839		"""GPCR / Class A : Melanocortin receptors"""	6929	protein-coding gene	gene with protein product		155555				8458079	Standard	NM_002386		Approved	MSH-R		Q01726		ENST00000555147.1:c.520G>A	16.37:g.89986186G>A	ENSP00000451605:p.Val174Ile					MC1R_uc002fpe.3_Missense_Mutation_p.V174I|TUBB3_uc010ciz.1_5'Flank	p.V174I	NM_006086	NP_006077	Q13509	TBB3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	1	928	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)	Error:Variant_position_missing_in_Q13509_after_alignment					Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	Missense_Mutation	SNP	ENST00000555147.1	37	c.520G>A	CCDS56011.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920013	0.52653	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258839	ENST00000555427;ENST00000556922;ENST00000555147	T;T;T	0.37584	1.19;1.19;1.19	4.68	-3.59	0.04583	GPCR, rhodopsin-like superfamily (1);	0.519015	0.14248	U	0.331623	T	0.19046	0.0457	N	0.21240	0.645	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.22103	-1.0226	9	.	.	.	.	8.8779	0.35356	0.0877:0.1658:0.6098:0.1367	.	174	Q01726	MSHR_HUMAN	I	174	ENSP00000451760:V174I;ENSP00000451560:V174I;ENSP00000451605:V174I	.	V	+	1	0	MC1R;RP11-566K11.2	88513687	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.385000	0.07379	-1.033000	0.03299	-0.676000	0.03789	GTC		0.632	MC1R-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412014.1	NM_002386		12	58	0	0	0	0	12	58				
CYB5D2	124936	broad.mit.edu	37	17	4053285	4053285	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr17:4053285C>T	ENST00000301391.3	+	2	851	c.351C>T	c.(349-351)caC>caT	p.H117H	CYB5D2_ENST00000575411.2_3'UTR|CYB5D2_ENST00000575251.1_Silent_p.H5H|CYB5D2_ENST00000573984.1_Silent_p.H5H	NM_144611.3	NP_653212.1	Q8WUJ1	NEUFC_HUMAN	cytochrome b5 domain containing 2	117	Cytochrome b5 heme-binding.				nervous system development (GO:0007399)	extracellular region (GO:0005576)	heme binding (GO:0020037)			breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						TGACACTTCACAATTGGCTTT	0.493																																						uc002fxm.3		NA																	0				large_intestine(2)|ovary(1)	3						c.(349-351)CAC>CAT		cytochrome b5 domain containing 2							149.0	125.0	133.0					17																	4053285		2203	4300	6503	SO:0001819	synonymous_variant	124936				nervous system development	extracellular region	heme binding	g.chr17:4053285C>T	AK172844	CCDS11044.1, CCDS58501.1	17p13.2	2006-03-10							28471	protein-coding gene	gene with protein product							Standard	NM_144611		Approved	MGC32124	uc002fxm.4	Q8WUJ1		ENST00000301391.3:c.351C>T	17.37:g.4053285C>T						CYB5D2_uc010cko.2_Silent_p.H5H|CYB5D2_uc002fxl.3_Silent_p.H5H	p.H117H	NM_144611	NP_653212	Q8WUJ1	NEUFC_HUMAN			2	939	+			117			Cytochrome b5 heme-binding.		B2R7R6|D3DTJ9|I3L1K2	Silent	SNP	ENST00000301391.3	37	c.351C>T	CCDS11044.1																																																																																				0.493	CYB5D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438698.1	NM_144611		32	36	0	0	0	0	32	36				
NLGN2	57555	broad.mit.edu	37	17	7318427	7318427	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr17:7318427C>G	ENST00000302926.2	+	5	1070	c.997C>G	c.(997-999)Ccc>Gcc	p.P333A	NLGN2_ENST00000575301.1_Missense_Mutation_p.P333A	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	333					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GCGCCGGAAGCCCTCCCGGGA	0.652																																						uc002ggt.1		NA																	0				central_nervous_system(1)	1						c.(997-999)CCC>GCC		neuroligin 2 precursor							38.0	39.0	39.0					17																	7318427		2203	4300	6503	SO:0001583	missense	57555				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity	g.chr17:7318427C>G	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.997C>G	17.37:g.7318427C>G	ENSP00000305288:p.Pro333Ala						p.P333A	NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN			5	1070	+		Prostate(122;0.157)	333			Extracellular (Potential).		Q9P2I1	Missense_Mutation	SNP	ENST00000302926.2	37	c.997C>G	CCDS11103.1	.	.	.	.	.	.	.	.	.	.	C	9.420	1.082675	0.20309	.	.	ENSG00000169992	ENST00000302926	T	0.61510	0.1	5.17	3.17	0.36434	Carboxylesterase, type B (1);	0.283891	0.33670	N	0.004664	T	0.59891	0.2227	M	0.62723	1.935	0.31302	N	0.688203	B	0.27951	0.195	B	0.41723	0.365	T	0.64313	-0.6437	10	0.49607	T	0.09	.	8.8126	0.34976	0.0:0.8151:0.0:0.1849	.	333	Q8NFZ4	NLGN2_HUMAN	A	333	ENSP00000305288:P333A	ENSP00000305288:P333A	P	+	1	0	NLGN2	7259151	0.102000	0.21896	0.998000	0.56505	0.995000	0.86356	0.609000	0.24238	0.752000	0.32923	0.561000	0.74099	CCC		0.652	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	NM_020795		26	36	0	0	0	0	26	36				
SMCR8	140775	broad.mit.edu	37	17	18219330	18219330	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr17:18219330C>A	ENST00000406438.3	+	1	707	c.227C>A	c.(226-228)cCc>cAc	p.P76H	TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000582230.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	76						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CTGACCATCCCCAATGACACC	0.502																																						uc002gsy.3		NA																	0				central_nervous_system(1)	1						c.(226-228)CCC>CAC		Smith-Magenis syndrome chromosome region,							186.0	169.0	175.0					17																	18219330		2203	4300	6503	SO:0001583	missense	140775							g.chr17:18219330C>A	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.227C>A	17.37:g.18219330C>A	ENSP00000385025:p.Pro76His						p.P76H	NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN			1	737	+			76					A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	c.227C>A	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069273	0.76301	.	.	ENSG00000176994	ENST00000406438	T	0.51817	0.69	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.61949	0.2388	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63400	-0.6646	10	0.87932	D	0	-3.5643	20.073	0.97731	0.0:1.0:0.0:0.0	.	76	Q8TEV9	SMCR8_HUMAN	H	76	ENSP00000385025:P76H	ENSP00000385025:P76H	P	+	2	0	SMCR8	18160055	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.379000	0.79691	2.750000	0.94351	0.655000	0.94253	CCC		0.502	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		6	166	1	0	8.13e-05	0.000139028	6	166				
PRPSAP2	5636	broad.mit.edu	37	17	18781170	18781170	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr17:18781170G>C	ENST00000268835.2	+	6	682	c.399G>C	c.(397-399)atG>atC	p.M133I	PRPSAP2_ENST00000542013.1_Missense_Mutation_p.M133I|PRPSAP2_ENST00000536323.1_Missense_Mutation_p.M47I|PRPSAP2_ENST00000419071.2_Missense_Mutation_p.M93I	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	133					bone development (GO:0060348)|negative regulation of catalytic activity (GO:0043086)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						TGGCTTCCATGATGTGCAAAG	0.428																																						uc002gup.1		NA																	0				skin(1)	1						c.(397-399)ATG>ATC		phosphoribosyl pyrophosphate							118.0	111.0	114.0					17																	18781170		2203	4300	6503	SO:0001583	missense	5636				nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity	g.chr17:18781170G>C	AB007851	CCDS11200.1, CCDS58525.1, CCDS58526.1, CCDS58527.1	17p12-p11.2	2008-05-14			ENSG00000141127	ENSG00000141127			9467	protein-coding gene	gene with protein product		603762				9806849	Standard	NM_002767		Approved	PAP41	uc002gup.2	O60256	OTTHUMG00000059406	ENST00000268835.2:c.399G>C	17.37:g.18781170G>C	ENSP00000268835:p.Met133Ile					PRPSAP2_uc002guo.1_Missense_Mutation_p.M47I|PRPSAP2_uc010vyi.1_Missense_Mutation_p.M81I|PRPSAP2_uc010vyj.1_Missense_Mutation_p.M47I|PRPSAP2_uc010vyk.1_Missense_Mutation_p.M121I	p.M133I	NM_002767	NP_002758	O60256	KPRB_HUMAN			6	610	+			133					B4E1M8|B4E329|B7ZKZ1|E7EMY2|Q6IAS2	Missense_Mutation	SNP	ENST00000268835.2	37	c.399G>C	CCDS11200.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878218	0.91664	.	.	ENSG00000141127	ENST00000441887;ENST00000395656;ENST00000414602;ENST00000419071;ENST00000432893;ENST00000455992;ENST00000412418;ENST00000419284;ENST00000268835;ENST00000536323;ENST00000422237;ENST00000542013	D;D;D;D;D;D;D;D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99;-2.99;-2.99;-2.99;-2.99;-2.99;-2.99;-2.99	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.95092	0.8410	M	0.71920	2.185	0.80722	D	1	D;P;P	0.56287	0.975;0.873;0.925	P;P;P	0.60541	0.876;0.685;0.85	D	0.95396	0.8486	10	0.59425	D	0.04	-13.069	18.028	0.89274	0.0:0.0:1.0:0.0	.	133;93;133	B7ZKZ1;E7EMY2;O60256	.;.;KPRB_HUMAN	I	133;133;133;93;133;133;133;133;133;47;133;133	ENSP00000395127:M133I;ENSP00000416964:M133I;ENSP00000392536:M93I;ENSP00000399625:M133I;ENSP00000416021:M133I;ENSP00000402612:M133I;ENSP00000415446:M133I;ENSP00000268835:M133I;ENSP00000443967:M47I;ENSP00000401144:M133I;ENSP00000439129:M133I	ENSP00000268835:M133I	M	+	3	0	PRPSAP2	18721895	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.338000	0.79540	0.467000	0.42956	ATG		0.428	PRPSAP2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132112.3	NM_002767		21	64	0	0	0	0	21	64				
SRCIN1	80725	broad.mit.edu	37	17	36734745	36734745	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr17:36734745G>C	ENST00000264659.7	-	2	546	c.322C>G	c.(322-324)Cag>Gag	p.Q108E	SRCIN1_ENST00000578925.1_Missense_Mutation_p.Q108E	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	0					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CCACTCACCTGCTCTCGCATC	0.701																																						uc002hqd.2		NA																	0					0						c.(322-324)CAG>GAG		SNAP25-interacting protein							23.0	25.0	25.0					17																	36734745		2001	4163	6164	SO:0001583	missense	80725				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	g.chr17:36734745G>C		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.322C>G	17.37:g.36734745G>C	ENSP00000264659:p.Gln108Glu					SRCIN1_uc002hqh.1_Missense_Mutation_p.Q142E	p.Q108E	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN			2	547	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	c.322C>G	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598153	0.66332	.	.	ENSG00000017373	ENST00000264659	T	0.63255	-0.03	4.94	4.94	0.65067	.	0.062988	0.64402	D	0.000005	T	0.53932	0.1827	.	.	.	0.35092	D	0.764387	B	0.31817	0.341	B	0.30495	0.116	T	0.64546	-0.6382	9	0.38643	T	0.18	-7.0209	15.6598	0.77178	0.0:0.0:1.0:0.0	.	108	Q9C0H9-5	.	E	108	ENSP00000264659:Q108E	ENSP00000264659:Q108E	Q	-	1	0	SRCIN1	33988271	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.639000	0.67868	2.277000	0.76020	0.561000	0.74099	CAG		0.701	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248		6	21	0	0	0	0	6	21				
TNFSF9	8744	broad.mit.edu	37	19	6532808	6532808	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:6532808G>A	ENST00000245817.3	+	2	317	c.279G>A	c.(277-279)gcG>gcA	p.A93A		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	93					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						GCATGTTTGCGCAGCTGGTGG	0.577																																						uc002mfh.2		NA																	0				central_nervous_system(1)	1						c.(277-279)GCG>GCA		tumor necrosis factor (ligand) superfamily,							143.0	131.0	135.0					19																	6532808		2203	4300	6503	SO:0001819	synonymous_variant	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6532808G>A	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"""Tumor necrosis factor (ligand) superfamily"""	11939	protein-coding gene	gene with protein product	"""receptor 4-1BB ligand"", ""homolog of mouse 4-1BB-L"""	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.279G>A	19.37:g.6532808G>A							p.A93A	NM_003811	NP_003802	P41273	TNFL9_HUMAN			2	317	+			93			Extracellular (Potential).		Q2M3S2	Silent	SNP	ENST00000245817.3	37	c.279G>A	CCDS12169.1																																																																																				0.577	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		56	71	0	0	0	0	56	71				
AP1M1	8907	broad.mit.edu	37	19	16319879	16319879	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:16319879C>T	ENST00000291439.3	+	5	886	c.437C>T	c.(436-438)gCc>gTc	p.A146V	AP1M1_ENST00000429941.2_Missense_Mutation_p.A146V|AP1M1_ENST00000590756.1_Missense_Mutation_p.A74V|AP1M1_ENST00000541844.1_Missense_Mutation_p.A74V|AP1M1_ENST00000444449.2_Missense_Mutation_p.A146V	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	146					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						GAAACAGGGGCCCCGCGGCCA	0.612																																						uc002ndu.2		NA																	0				ovary(3)|breast(1)	4						c.(436-438)GCC>GTC		adaptor-related protein complex 1, mu 1 subunit							90.0	85.0	87.0					19																	16319879		2203	4300	6503	SO:0001583	missense	8907				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	g.chr19:16319879C>T		CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.437C>T	19.37:g.16319879C>T	ENSP00000291439:p.Ala146Val					AP1M1_uc002ndv.2_Missense_Mutation_p.A146V|AP1M1_uc010xpd.1_Missense_Mutation_p.A146V	p.A146V	NM_032493	NP_115882	Q9BXS5	AP1M1_HUMAN			5	610	+			146					Q4TTY5	Missense_Mutation	SNP	ENST00000291439.3	37	c.437C>T	CCDS12342.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.033729	0.54896	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000541844;ENST00000429941	T;T;T;T	0.65364	0.43;0.43;0.45;-0.15	4.35	3.32	0.38043	.	0.000000	0.85682	D	0.000000	T	0.48677	0.1513	L	0.31752	0.955	0.58432	D	0.999999	B;B;B	0.12630	0.002;0.0;0.006	B;B;B	0.13407	0.004;0.003;0.009	T	0.46470	-0.9189	10	0.52906	T	0.07	-36.2156	11.2575	0.49063	0.0:0.9114:0.0:0.0886	.	146;146;146	E7ENJ6;Q4TTY5;Q9BXS5	.;.;AP1M1_HUMAN	V	146;146;74;146	ENSP00000388996:A146V;ENSP00000291439:A146V;ENSP00000445682:A74V;ENSP00000411498:A146V	ENSP00000291439:A146V	A	+	2	0	AP1M1	16180879	0.996000	0.38824	0.988000	0.46212	0.945000	0.59286	3.618000	0.54188	1.042000	0.40150	0.563000	0.77884	GCC		0.612	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493		27	49	0	0	0	0	27	49				
NCAN	1463	broad.mit.edu	37	19	19330033	19330033	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:19330033G>A	ENST00000252575.6	+	3	482	c.383G>A	c.(382-384)gGg>gAg	p.G128E		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	128	Ig-like V-type.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CTACTTCTGGGGCCACTGAGG	0.642																																						uc002nlz.2		NA																	0				ovary(4)	4						c.(382-384)GGG>GAG		chondroitin sulfate proteoglycan 3 precursor							34.0	29.0	31.0					19																	19330033		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19330033G>A	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.383G>A	19.37:g.19330033G>A	ENSP00000252575:p.Gly128Glu						p.G128E	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		3	482	+			128			Ig-like V-type.		Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.383G>A	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039514	0.35989	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	T	0.63744	-0.06	4.59	3.54	0.40534	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.186771	0.26394	N	0.024628	T	0.53238	0.1784	N	0.14661	0.345	0.80722	D	1	D	0.69078	0.997	D	0.68039	0.955	T	0.56038	-0.8045	10	0.02654	T	1	.	7.8214	0.29290	0.0:0.1789:0.6364:0.1848	.	128	O14594	NCAN_HUMAN	E	142;128	ENSP00000252575:G128E	ENSP00000252575:G128E	G	+	2	0	NCAN	19191033	0.094000	0.21725	0.859000	0.33776	0.043000	0.13939	1.520000	0.35899	0.901000	0.36495	0.491000	0.48974	GGG		0.642	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		9	12	0	0	0	0	9	12				
ZNF100	163227	broad.mit.edu	37	19	21910770	21910770	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:21910770T>A	ENST00000358296.6	-	5	542	c.344A>T	c.(343-345)cAa>cTa	p.Q115L	ZNF100_ENST00000305570.6_Missense_Mutation_p.Q51L	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	115					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						CCAAAGGTCTTGGGGAAAATG	0.303																																						uc002nqi.2		NA																	0					0						c.(343-345)CAA>CTA		zinc finger protein 100							31.0	29.0	30.0					19																	21910770		1868	4126	5994	SO:0001583	missense	163227				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21910770T>A	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.344A>T	19.37:g.21910770T>A	ENSP00000351042:p.Gln115Leu					ZNF100_uc002nqh.2_Missense_Mutation_p.Q51L	p.Q115L	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN			5	543	-			115					Q7M4M0	Missense_Mutation	SNP	ENST00000358296.6	37	c.344A>T	CCDS42538.1	.	.	.	.	.	.	.	.	.	.	.	7.619	0.676328	0.14841	.	.	ENSG00000197020	ENST00000358296	T	0.05081	3.5	0.131	0.131	0.14755	.	.	.	.	.	T	0.08179	0.0204	L	0.45470	1.425	0.21416	N	0.999697	B;P	0.43314	0.046;0.803	B;P	0.46452	0.046;0.517	T	0.27054	-1.0085	9	0.56958	D	0.05	.	4.383	0.11304	0.0:1.0E-4:0.0:0.9999	.	115;169	Q8IYN0;Q4G131	ZN100_HUMAN;.	L	115	ENSP00000351042:Q115L	ENSP00000351042:Q115L	Q	-	2	0	ZNF100	21702610	.	.	0.125000	0.21846	0.124000	0.20399	.	.	0.148000	0.19059	0.147000	0.16070	CAA		0.303	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		7	29	0	0	0	0	7	29				
FCGBP	8857	broad.mit.edu	37	19	40367841	40367841	+	Silent	SNP	T	T	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:40367841T>G	ENST00000221347.6	-	29	13126	c.13119A>C	c.(13117-13119)gcA>gcC	p.A4373A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4373	TIL 10.					extracellular vesicular exosome (GO:0070062)		p.A4373A(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGTAAGGGGTGCAGGGGACG	0.627																																						uc002omp.3		NA																	2	Substitution - coding silent(2)		lung(1)|kidney(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(13117-13119)GCA>GCC		Fc fragment of IgG binding protein precursor							17.0	32.0	27.0					19																	40367841		2132	4018	6150	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40367841T>G	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13119A>C	19.37:g.40367841T>G							p.A4373A	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		29	13127	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4373			TIL 10.		O95784	Silent	SNP	ENST00000221347.6	37	c.13119A>C	CCDS12546.1																																																																																				0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		5	9	0	0	0	0	5	9				
PRKCG	5582	broad.mit.edu	37	19	54401269	54401269	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:54401269C>T	ENST00000263431.3	+	10	1278	c.996C>T	c.(994-996)acC>acT	p.T332T	PRKCG_ENST00000542049.1_Silent_p.T219T|PRKCG_ENST00000536044.1_Missense_Mutation_p.P303L|PRKCG_ENST00000540413.1_Silent_p.T332T	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	332					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	cTAGTCCCACCGACCCCAAGC	0.587																																						uc002qcq.1		NA																	0				lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9						c.(994-996)ACC>ACT		protein kinase C, gamma							64.0	64.0	64.0					19																	54401269		2203	4300	6503	SO:0001819	synonymous_variant	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54401269C>T	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.996C>T	19.37:g.54401269C>T						PRKCG_uc010yef.1_Missense_Mutation_p.P303L|PRKCG_uc010yeg.1_Silent_p.T332T|PRKCG_uc010yeh.1_Silent_p.T219T	p.T332T	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	10	1278	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		332					B7Z8Q0	Silent	SNP	ENST00000263431.3	37	c.996C>T	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.432931	0.43224	.	.	ENSG00000126583	ENST00000536044	T	0.76839	-1.05	5.14	-10.3	0.00346	.	.	.	.	.	T	0.56031	0.1958	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12041	-1.0563	8	0.28530	T	0.3	.	5.1358	0.14934	0.1397:0.1853:0.4709:0.2041	.	303	B7Z870	.	L	303	ENSP00000440541:P303L	ENSP00000440541:P303L	P	+	2	0	PRKCG	59093081	0.000000	0.05858	0.166000	0.22797	0.991000	0.79684	-4.782000	0.00186	-3.084000	0.00250	0.484000	0.47621	CCG		0.587	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		11	81	0	0	0	0	11	81				
NLRP2	55655	broad.mit.edu	37	19	55495011	55495011	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:55495011A>G	ENST00000543010.1	+	6	2088	c.1945A>G	c.(1945-1947)Aac>Gac	p.N649D	NLRP2_ENST00000339757.7_Missense_Mutation_p.N627D|NLRP2_ENST00000427260.2_Missense_Mutation_p.N626D|NLRP2_ENST00000448584.2_Missense_Mutation_p.N649D|NLRP2_ENST00000537859.1_Missense_Mutation_p.N627D|NLRP2_ENST00000538819.1_Missense_Mutation_p.N625D|NLRP2_ENST00000263437.6_Missense_Mutation_p.N646D|NLRP2_ENST00000391721.4_Missense_Mutation_p.N625D	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	649					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCACTGTCGAAACCTGCAGAA	0.483																																						uc002qij.2		NA																	0				ovary(1)|skin(1)	2						c.(1945-1947)AAC>GAC		NLR family, pyrin domain containing 2							72.0	61.0	65.0					19																	55495011		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55495011A>G	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1945A>G	19.37:g.55495011A>G	ENSP00000445135:p.Asn649Asp					NLRP2_uc010yfp.1_Missense_Mutation_p.N626D|NLRP2_uc010esn.2_Missense_Mutation_p.N625D|NLRP2_uc010eso.2_Missense_Mutation_p.N646D|NLRP2_uc010esp.2_Missense_Mutation_p.N627D	p.N649D	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	2031	+			649					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.1945A>G	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	A	0.102	-1.150389	0.01700	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53	1.94	-0.274	0.12910	.	.	.	.	.	T	0.29491	0.0735	N	0.21097	0.63	0.09310	N	1	B;B;B;B;B	0.23490	0.011;0.086;0.051;0.086;0.013	B;B;B;B;B	0.27887	0.013;0.084;0.039;0.084;0.021	T	0.24835	-1.0149	9	0.09338	T	0.73	.	2.5402	0.04723	0.5341:0.2885:0.1773:0.0	.	626;627;646;625;649	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	D	649;625;627;649;627;626;625;646	ENSP00000445135:N649D;ENSP00000375601:N625D;ENSP00000344074:N627D;ENSP00000409370:N649D;ENSP00000440601:N627D;ENSP00000402474:N626D;ENSP00000441133:N625D;ENSP00000263437:N646D	ENSP00000263437:N646D	N	+	1	0	NLRP2	60186823	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.054000	0.14205	-0.144000	0.11314	-0.488000	0.04728	AAC		0.483	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		10	46	0	0	0	0	10	46				
FIZ1	84922	broad.mit.edu	37	19	56104200	56104200	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:56104200C>T	ENST00000221665.3	-	3	1196	c.1107G>A	c.(1105-1107)gcG>gcA	p.A369A		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	369					positive regulation of protein phosphorylation (GO:0001934)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		AGGCGGCCAGCGCCGCGTACA	0.766																																						uc002qli.3		NA																	0					0						c.(1105-1107)GCG>GCA		FLT3-interacting zinc finger 1							4.0	5.0	5.0					19																	56104200		1058	2491	3549	SO:0001819	synonymous_variant	84922				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding	g.chr19:56104200C>T	AK027674	CCDS12928.1	19q13.42	2013-01-08				ENSG00000179943		"""Zinc fingers, C2H2-type"""	25917	protein-coding gene	gene with protein product		609133				12566383	Standard	NM_032836		Approved	FLJ14768, ZNF798	uc002qli.4	Q96SL8		ENST00000221665.3:c.1107G>A	19.37:g.56104200C>T						FIZ1_uc002qlj.3_Silent_p.A369A	p.A369A	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	3	1197	-			369			C2H2-type 8.		A2RU72|Q6ZMJ7	Silent	SNP	ENST00000221665.3	37	c.1107G>A	CCDS12928.1																																																																																				0.766	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453350.1	NM_032836		4	7	0	0	0	0	4	7				
ZNF304	57343	broad.mit.edu	37	19	57868268	57868268	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr19:57868268A>G	ENST00000282286.5	+	3	1204	c.1031A>G	c.(1030-1032)tAc>tGc	p.Y344C	ZNF304_ENST00000443917.2_Missense_Mutation_p.Y391C|ZNF304_ENST00000391705.3_Missense_Mutation_p.Y344C|ZNF304_ENST00000598744.1_Missense_Mutation_p.Y302C			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	344					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(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GGAAAAGCCTACAGCAGAAGC	0.473																																						uc010ygw.1		NA																	0				ovary(1)	1						c.(1030-1032)TAC>TGC		zinc finger protein 304							64.0	61.0	62.0					19																	57868268		2203	4300	6503	SO:0001583	missense	57343				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57868268A>G	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.1031A>G	19.37:g.57868268A>G	ENSP00000282286:p.Tyr344Cys					ZNF304_uc010etw.2_Missense_Mutation_p.Y391C|ZNF304_uc010etx.2_Missense_Mutation_p.Y302C	p.Y344C	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	1419	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	344			C2H2-type 6.			Missense_Mutation	SNP	ENST00000282286.5	37	c.1031A>G	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.361850	0.41801	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.17691	2.26;2.26;2.26	3.57	-1.78	0.07957	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25494	0.0620	L	0.39085	1.19	0.23743	N	0.996966	D;D	0.76494	0.992;0.999	P;P	0.61328	0.707;0.887	T	0.25187	-1.0139	9	0.87932	D	0	.	11.6197	0.51111	0.2226:0.0:0.0:0.7774	.	344;391	Q9HCX3;E7EQD3	ZN304_HUMAN;.	C	344;344;391	ENSP00000282286:Y344C;ENSP00000375586:Y344C;ENSP00000401642:Y391C	ENSP00000282286:Y344C	Y	+	2	0	ZNF304	62560080	0.595000	0.26857	0.348000	0.25681	0.988000	0.76386	1.077000	0.30741	-0.466000	0.06943	0.477000	0.44152	TAC		0.473	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			16	37	0	0	0	0	16	37				
CAD	790	broad.mit.edu	37	2	27457394	27457394	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:27457394G>A	ENST00000403525.1	+	22	3582	c.3438G>A	c.(3436-3438)caG>caA	p.Q1146Q	CAD_ENST00000264705.4_Silent_p.Q1209Q			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGATGACCAGCTGAAAGTTA	0.547																																						uc002rji.2		NA																	0				ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10						c.(3625-3627)CAG>CAA		carbamoylphosphate synthetase 2/aspartate	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						214.0	184.0	194.0					2																	27457394		2203	4300	6503	SO:0001819	synonymous_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27457394G>A	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3438G>A	2.37:g.27457394G>A						CAD_uc010eyw.2_Silent_p.Q1146Q	p.Q1209Q	NM_004341	NP_004332	P27708	PYR1_HUMAN			23	3789	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1209			CPSase B.|ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37	c.3627G>A																																																																																					0.547	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			35	158	0	0	0	0	35	158				
SPRED2	200734	broad.mit.edu	37	2	65541019	65541019	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:65541019C>T	ENST00000356388.4	-	6	1062	c.873G>A	c.(871-873)caG>caA	p.Q291Q	SPRED2_ENST00000443619.2_Silent_p.Q288Q|SPRED2_ENST00000474228.1_5'Flank	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	291					inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CCCGGGAGGGCTGCGTCTTGA	0.662																																						uc002sdr.3		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(871-873)CAG>CAA		sprouty-related protein with EVH-1 domain 2							44.0	48.0	47.0					2																	65541019		2202	4299	6501	SO:0001819	synonymous_variant	200734				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	g.chr2:65541019C>T	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.873G>A	2.37:g.65541019C>T						SPRED2_uc010fcw.2_Silent_p.Q288Q	p.Q291Q	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN			6	1408	-			291					A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Silent	SNP	ENST00000356388.4	37	c.873G>A	CCDS33211.1																																																																																				0.662	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			21	96	0	0	0	0	21	96				
DQX1	165545	broad.mit.edu	37	2	74755571	74755571	+	5'Flank	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:74755571C>A	ENST00000404568.3	-	0	0				HTRA2_ENST00000352222.3_5'Flank|AUP1_ENST00000377526.3_Silent_p.L190L|DQX1_ENST00000393951.2_5'Flank|HTRA2_ENST00000258080.3_5'Flank	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1							nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						TCTGAACTTGCAGGGTAAGAG	0.527																																						uc010yrx.1		NA																	0					0						c.(739-741)CTG>CTT		SubName: Full=cDNA FLJ57204, highly similar to Homo sapiens ancient ubiquitous protein 1 (AUP1), transcript variant 2, mRNA;							66.0	67.0	67.0					2																	74755571		1900	4109	6009	SO:0001631	upstream_gene_variant	550					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding	g.chr2:74755571C>A	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965		2.37:g.74755571C>A	Exception_encountered					DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_Silent_p.L190L|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_Silent_p.L99L|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank|HTRA2_uc010ffl.2_5'Flank	p.L247L			Q9Y679	AUP1_HUMAN			4	867	-			256			Cytoplasmic (Potential).		Q6B017|Q8NAM8	Silent	SNP	ENST00000404568.3	37	c.741G>T	CCDS1949.2																																																																																				0.527	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		17	44	1	0	9.77e-05	0.000166535	17	44				
ADRA2B	151	broad.mit.edu	37	2	96780623	96780623	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:96780623G>C	ENST00000409345.3	-	1	1361	c.1266C>G	c.(1264-1266)atC>atG	p.I422M		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	422					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGATGGTGTAGATAACAGGGT	0.627																																						uc002svi.2		NA																	0				ovary(2)|lung(1)	3						c.(1273-1275)ATC>ATG		alpha-2B-adrenergic receptor	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						45.0	53.0	50.0					2																	96780623		2171	4278	6449	SO:0001583	missense	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96780623G>C	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.1266C>G	2.37:g.96780623G>C	ENSP00000387281:p.Ile422Met						p.I425M	NM_000682	NP_000673	P18089	ADA2B_HUMAN			3	1275	-			425			Helical; Name=7; (By similarity).		Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	37	c.1275C>G	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117697	0.56505	.	.	ENSG00000222040	ENST00000409345	T	0.57273	0.41	5.75	4.88	0.63580	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.80752	0.4683	H	0.98276	4.19	0.48236	D	0.999613	D	0.89917	1.0	D	0.97110	1.0	D	0.84001	0.0343	9	0.87932	D	0	.	7.6016	0.28079	0.0828:0.0:0.7542:0.1631	.	425	P18089	ADA2B_HUMAN	M	422	ENSP00000387281:I422M	ENSP00000387281:I422M	I	-	3	3	ADRA2B	96144350	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.928000	0.28831	1.453000	0.47775	0.650000	0.86243	ATC		0.627	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			5	30	0	0	0	0	5	30				
FOXD4L1	200350	broad.mit.edu	37	2	114257536	114257536	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:114257536C>G	ENST00000306507.5	+	1	876	c.703C>G	c.(703-705)Ctg>Gtg	p.L235V		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	235	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						CCCAGGCCCTCTGCTTGGGGC	0.726																																						uc002tjw.3		NA																	0					0						c.(703-705)CTG>GTG		forkhead box D4-like 1							18.0	31.0	27.0					2																	114257536		1327	2566	3893	SO:0001583	missense	200350				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:114257536C>G	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.703C>G	2.37:g.114257536C>G	ENSP00000302756:p.Leu235Val						p.L235V	NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN			1	876	+			235			Pro-rich.		B3KWN1|B9EGF3	Missense_Mutation	SNP	ENST00000306507.5	37	c.703C>G	CCDS2117.1	.	.	.	.	.	.	.	.	.	.	.	13.47	2.245545	0.39697	.	.	ENSG00000184492	ENST00000306507	D	0.94613	-3.47	2.57	-0.718	0.11205	.	.	.	.	.	D	0.92348	0.7572	L	0.34521	1.04	0.09310	N	1	P	0.52842	0.956	P	0.62184	0.899	D	0.83484	0.0066	9	0.25106	T	0.35	.	3.2307	0.06747	0.0:0.488:0.2226:0.2895	.	235	Q9NU39	FX4L1_HUMAN	V	235	ENSP00000302756:L235V	ENSP00000302756:L235V	L	+	1	2	FOXD4L1	113974006	0.000000	0.05858	0.001000	0.08648	0.198000	0.23893	-0.786000	0.04623	-0.336000	0.08438	-1.206000	0.01644	CTG		0.726	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		28	113	0	0	0	0	28	113				
TTN	7273	broad.mit.edu	37	2	179427268	179427268	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:179427268G>T	ENST00000591111.1	-	276	78892	c.78668C>A	c.(78667-78669)cCc>cAc	p.P26223H	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P18991H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P18924H|TTN_ENST00000460472.2_Missense_Mutation_p.P18799H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P27864H|TTN_ENST00000342992.6_Missense_Mutation_p.P25296H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26223					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGTGGGAGGGGTGGTTCAGA	0.448																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(75886-75888)CCC>CAC		titin isoform N2-A							79.0	76.0	77.0					2																	179427268		1864	4101	5965	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179427268G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.78668C>A	2.37:g.179427268G>T	ENSP00000465570:p.Pro26223His					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P18991H|TTN_uc010zfi.1_Missense_Mutation_p.P18924H|TTN_uc010zfj.1_Missense_Mutation_p.P18799H	p.P25296H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	76111	-			26223					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.75887C>A		.	.	.	.	.	.	.	.	.	.	G	13.75	2.330376	0.41297	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.67	5.67	0.87782	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.89649	0.6776	H	0.99726	4.73	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.999	D	0.94069	0.7333	9	0.87932	D	0	.	19.7469	0.96255	0.0:0.0:1.0:0.0	.	18799;18924;18991;26223	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	25296;18799;18991;18924;18797	ENSP00000343764:P25296H;ENSP00000434586:P18799H;ENSP00000340554:P18991H;ENSP00000352154:P18924H	ENSP00000340554:P18991H	P	-	2	0	TTN	179135514	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.807000	0.99171	2.673000	0.90976	0.561000	0.74099	CCC		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	55	1	0	3.07e-06	5.32e-06	12	55				
TTN	7273	broad.mit.edu	37	2	179638736	179638736	+	Missense_Mutation	SNP	C	C	T	rs377691143		TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:179638736C>T	ENST00000591111.1	-	31	7383	c.7159G>A	c.(7159-7161)Gtc>Atc	p.V2387I	TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V2341I|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V2341I|TTN_ENST00000460472.2_Missense_Mutation_p.V2341I|TTN_ENST00000589042.1_Missense_Mutation_p.V2387I|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V2387I|TTN_ENST00000360870.5_Missense_Mutation_p.V2387I|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12709	Ig-like 13.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V2341F(2)|p.V2387F(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCATCCAGACGCCTTCCACA	0.463																																						uc010zfg.1		NA																	4	Substitution - Missense(4)		breast(4)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(7159-7161)GTC>ATC		titin isoform N2-A		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	123.0	116.0	119.0		7021,7021,7159,7159,7021	1.0	0.2	2		119	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133379.3,NM_133378.4,NM_003319.4	29,29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	2341/27119,2341/27052,2387/5605,2387/33424,2341/26927	179638736	1,13005	2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179638736C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.7159G>A	2.37:g.179638736C>T	ENSP00000465570:p.Val2387Ile					TTN_uc010zfh.1_Missense_Mutation_p.V2341I|TTN_uc010zfi.1_Missense_Mutation_p.V2341I|TTN_uc010zfj.1_Missense_Mutation_p.V2341I|TTN_uc002unb.2_Missense_Mutation_p.V2387I|uc002unc.1_5'Flank	p.V2387I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		31	7383	-			2387					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.7159G>A		.	.	.	.	.	.	.	.	.	.	C	9.688	1.151233	0.21371	0.0	1.16E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.73	0.97	0.19692	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51126	0.1656	N	0.21617	0.685	0.09310	N	0.999999	B;B;B;B;B	0.13594	0.008;0.008;0.008;0.008;0.007	B;B;B;B;B	0.12156	0.004;0.004;0.004;0.007;0.002	T	0.46596	-0.9180	9	0.87932	D	0	.	9.9475	0.41618	0.0:0.6709:0.0:0.3291	.	2341;2341;2341;2387;2387	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	I	2387;2341;2341;2341;2341;2387	ENSP00000343764:V2387I;ENSP00000434586:V2341I;ENSP00000340554:V2341I;ENSP00000352154:V2341I;ENSP00000354117:V2387I	ENSP00000340554:V2341I	V	-	1	0	TTN	179346981	0.003000	0.15002	0.173000	0.22940	0.953000	0.61014	0.068000	0.14531	0.100000	0.17581	-0.143000	0.13931	GTC		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	107	0	0	0	0	21	107				
SF3B1	23451	broad.mit.edu	37	2	198272767	198272767	+	Silent	SNP	T	T	C	rs71422649		TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:198272767T>C	ENST00000335508.6	-	9	1285	c.1194A>G	c.(1192-1194)ccA>ccG	p.P398P		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	398	Interaction with PPP1R8.				anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CATCAGAAAGTGGGCGATTTC	0.358			Mis		myelodysplastic syndrome																																	uc002uue.2		NA		Dom	yes		2	2q33.1	23451		"""splicing factor 3b, subunit 1, 155kDa"""			L					0				pancreas(3)|ovary(1)|breast(1)|skin(1)	6						c.(1192-1194)CCA>CCG		splicing factor 3b, subunit 1 isoform 1							91.0	88.0	89.0					2																	198272767		2203	4300	6503	SO:0001819	synonymous_variant	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198272767T>C	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1194A>G	2.37:g.198272767T>C							p.P398P	NM_012433	NP_036565	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		9	1242	-			398			Interaction with PPP1R8.		E9PCH3	Silent	SNP	ENST00000335508.6	37	c.1194A>G	CCDS33356.1																																																																																				0.358	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			12	32	0	0	0	0	12	32				
TUBA4A	7277	broad.mit.edu	37	2	220116737	220116737	+	Silent	SNP	C	C	T	rs567717225		TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:220116737C>T	ENST00000248437.4	-	2	392	c.219G>A	c.(217-219)acG>acA	p.T73T	TUBA4A_ENST00000498660.1_Intron|TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000392088.2_Silent_p.T58T	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	73					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	CACCAATGACCGTAGGCTCCA	0.527																																						uc002vkt.1		NA																	0				ovary(3)	3						c.(217-219)ACG>ACA		tubulin, alpha 4a							75.0	59.0	64.0					2																	220116737		2203	4300	6503	SO:0001819	synonymous_variant	7277				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:220116737C>T	AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"""Tubulins"""	12407	protein-coding gene	gene with protein product		191110	"""tubulin, alpha 1 (testis specific)"", ""tubulin, alpha 1"""	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.219G>A	2.37:g.220116737C>T						TUBA4A_uc010zkz.1_Silent_p.T58T|TUBA4B_uc002vku.2_5'Flank|TUBA4B_uc002vkv.1_5'Flank	p.T73T	NM_006000	NP_005991	P68366	TBA4A_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	277	-		Renal(207;0.0474)	73					A8MUB1|B3KNQ6|P05215	Silent	SNP	ENST00000248437.4	37	c.219G>A	CCDS2438.1																																																																																				0.527	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		9	29	0	0	0	0	9	29				
INHA	3623	broad.mit.edu	37	2	220439871	220439871	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:220439871T>A	ENST00000243786.2	+	2	904	c.724T>A	c.(724-726)Tct>Act	p.S242T		NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	242					cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|erythrocyte differentiation (GO:0030218)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|ovarian follicle development (GO:0001541)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|response to external stimulus (GO:0009605)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|inhibin A complex (GO:0043512)|inhibin-betaglycan-ActRII complex (GO:0034673)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTGGCCTTGGTCTCCCTCTGC	0.657																																						uc002vmk.1		NA																	0				ovary(1)	1						c.(724-726)TCT>ACT		inhibin alpha subunit precursor							57.0	60.0	59.0					2																	220439871		2203	4300	6503	SO:0001583	missense	3623				cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity	g.chr2:220439871T>A		CCDS2444.1	2q35	2013-09-19			ENSG00000123999	ENSG00000123999			6065	protein-coding gene	gene with protein product		147380				3345731	Standard	NM_002191		Approved		uc002vmk.2	P05111	OTTHUMG00000059237	ENST00000243786.2:c.724T>A	2.37:g.220439871T>A	ENSP00000243786:p.Ser242Thr						p.S242T	NM_002191	NP_002182	P05111	INHA_HUMAN		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	2	868	+		Renal(207;0.0183)	242					A8K8H5	Missense_Mutation	SNP	ENST00000243786.2	37	c.724T>A	CCDS2444.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.053757	0.75960	.	.	ENSG00000123999	ENST00000243786	D	0.86030	-2.06	5.37	4.22	0.49857	Transforming growth factor-beta, C-terminal (1);	0.130834	0.53938	D	0.000059	D	0.91243	0.7240	M	0.85197	2.74	0.53688	D	0.999975	D	0.69078	0.997	D	0.65323	0.934	D	0.91665	0.5345	9	.	.	.	-15.9528	10.6073	0.45402	0.0:0.0751:0.0:0.9249	.	242	P05111	INHA_HUMAN	T	242	ENSP00000243786:S242T	.	S	+	1	0	INHA	220148115	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	4.354000	0.59417	2.027000	0.59764	0.459000	0.35465	TCT		0.657	INHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131425.1			9	38	0	0	0	0	9	38				
CHRNG	1146	broad.mit.edu	37	2	233406237	233406237	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr2:233406237C>A	ENST00000389494.3	+	5	525	c.504C>A	c.(502-504)ttC>ttA	p.F168L	CHRNG_ENST00000389492.3_Intron	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	168					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	CCCTTATCTTCCAGTGAGGCC	0.582																																						uc002vsx.1		NA																	0					0						c.(502-504)TTC>TTA		cholinergic receptor, nicotinic, gamma							150.0	136.0	141.0					2																	233406237		2203	4300	6503	SO:0001583	missense	1146				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	g.chr2:233406237C>A	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.504C>A	2.37:g.233406237C>A	ENSP00000374145:p.Phe168Leu					CHRNG_uc010fyd.2_Missense_Mutation_p.F168L|CHRNG_uc010fye.1_Intron	p.F168L	NM_005199	NP_005190	P07510	ACHG_HUMAN		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	5	525	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	168			Extracellular (Potential).		B3KWM8|Q14DU4|Q53RG2	Missense_Mutation	SNP	ENST00000389494.3	37	c.504C>A	CCDS33400.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629968	0.87660	.	.	ENSG00000196811	ENST00000389494;ENST00000541596	D	0.81739	-1.53	4.75	3.87	0.44632	Neurotransmitter-gated ion-channel ligand-binding (3);	0.060738	0.64402	D	0.000003	D	0.88618	0.6485	M	0.80982	2.52	0.58432	D	0.999999	D	0.67145	0.996	D	0.68621	0.959	D	0.89229	0.3576	10	0.62326	D	0.03	.	12.8757	0.57989	0.0:0.9202:0.0:0.0798	.	168	P07510	ACHG_HUMAN	L	168	ENSP00000374145:F168L	ENSP00000374145:F168L	F	+	3	2	CHRNG	233114481	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	3.068000	0.50018	0.987000	0.38709	0.462000	0.41574	TTC		0.582	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199		35	102	1	0	6.06e-23	1.1e-22	35	102				
TRIB3	57761	broad.mit.edu	37	20	368670	368670	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr20:368670C>T	ENST00000217233.3	+	2	569	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	TRIB3_ENST00000422053.2_Silent_p.L33L|TRIB3_ENST00000485293.1_3'UTR	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	6	Interaction with DDIT3/CHOP.				cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		AGCCACCCCTCTGGCTGCTCC	0.572																																					Melanoma(101;421 2374 19538)	uc002wdm.2		NA																	0				central_nervous_system(2)	2						c.(16-18)CTG>TTG		tribbles 3							49.0	54.0	52.0					20																	368670		2203	4300	6503	SO:0001819	synonymous_variant	57761				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr20:368670C>T	AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"""chromosome 20 open reading frame 97"", ""tribbles homolog 3 (Drosophila)"""	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.16C>T	20.37:g.368670C>T						TRIB3_uc002wdn.2_Silent_p.L33L	p.L6L	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)	2	522	+		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)	6					Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Silent	SNP	ENST00000217233.3	37	c.16C>T	CCDS12997.1																																																																																				0.572	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077441.2	NM_021158		19	76	0	0	0	0	19	76				
SNPH	9751	broad.mit.edu	37	20	1285638	1285638	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr20:1285638T>A	ENST00000381873.3	+	6	661	c.425T>A	c.(424-426)aTc>aAc	p.I142N	SNPH_ENST00000381867.1_Missense_Mutation_p.I186N	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	142					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CGAAAGGAGATCAAGCAGCTC	0.562																																						uc002wes.2		NA																	0				ovary(2)	2						c.(424-426)ATC>AAC		syntaphilin							127.0	115.0	119.0					20																	1285638		2203	4300	6503	SO:0001583	missense	9751				synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	g.chr20:1285638T>A		CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.425T>A	20.37:g.1285638T>A	ENSP00000371297:p.Ile142Asn					SNPH_uc002wet.2_Missense_Mutation_p.I186N	p.I142N	NM_014723	NP_055538	O15079	SNPH_HUMAN			6	661	+			142			Potential.		Q8IYI3	Missense_Mutation	SNP	ENST00000381873.3	37	c.425T>A	CCDS13012.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.038929	0.75617	.	.	ENSG00000101298	ENST00000381873;ENST00000381867	T;T	0.79033	-1.23;-1.23	4.57	4.57	0.56435	.	0.000000	0.64402	D	0.000001	D	0.86163	0.5867	M	0.68952	2.095	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.87841	0.2651	10	0.87932	D	0	-24.5807	14.0455	0.64702	0.0:0.0:0.0:1.0	.	186;142	O15079-2;O15079	.;SNPH_HUMAN	N	142;186	ENSP00000371297:I142N;ENSP00000371291:I186N	ENSP00000371291:I186N	I	+	2	0	SNPH	1233638	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.825000	0.86693	2.050000	0.60909	0.533000	0.62120	ATC		0.562	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	NM_014723		34	94	0	0	0	0	34	94				
LZTS3	9762	broad.mit.edu	37	20	3146664	3146664	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr20:3146664A>C	ENST00000329152.3	-	2	2199	c.802T>G	c.(802-804)Tcg>Gcg	p.S268A	LZTS3_ENST00000337576.5_Missense_Mutation_p.S268A|LZTS3_ENST00000360342.3_Missense_Mutation_p.S268A			O60299	LZTS3_HUMAN		268						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											TGGTAGCCCGACCCCCCACCG	0.662																																						uc002wia.1		NA																	0				pancreas(1)	1						c.(802-804)TCG>GCG		ProSAPiP1 protein							32.0	30.0	31.0					20																	3146664		2203	4300	6503	SO:0001583	missense	9762					cell junction|cytoplasm|postsynaptic density|postsynaptic membrane		g.chr20:3146664A>C																												ENST00000329152.3:c.802T>G	20.37:g.3146664A>C	ENSP00000332123:p.Ser268Ala					ProSAPiP1_uc002wib.1_Missense_Mutation_p.S268A	p.S268A	NM_014731	NP_055546	O60299	PRIP1_HUMAN			2	2200	-			268					A2A2Q7|D3DVX6|Q8IXX8	Missense_Mutation	SNP	ENST00000329152.3	37	c.802T>G	CCDS13049.1	.	.	.	.	.	.	.	.	.	.	A	8.614	0.889755	0.17540	.	.	ENSG00000088899	ENST00000329152;ENST00000360342;ENST00000337576	T;T;T	0.41400	1.0;1.52;1.52	5.46	0.277	0.15668	.	5.061020	0.00166	N	0.000008	T	0.16599	0.0399	N	0.03608	-0.345	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.14023	0.01;0.003	T	0.20605	-1.0270	10	0.07482	T	0.82	-2.4182	0.485	0.00554	0.4406:0.1839:0.1991:0.1764	.	268;268	O60299-2;O60299	.;PRIP1_HUMAN	A	268	ENSP00000332123:S268A;ENSP00000353496:S268A;ENSP00000338166:S268A	ENSP00000332123:S268A	S	-	1	0	RP5-1187M17.10	3094664	0.990000	0.36364	0.982000	0.44146	0.964000	0.63967	2.010000	0.40913	0.369000	0.24510	0.459000	0.35465	TCG		0.662	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077715.2			7	45	0	0	0	0	7	45				
CDS2	8760	broad.mit.edu	37	20	5169722	5169722	+	Missense_Mutation	SNP	C	C	T	rs376439839		TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr20:5169722C>T	ENST00000460006.1	+	11	1298	c.991C>T	c.(991-993)Cgg>Tgg	p.R331W	CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000379062.4_Missense_Mutation_p.R211W|CDS2_ENST00000535100.1_Missense_Mutation_p.R101W	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	331					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						GAAAACGGTCCGGATGTACCC	0.458																																						uc002wls.2		NA																	0					0						c.(991-993)CGG>TGG		phosphatidate cytidylyltransferase 2		C	TRP/ARG	0,4406		0,0,2203	158.0	149.0	152.0		991	-3.9	0.1	20		152	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDS2	NM_003818.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	331/446	5169722	1,13005	2203	4300	6503	SO:0001583	missense	8760				phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity	g.chr20:5169722C>T	AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.991C>T	20.37:g.5169722C>T	ENSP00000419879:p.Arg331Trp					CDS2_uc010zqt.1_RNA|CDS2_uc002wlu.2_Silent_p.S282S|CDS2_uc010zqu.1_Missense_Mutation_p.R211W|CDS2_uc002wlv.2_Missense_Mutation_p.R233W|CDS2_uc010zqv.1_Missense_Mutation_p.R101W	p.R331W	NM_003818	NP_003809	O95674	CDS2_HUMAN			11	1248	+			331					B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Missense_Mutation	SNP	ENST00000460006.1	37	c.991C>T	CCDS13088.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.921689	0.33908	0.0	1.16E-4	ENSG00000101290	ENST00000460006;ENST00000379062;ENST00000535100	T;T	0.46451	0.87;0.99	5.62	-3.9	0.04181	.	0.481200	0.23674	N	0.045687	T	0.15176	0.0366	N	0.04018	-0.295	0.35324	D	0.784975	B;B;B	0.14012	0.001;0.001;0.009	B;B;B	0.10450	0.003;0.001;0.005	T	0.02471	-1.1154	10	0.37606	T	0.19	-11.3758	6.0819	0.19946	0.5515:0.2441:0.0:0.2044	.	101;211;331	F6VWC5;E7EQ83;O95674	.;.;CDS2_HUMAN	W	331;211;101	ENSP00000419879:R331W;ENSP00000440555:R101W	ENSP00000368352:R211W	R	+	1	2	CDS2	5117722	0.368000	0.25031	0.058000	0.19502	0.976000	0.68499	0.820000	0.27323	-0.436000	0.07254	-0.320000	0.08662	CGG		0.458	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077858.2			29	109	0	0	0	0	29	109				
PLCB1	23236	broad.mit.edu	37	20	8608996	8608996	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr20:8608996G>A	ENST00000338037.6	+	4	329	c.302G>A	c.(301-303)cGc>cAc	p.R101H	PLCB1_ENST00000378637.2_Missense_Mutation_p.R101H|PLCB1_ENST00000378641.3_Missense_Mutation_p.R101H	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	101					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTGGAGCAGCGCATGATCACA	0.453																																						uc002wnb.2		NA																	0				ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(301-303)CGC>CAC		phosphoinositide-specific phospholipase C beta 1							124.0	114.0	117.0					20																	8608996		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8608996G>A	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.302G>A	20.37:g.8608996G>A	ENSP00000338185:p.Arg101His					PLCB1_uc010zrb.1_5'UTR|PLCB1_uc010gbv.1_Missense_Mutation_p.R101H|PLCB1_uc002wmz.1_Missense_Mutation_p.R101H|PLCB1_uc002wna.2_Missense_Mutation_p.R101H|PLCB1_uc002wnc.1_5'UTR	p.R101H	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			4	305	+			101					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.302G>A	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759784	0.89932	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000404098;ENST00000441163;ENST00000535719	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	6.17	6.17	0.99709	.	0.045883	0.85682	N	0.000000	T	0.71048	0.3294	M	0.73962	2.25	0.58432	D	0.999995	P;D;D	0.89917	0.525;1.0;1.0	B;D;D	0.83275	0.039;0.984;0.996	T	0.69818	-0.5042	10	0.56958	D	0.05	.	19.6509	0.95805	0.0:0.0:1.0:0.0	.	101;101;100	Q9NQ66;Q9NQ66-2;B1AK73	PLCB1_HUMAN;.;.	H	101;101;101;100;21;21	ENSP00000367908:R101H;ENSP00000338185:R101H;ENSP00000367904:R101H;ENSP00000384001:R100H	ENSP00000338185:R101H	R	+	2	0	PLCB1	8556996	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.949000	0.70257	2.941000	0.99782	0.655000	0.94253	CGC		0.453	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			31	75	0	0	0	0	31	75				
FLRT3	23767	broad.mit.edu	37	20	14307545	14307545	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr20:14307545C>T	ENST00000378053.3	-	2	864	c.608G>A	c.(607-609)cGc>cAc	p.R203H	MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.R203H|FLRT3_ENST00000462077.1_5'Flank|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	203					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.R203H(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TAGAACCAGGCGTTTTAGACT	0.438																																						uc002wov.1		NA																	1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(607-609)CGC>CAC		fibronectin leucine rich transmembrane protein 3							74.0	74.0	74.0					20																	14307545		2203	4300	6503	SO:0001583	missense	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14307545C>T	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.608G>A	20.37:g.14307545C>T	ENSP00000367292:p.Arg203His					MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.R203H	p.R203H	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	3	1075	-		Colorectal(1;0.0464)	203			Extracellular (Potential).|LRR 7.		D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	37	c.608G>A	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.431110	0.62844	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.56776	0.44;0.44	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.64853	0.2636	L	0.28556	0.865	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.60063	-0.7336	10	0.39692	T	0.17	-8.2668	20.8598	0.99761	0.0:1.0:0.0:0.0	.	203	Q9NZU0	FLRT3_HUMAN	H	203	ENSP00000367292:R203H;ENSP00000339912:R203H	ENSP00000339912:R203H	R	-	2	0	FLRT3	14255545	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.089000	0.71384	2.937000	0.99478	0.650000	0.86243	CGC		0.438	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		33	64	0	0	0	0	33	64				
EPB41L1	2036	broad.mit.edu	37	20	34797434	34797434	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr20:34797434G>A	ENST00000338074.2	+	15	1854	c.1693G>A	c.(1693-1695)Gag>Aag	p.E565K	EPB41L1_ENST00000373941.1_Missense_Mutation_p.E565K|EPB41L1_ENST00000441639.1_Missense_Mutation_p.E491K|EPB41L1_ENST00000373950.2_Missense_Mutation_p.E456K|EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000202028.5_Missense_Mutation_p.E491K	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	565					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GGAGGGCTCCGAGGAGAAAGT	0.552																																						uc002xfb.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1693-1695)GAG>AAG		erythrocyte membrane protein band 4.1-like 1							56.0	57.0	57.0					20																	34797434		2203	4300	6503	SO:0001583	missense	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34797434G>A	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1693G>A	20.37:g.34797434G>A	ENSP00000337168:p.Glu565Lys					EPB41L1_uc002xeu.2_Missense_Mutation_p.E491K|EPB41L1_uc010zvo.1_Missense_Mutation_p.E565K|EPB41L1_uc002xev.2_Missense_Mutation_p.E565K|EPB41L1_uc002xew.2_Missense_Mutation_p.E456K|EPB41L1_uc002xex.2_Intron|EPB41L1_uc002xey.2_Intron|EPB41L1_uc002xez.2_Missense_Mutation_p.E491K|EPB41L1_uc010gfq.2_Missense_Mutation_p.E664K	p.E565K	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN			15	1864	+	Breast(12;0.0239)		565					O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	c.1693G>A	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808714	0.50421	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000344237;ENST00000338074;ENST00000373941	D;D;D;D;D	0.85484	-1.99;-1.89;-1.99;-1.93;-1.93	5.87	5.87	0.94306	.	1.438130	0.03845	N	0.271298	D	0.88097	0.6345	L	0.29908	0.895	0.41908	D	0.99045	B;D;B;P;P;P	0.76494	0.071;0.999;0.287;0.787;0.707;0.593	B;D;B;B;B;B	0.65874	0.006;0.939;0.013;0.103;0.07;0.09	T	0.74731	-0.3566	10	0.14656	T	0.56	-9.7698	12.8356	0.57771	0.074:0.0:0.926:0.0	.	565;854;565;456;456;491	B7Z653;E9PCJ3;Q9H4G0;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;.;E41L1_HUMAN;.;.;.	K	491;456;565;456;491;854;565;565	ENSP00000202028:E491K;ENSP00000363061:E456K;ENSP00000399214:E491K;ENSP00000337168:E565K;ENSP00000363052:E565K	ENSP00000202028:E491K	E	+	1	0	EPB41L1	34260848	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.890000	0.56220	2.941000	0.99782	0.655000	0.94253	GAG		0.552	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		6	32	0	0	0	0	6	32				
TPST2	8459	broad.mit.edu	37	22	26937214	26937214	+	Missense_Mutation	SNP	A	A	C	rs200758682		TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr22:26937214A>C	ENST00000338754.4	-	3	653	c.383T>G	c.(382-384)gTg>gGg	p.V128G	TPST2_ENST00000398110.2_Missense_Mutation_p.V128G|TPST2_ENST00000403880.1_Missense_Mutation_p.V128G	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	128					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)	p.V128G(1)		central_nervous_system(1)|large_intestine(1)|lung(5)	7						CTCATCCGTCACCCCCGCCTC	0.672																																						uc003acv.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(382-384)GTG>GGG		tyrosylprotein sulfotransferase 2							34.0	28.0	30.0					22																	26937214		2201	4298	6499	SO:0001583	missense	8459				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr22:26937214A>C	AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12021	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog B (Drosophila)"""	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.383T>G	22.37:g.26937214A>C	ENSP00000339813:p.Val128Gly					TPST2_uc003acw.2_Missense_Mutation_p.V128G|TPST2_uc003acx.2_Missense_Mutation_p.V128G|TPST2_uc011akf.1_Missense_Mutation_p.V128G	p.V128G	NM_003595	NP_003586	O60704	TPST2_HUMAN			2	551	-			128			Lumenal (Potential).		B3KQA7|Q6FI98|Q9H0V4	Missense_Mutation	SNP	ENST00000338754.4	37	c.383T>G	CCDS13839.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.681749	0.47991	.	.	ENSG00000128294	ENST00000338754;ENST00000398110;ENST00000403880;ENST00000528868;ENST00000442495	.	.	.	5.33	5.33	0.75918	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000003	T	0.78685	0.4322	M	0.79475	2.455	0.80722	D	1	D	0.64830	0.994	D	0.74674	0.984	T	0.80939	-0.1158	9	0.56958	D	0.05	-31.6206	14.4823	0.67592	1.0:0.0:0.0:0.0	.	128	O60704	TPST2_HUMAN	G	128;128;128;61;128	.	ENSP00000339813:V128G	V	-	2	0	TPST2	25267214	1.000000	0.71417	1.000000	0.80357	0.070000	0.16714	6.838000	0.75359	2.023000	0.59567	0.496000	0.49642	GTG		0.672	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320820.3	NM_003595		10	10	0	0	0	0	10	10				
EP300	2033	broad.mit.edu	37	22	41489079	41489079	+	Nonsense_Mutation	SNP	C	C	A	rs373061594		TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr22:41489079C>A	ENST00000263253.7	+	1	1290	c.71C>A	c.(70-72)tCg>tAg	p.S24*	MIR1281_ENST00000408233.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	24	Interaction with ALX1.|Interaction with RORA.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|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 type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCGGCCCTCTCGGCGTCCGCC	0.542			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NA		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(70-72)TCG>TAG		E1A binding protein p300							50.0	57.0	55.0					22																	41489079		2203	4300	6503	SO:0001587	stop_gained	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41489079C>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.71C>A	22.37:g.41489079C>A	ENSP00000263253:p.Ser24*						p.S24*	NM_001429	NP_001420	Q09472	EP300_HUMAN			1	466	+			24			Interaction with ALX1.		B1AKC2	Nonsense_Mutation	SNP	ENST00000263253.7	37	c.71C>A	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	47	13.451703	0.99743	.	.	ENSG00000100393	ENST00000263253	.	.	.	4.7	4.7	0.59300	.	0.379080	0.16595	N	0.207585	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9919	0.80211	0.0:1.0:0.0:0.0	.	.	.	.	X	24	.	ENSP00000263253:S24X	S	+	2	0	EP300	39819025	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.738000	0.74822	2.449000	0.82847	0.591000	0.81541	TCG		0.542	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		19	105	1	0	1.68e-08	2.93e-08	19	105				
SHANK3	85358	broad.mit.edu	37	22	51143288	51143288	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr22:51143288G>A	ENST00000414786.2	+	15	2079	c.1852G>A	c.(1852-1854)Gag>Aag	p.E618K	SHANK3_ENST00000445220.2_Missense_Mutation_p.E633K|SHANK3_ENST00000262795.3_Missense_Mutation_p.E648K			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	632	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CTTCCTCATCGAGGTGAGGTC	0.692																																						uc003bne.1		NA																	0				central_nervous_system(1)	1						c.(1942-1944)GAG>AAG		SH3 and multiple ankyrin repeat domains 3							49.0	63.0	58.0					22																	51143288		2174	4276	6450	SO:0001583	missense	85358							g.chr22:51143288G>A	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.1852G>A	22.37:g.51143288G>A	ENSP00000464552:p.Glu618Lys					SHANK3_uc003bnf.1_Missense_Mutation_p.E103K	p.E648K	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	16	1942	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	648					D7UT47|Q8TET3	Missense_Mutation	SNP	ENST00000414786.2	37	c.1942G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.265415	0.95399	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.57107	0.42;0.42	5.15	5.15	0.70609	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.66674	0.2813	L	0.45581	1.43	0.39191	D	0.962952	D;D	0.89917	1.0;1.0	D;D	0.78314	0.981;0.991	T	0.71076	-0.4697	9	0.72032	D	0.01	.	16.1133	0.81278	0.0:0.0:1.0:0.0	.	633;648	Q9BYB0;F2Z3L0	SHAN3_HUMAN;.	K	648;633	ENSP00000442518:E648K;ENSP00000446078:E633K	ENSP00000442518:E648K	E	+	1	0	SHANK3	49490154	1.000000	0.71417	0.991000	0.47740	0.804000	0.45430	6.363000	0.73082	2.412000	0.81896	0.655000	0.94253	GAG		0.692	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		9	47	0	0	0	0	9	47				
ATP2B2	491	broad.mit.edu	37	3	10417306	10417306	+	Silent	SNP	C	C	T	rs372813016		TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr3:10417306C>T	ENST00000352432.4	-	10	1293	c.1224G>A	c.(1222-1224)acG>acA	p.T408T	ATP2B2_ENST00000360273.2_Silent_p.T408T|ATP2B2_ENST00000343816.4_Silent_p.T394T|ATP2B2_ENST00000397077.1_Silent_p.T363T|ATP2B2_ENST00000383800.4_Silent_p.T363T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	408					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGATGATCACCGTGATGGCTG	0.562																																					Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1222-1224)ACG>ACA		plasma membrane calcium ATPase 2 isoform 1		C	,	0,4406		0,0,2203	65.0	53.0	57.0		1224,1089	-8.8	0.4	3		57	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ATP2B2	NM_001001331.2,NM_001683.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	408/1244,363/1199	10417306	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10417306C>T	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1224G>A	3.37:g.10417306C>T						ATP2B2_uc003bvv.2_Silent_p.T363T|ATP2B2_uc003bvw.2_Silent_p.T363T|ATP2B2_uc010hdo.2_Silent_p.T113T	p.T408T	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			11	1663	-			408			Helical; (Potential).		O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.1224G>A	CCDS33701.1																																																																																				0.562	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		14	11	0	0	0	0	14	11				
ZNF621	285268	broad.mit.edu	37	3	40573572	40573572	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr3:40573572C>G	ENST00000339296.5	+	5	763	c.311C>G	c.(310-312)tCt>tGt	p.S104C	ZNF621_ENST00000403205.2_Missense_Mutation_p.S104C|ZNF621_ENST00000310898.1_Missense_Mutation_p.S104C|ZNF621_ENST00000431278.1_5'UTR|ZNF621_ENST00000490457.1_Intron	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	104					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		CAGGAAGCCTCTGAAGAAACA	0.423																																						uc003ckm.2		NA																	0				ovary(1)	1						c.(310-312)TCT>TGT		zinc finger protein 621							74.0	80.0	78.0					3																	40573572		2203	4300	6503	SO:0001583	missense	285268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:40573572C>G	AK127181	CCDS2693.1, CCDS74920.1	3p21.33	2013-01-08			ENSG00000172888	ENSG00000172888		"""Zinc fingers, C2H2-type"", ""-"""	24787	protein-coding gene	gene with protein product							Standard	XM_005265079		Approved	FLJ45246	uc003ckm.2	Q6ZSS3	OTTHUMG00000131389	ENST00000339296.5:c.311C>G	3.37:g.40573572C>G	ENSP00000340841:p.Ser104Cys					ZNF621_uc003ckn.2_Missense_Mutation_p.S104C|ZNF621_uc003cko.2_Missense_Mutation_p.S69C|ZNF621_uc011aze.1_Missense_Mutation_p.S96C	p.S104C	NM_001098414	NP_001091884	Q6ZSS3	ZN621_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)	5	527	+			104					Q14DC7|Q8TE91	Missense_Mutation	SNP	ENST00000339296.5	37	c.311C>G	CCDS2693.1	.	.	.	.	.	.	.	.	.	.	c	19.66	3.869558	0.72065	.	.	ENSG00000172888	ENST00000403205;ENST00000310898;ENST00000339296;ENST00000453351	T;T;T;T	0.07908	3.15;5.19;3.15;5.2	4.17	3.29	0.37713	.	0.367101	0.20150	N	0.098187	T	0.11922	0.0290	M	0.72479	2.2	0.09310	N	1	B;B	0.33448	0.412;0.008	B;B	0.32980	0.156;0.006	T	0.09228	-1.0684	10	0.48119	T	0.1	.	11.6369	0.51209	0.1793:0.8207:0.0:0.0	.	104;104	C9JM43;Q6ZSS3	.;ZN621_HUMAN	C	104	ENSP00000386051:S104C;ENSP00000312144:S104C;ENSP00000340841:S104C;ENSP00000408779:S104C	ENSP00000312144:S104C	S	+	2	0	ZNF621	40548576	0.000000	0.05858	0.002000	0.10522	0.942000	0.58702	-0.145000	0.10265	1.334000	0.45468	0.655000	0.94253	TCT		0.423	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	NM_198484		18	38	0	0	0	0	18	38				
RP11-93K22.13	0	broad.mit.edu	37	3	129813348	129813348	+	lincRNA	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr3:129813348C>T	ENST00000514010.1	-	0	0				AC083906.2_ENST00000578837.1_RNA|ALG1L2_ENST00000507643.1_RNA																							GGACTACCCCCGCTTCTAGGT	0.617																																						uc011bld.1		NA																	0					0						c.(415-417)CCG>CTG		asparagine-linked glycosylation 1-like 2																																						644974				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr3:129813348C>T																													3.37:g.129813348C>T						ALG1L2_uc010hth.2_Intron	p.P139L	NM_001136152	NP_001129624	C9J202	AG1L2_HUMAN			5	602	+			139						Missense_Mutation	SNP	ENST00000514010.1	37	c.416C>T																																																																																					0.617	RP11-93K22.13-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000358040.1			6	20	0	0	0	0	6	20				
ABCC5	10057	broad.mit.edu	37	3	183681281	183681281	+	Silent	SNP	G	G	A	rs201577338	byFrequency	TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr3:183681281G>A	ENST00000334444.6	-	15	2367	c.2127C>T	c.(2125-2127)gaC>gaT	p.D709D	ABCC5_ENST00000265586.6_Silent_p.D709D	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	709	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	TGAGGGGGTCGTCCAGGATGT	0.547													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18619	0.001		0.0	False		,,,				2504	0.0					uc003fmg.2		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(2125-2127)GAC>GAT		ATP-binding cassette, sub-family C, member 5							116.0	124.0	121.0					3																	183681281		1968	4143	6111	SO:0001819	synonymous_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183681281G>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2127C>T	3.37:g.183681281G>A						ABCC5_uc011bqt.1_Silent_p.D237D|ABCC5_uc010hxl.2_Silent_p.D709D	p.D709D	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		15	2292	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		709			ABC transporter 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	37	c.2127C>T	CCDS43176.1																																																																																				0.547	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		21	119	0	0	0	0	21	119				
UVSSA	57654	broad.mit.edu	37	4	1379683	1379683	+	Silent	SNP	C	C	T	rs369372040		TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr4:1379683C>T	ENST00000389851.4	+	14	2511	c.2064C>T	c.(2062-2064)gcC>gcT	p.A688A	UVSSA_ENST00000507422.1_3'UTR|UVSSA_ENST00000511216.1_Silent_p.A688A|UVSSA_ENST00000511563.1_Silent_p.A239A|UVSSA_ENST00000507531.1_Silent_p.A688A|UVSSA_ENST00000512728.1_Silent_p.A239A	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	688					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										TAGTGGCAGCCATGAACCGGA	0.592																																						uc003gde.3		NA																	0					0						c.(2062-2064)GCC>GCT		hypothetical protein LOC57654		C		1,4405	2.1+/-5.4	0,1,2202	122.0	109.0	113.0		2064	-0.1	1.0	4		113	0,8600		0,0,4300	no	coding-synonymous	KIAA1530	NM_020894.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		688/710	1379683	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57654							g.chr4:1379683C>T	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.2064C>T	4.37:g.1379683C>T						KIAA1530_uc010ibv.2_Silent_p.A239A	p.A688A	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0138)		14	2511	+			688					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Silent	SNP	ENST00000389851.4	37	c.2064C>T	CCDS33938.1																																																																																				0.592	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		45	42	0	0	0	0	45	42				
MFSD10	10227	broad.mit.edu	37	4	2932838	2932838	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr4:2932838C>T	ENST00000329687.4	-	11	1736	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	MFSD10_ENST00000507555.1_Missense_Mutation_p.A365T|MFSD10_ENST00000508221.1_Missense_Mutation_p.A355T|MFSD10_ENST00000355443.4_Missense_Mutation_p.R401H|MFSD10_ENST00000514800.1_Missense_Mutation_p.R401H	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	401					apoptotic process (GO:0006915)|tetracycline transport (GO:0015904)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)	tetracycline transporter activity (GO:0008493)			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		ACCTAGGCTGCGCAGTGTACC	0.706																																						uc003gfw.2		NA																	0					0						c.(1201-1203)CGC>CAC		major facilitator superfamily domain containing							20.0	23.0	22.0					4																	2932838		2178	4280	6458	SO:0001583	missense	10227				apoptosis	integral to membrane	tetracycline transporter activity	g.chr4:2932838C>T	L11669	CCDS3365.1	4p16.3	2008-03-03			ENSG00000109736	ENSG00000109736			16894	protein-coding gene	gene with protein product	"""tetracycline transporter like protein"""	610977				8353488, 17362938	Standard	NM_001120		Approved	TETRAN, IT10C3	uc003gfz.3	Q14728	OTTHUMG00000122081	ENST00000329687.4:c.1202G>A	4.37:g.2932838C>T	ENSP00000332646:p.Arg401His					MFSD10_uc003gfv.2_Missense_Mutation_p.R91H|MFSD10_uc003gfx.2_Missense_Mutation_p.R225H|MFSD10_uc003gfz.2_Missense_Mutation_p.R401H|MFSD10_uc003gfy.2_RNA|MFSD10_uc003gga.2_Missense_Mutation_p.A365T|MFSD10_uc003ggb.1_Missense_Mutation_p.R401H|MFSD10_uc003ggc.2_Missense_Mutation_p.A355T	p.R401H	NM_001120	NP_001111	Q14728	MFS10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	11	1516	-			401					Q07706	Missense_Mutation	SNP	ENST00000329687.4	37	c.1202G>A	CCDS3365.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	23.5|23.5	4.417939|4.417939	0.83449|0.83449	.|.	.|.	ENSG00000109736|ENSG00000109736	ENST00000508221;ENST00000507555|ENST00000514800;ENST00000355443;ENST00000329687	T;T|T;T;T	0.76316|0.57907	-0.85;-1.01|0.37;0.37;0.37	4.49|4.49	4.49|4.49	0.54785|0.54785	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.|0.000000	.|0.85682	.|U	.|0.000000	T|T	0.78780|0.78780	0.4337|0.4337	M|M	0.92317|0.92317	3.295|3.295	0.28340|0.28340	N|N	0.921403|0.921403	P;P|D;D	0.36438|0.89917	0.553;0.553|1.0;1.0	B;B|D;D	0.24006|0.97110	0.05;0.05|0.999;1.0	T|T	0.77284|0.77284	-0.2645|-0.2645	9|10	0.87932|0.72032	D|D	0|0.01	1.96|1.96	16.2209|16.2209	0.82257|0.82257	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	355;365|401;401	D6RIZ4;D6RA47|D6RE79;Q14728	.;.|.;MFS10_HUMAN	T|H	355;365|401	ENSP00000425757:A355T;ENSP00000423402:A365T|ENSP00000426907:R401H;ENSP00000347619:R401H;ENSP00000332646:R401H	ENSP00000423402:A365T|ENSP00000332646:R401H	A|R	-|-	1|2	0|0	MFSD10|MFSD10	2902636|2902636	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.509000|0.509000	0.34042|0.34042	7.128000|7.128000	0.77217|0.77217	2.049000|2.049000	0.60858|0.60858	0.550000|0.550000	0.68814|0.68814	GCA|CGC		0.706	MFSD10-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358072.2	NM_001120		5	5	0	0	0	0	5	5				
TRAM1L1	133022	broad.mit.edu	37	4	118005444	118005444	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr4:118005444G>A	ENST00000310754.4	-	1	1292	c.1106C>T	c.(1105-1107)tCa>tTa	p.S369L		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	369					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						CAAAGATTATGAAGATTTCTC	0.378																																						uc003ibv.3		NA																	0				central_nervous_system(1)	1						c.(1105-1107)TCA>TTA		translocation associated membrane protein 1-like							123.0	127.0	126.0					4																	118005444		2202	4300	6502	SO:0001583	missense	133022				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr4:118005444G>A	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.1106C>T	4.37:g.118005444G>A	ENSP00000309402:p.Ser369Leu						p.S369L	NM_152402	NP_689615	Q8N609	TR1L1_HUMAN			1	1293	-			369			Cytoplasmic (Potential).		Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	37	c.1106C>T	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200189	0.58126	.	.	ENSG00000174599	ENST00000310754	T	0.54866	0.55	3.74	3.74	0.42951	.	0.135828	0.52532	D	0.000075	T	0.52289	0.1725	N	0.24115	0.695	0.43118	D	0.994834	D	0.69078	0.997	P	0.58210	0.835	T	0.55166	-0.8183	10	0.46703	T	0.11	-14.5454	13.8494	0.63487	0.0:0.0:1.0:0.0	.	369	Q8N609	TR1L1_HUMAN	L	369	ENSP00000309402:S369L	ENSP00000309402:S369L	S	-	2	0	TRAM1L1	118224892	0.986000	0.35501	0.257000	0.24404	0.428000	0.31595	2.380000	0.44327	2.385000	0.81259	0.650000	0.86243	TCA		0.378	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402		48	62	0	0	0	0	48	62				
KLKB1	3818	broad.mit.edu	37	4	187175918	187175918	+	Splice_Site	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr4:187175918G>A	ENST00000264690.6	+	12	1676		c.e12+1		KLKB1_ENST00000513864.1_Splice_Site	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1						blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		AATTACACTGGTATGTAGCAT	0.383																																						uc003iyy.2		NA																	0				ovary(1)	1						c.e12+1		plasma kallikrein B1 precursor							40.0	42.0	41.0					4																	187175918		2203	4299	6502	SO:0001630	splice_region_variant	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187175918G>A	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1489+1G>A	4.37:g.187175918G>A						KLKB1_uc011clc.1_Splice_Site_p.E295_splice|KLKB1_uc011cld.1_Splice_Site_p.E459_splice	p.E497_splice	NM_000892	NP_000883	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	12	1560	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)						A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Splice_Site	SNP	ENST00000264690.6	37	c.1489_splice	CCDS34120.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808011	0.70797	.	.	ENSG00000164344	ENST00000511608;ENST00000264690;ENST00000513864;ENST00000418715	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0608	0.97674	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLKB1	187412912	1.000000	0.71417	0.993000	0.49108	0.842000	0.47809	5.898000	0.69838	2.750000	0.94351	0.655000	0.94253	.		0.383	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892	Intron	8	16	0	0	0	0	8	16				
F11	2160	broad.mit.edu	37	4	187201215	187201215	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr4:187201215A>T	ENST00000403665.2	+	8	1157	c.805A>T	c.(805-807)Att>Ttt	p.I269F	F11_ENST00000264692.4_Missense_Mutation_p.I217F	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	269	Apple 3. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	CAGTACACGCATTAAAAAGAG	0.398																																						uc003iza.1		NA																	0					0						c.(805-807)ATT>TTT		coagulation factor XI precursor	Coagulation Factor IX(DB00100)						80.0	80.0	80.0					4																	187201215		2203	4300	6503	SO:0001583	missense	2160				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	g.chr4:187201215A>T	M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"""plasma thromboplastin antecedent"""	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.805A>T	4.37:g.187201215A>T	ENSP00000384957:p.Ile269Phe						p.I269F	NM_000128	NP_000119	P03951	FA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	8	1138	+		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)	269			Apple 3.		D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	ENST00000403665.2	37	c.805A>T	CCDS3847.1	.	.	.	.	.	.	.	.	.	.	A	5.610	0.297367	0.10622	.	.	ENSG00000088926	ENST00000403665;ENST00000264692	D;D	0.89270	-2.49;-2.49	5.49	-2.71	0.05986	Apple domain (2);PAN-1 domain (1);Apple-like (1);	0.770776	0.12205	N	0.489832	T	0.79028	0.4377	L	0.41236	1.265	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.64824	-0.6316	10	0.46703	T	0.11	.	2.3445	0.04268	0.347:0.2112:0.0638:0.378	.	269	P03951	FA11_HUMAN	F	269;217	ENSP00000384957:I269F;ENSP00000264692:I217F	ENSP00000264692:I217F	I	+	1	0	F11	187438209	0.000000	0.05858	0.103000	0.21229	0.183000	0.23260	0.287000	0.18920	-0.180000	0.10637	-0.465000	0.05216	ATT		0.398	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4			14	41	0	0	0	0	14	41				
MYO10	4651	broad.mit.edu	37	5	16682098	16682098	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr5:16682098C>T	ENST00000513610.1	-	31	4525	c.4071G>A	c.(4069-4071)acG>acA	p.T1357T	MYO10_ENST00000274203.9_Silent_p.T714T|MYO10_ENST00000427430.2_Silent_p.T714T|MYO10_ENST00000515803.1_Silent_p.T696T|MYO10_ENST00000505695.1_Silent_p.T696T	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1357					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCCGGTTGGCCGTGATGATCA	0.582																																						uc003jft.3		NA																	0				ovary(2)|pancreas(1)	3						c.(4069-4071)ACG>ACA		myosin X							119.0	121.0	120.0					5																	16682098		2137	4228	6365	SO:0001819	synonymous_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16682098C>T	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.4071G>A	5.37:g.16682098C>T						MYO10_uc011cnb.1_5'UTR|MYO10_uc011cnc.1_Silent_p.T236T|MYO10_uc011cnd.1_Silent_p.T714T|MYO10_uc011cne.1_Silent_p.T714T|MYO10_uc010itx.2_Silent_p.T979T	p.T1357T	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			31	4539	-			1357					A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	c.4071G>A	CCDS54834.1																																																																																				0.582	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		26	183	0	0	0	0	26	183				
CDH6	1004	broad.mit.edu	37	5	31305351	31305351	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr5:31305351G>T	ENST00000265071.2	+	7	1335	c.1070G>T	c.(1069-1071)cGa>cTa	p.R357L	CDH6_ENST00000514738.1_Missense_Mutation_p.R302L	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	357	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTTGAGCCACGATTTCTCTAC	0.468																																						uc003jhe.1		NA																	0				ovary(4)|skin(2)|large_intestine(1)	7						c.(1069-1071)CGA>CTA		cadherin 6, type 2 preproprotein							89.0	88.0	88.0					5																	31305351		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31305351G>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1070G>T	5.37:g.31305351G>T	ENSP00000265071:p.Arg357Leu					CDH6_uc003jhd.1_Missense_Mutation_p.R357L	p.R357L	NM_004932	NP_004923	P55285	CADH6_HUMAN			7	1396	+			357			Cadherin 3.|Extracellular (Potential).		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.1070G>T	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554758	0.86231	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.51325	0.71;0.71	5.88	5.88	0.94601	Cadherin (4);Cadherin-like (1);	0.114481	0.64402	D	0.000013	T	0.68284	0.2984	M	0.64170	1.965	0.50467	D	0.999875	D;D	0.89917	0.996;1.0	D;D	0.71870	0.963;0.975	T	0.68731	-0.5331	10	0.87932	D	0	.	20.2187	0.98312	0.0:0.0:1.0:0.0	.	357;357	P55285;P55285-2	CADH6_HUMAN;.	L	302;357	ENSP00000424843:R302L;ENSP00000265071:R357L	ENSP00000265071:R357L	R	+	2	0	CDH6	31341108	0.994000	0.37717	1.000000	0.80357	0.963000	0.63663	5.384000	0.66225	2.780000	0.95670	0.655000	0.94253	CGA		0.468	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		46	61	1	0	8.21e-20	1.49e-19	46	61				
ZRSR1	7310	broad.mit.edu	37	5	112227939	112227939	+	Silent	SNP	T	T	C	rs712666	byFrequency	TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr5:112227939T>C	ENST00000391338.1	+	1	627	c.603T>C	c.(601-603)tcT>tcC	p.S201S	REEP5_ENST00000513339.1_Intron|CTC-487M23.8_ENST00000512790.1_3'UTR|CTC-487M23.5_ENST00000602872.1_RNA|CTC-487M23.8_ENST00000506997.1_3'UTR|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000504247.1_Intron	NM_001204199.1	NP_001191128.1	Q15695	U2AFL_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1	201						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.S201S(1)		breast(1)|skin(1)|stomach(2)	4						TCCCAACATCTAGTCCTACCC	0.453													C|||	1880	0.375399	0.6823	0.2867	5008	,	,		22598	0.1815		0.3638	False		,,,				2504	0.2352					uc011cvv.1		NA																	1	Substitution - coding silent(1)		stomach(1)		0						c.(676-678)TCT>TCC		SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2;																																				SO:0001819	synonymous_variant	6728				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding	g.chr5:112227939T>C	D49676		5q22.2	2013-02-12	2006-09-26	2006-09-26	ENSG00000212643	ENSG00000212643		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	12456	protein-coding gene	gene with protein product	"""U2(RNU2) small nuclear RNA auxiliary factor pseudogene 1"""	601079	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein-like"", ""U2(RNU2) small nuclear RNA auxillary factor 1-like 1"", ""U2 small nuclear RNA auxillary factor 1-like 1"""	U2AFBPL, U2AF1P, U2AF1L1		7956352	Standard	NG_005419		Approved	U2AF1-RS1, U2AF1RS1	uc021ycm.1	Q15695	OTTHUMG00000163143	ENST00000391338.1:c.603T>C	5.37:g.112227939T>C						SRP19_uc011cvu.1_Silent_p.S211S|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron	p.S226S			P09132	SRP19_HUMAN		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)	4	933	+		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)	Error:Variant_position_missing_in_P09132_after_alignment					B2R901|Q13570|Q2M3R8	Silent	SNP	ENST00000391338.1	37	c.678T>C																																																																																					0.453	ZRSR1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371801.1	NM_005083		3	117	0	0	0	0	3	117				
ZNF354A	6940	broad.mit.edu	37	5	178140587	178140587	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr5:178140587G>C	ENST00000335815.2	-	5	489	c.292C>G	c.(292-294)Caa>Gaa	p.Q98E		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	98					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TCTTGTGTTTGCGTTGACTTT	0.368																																						uc003mjj.2		NA																	0				ovary(2)|skin(1)	3						c.(292-294)CAA>GAA		zinc finger protein 354A							84.0	88.0	86.0					5																	178140587		2203	4299	6502	SO:0001583	missense	6940				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178140587G>C	AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"""Zinc fingers, C2H2-type"", ""-"""	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.292C>G	5.37:g.178140587G>C	ENSP00000337122:p.Gln98Glu						p.Q98E	NM_005649	NP_005640	O60765	Z354A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)	5	490	-	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	98					Q9UNJ8	Missense_Mutation	SNP	ENST00000335815.2	37	c.292C>G	CCDS4438.1	.	.	.	.	.	.	.	.	.	.	G	3.175	-0.169125	0.06461	.	.	ENSG00000169131	ENST00000335815;ENST00000520331	T;T	0.05996	3.36;6.13	4.79	4.79	0.61399	.	0.000000	0.32015	N	0.006705	T	0.07954	0.0199	N	0.08118	0	0.32805	D	0.500605	D	0.54964	0.969	D	0.64877	0.93	T	0.03875	-1.0996	10	0.02654	T	1	-18.8422	15.7584	0.78054	0.0:0.0:1.0:0.0	.	98	O60765	Z354A_HUMAN	E	98	ENSP00000337122:Q98E;ENSP00000429675:Q98E	ENSP00000337122:Q98E	Q	-	1	0	ZNF354A	178073193	0.289000	0.24334	1.000000	0.80357	0.819000	0.46315	2.847000	0.48270	2.658000	0.90341	0.650000	0.86243	CAA		0.368	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649		37	47	0	0	0	0	37	47				
ZNF184	7738	broad.mit.edu	37	6	27420986	27420986	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr6:27420986C>T	ENST00000211936.6	-	6	636	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	ZNF184_ENST00000377419.1_Missense_Mutation_p.E118K	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	118					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGCTCTTCTTCAGAAATGTCA	0.378																																						uc003njj.2		NA																	0				ovary(1)	1						c.(352-354)GAA>AAA		zinc finger protein 184							68.0	72.0	71.0					6																	27420986		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420986C>T	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.352G>A	6.37:g.27420986C>T	ENSP00000211936:p.Glu118Lys					ZNF184_uc010jqv.2_Missense_Mutation_p.E118K|ZNF184_uc003nji.2_Missense_Mutation_p.E118K	p.E118K	NM_007149	NP_009080	Q99676	ZN184_HUMAN			5	1163	-			118					B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.352G>A	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559699	0.27827	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.06449	3.3;3.3	5.33	3.48	0.39840	.	0.263636	0.27375	N	0.019650	T	0.00906	0.0030	N	0.17312	0.475	0.09310	N	1	B	0.23735	0.09	B	0.14023	0.01	T	0.46816	-0.9164	10	0.07813	T	0.8	.	6.6241	0.22820	0.1761:0.7333:0.0:0.0906	.	118	Q99676	ZN184_HUMAN	K	118	ENSP00000211936:E118K;ENSP00000366636:E118K	ENSP00000211936:E118K	E	-	1	0	ZNF184	27528965	0.005000	0.15991	0.294000	0.24946	0.939000	0.58152	1.636000	0.37144	1.481000	0.48307	0.561000	0.74099	GAA		0.378	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		43	43	0	0	0	0	43	43				
MOG	4340	broad.mit.edu	37	6	29633938	29633938	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr6:29633938A>G	ENST00000376917.3	+	3	675	c.446A>G	c.(445-447)tAc>tGc	p.Y149C	MOG_ENST00000376898.3_Missense_Mutation_p.Y149C|MOG_ENST00000431798.2_Missense_Mutation_p.Y149C|MOG_ENST00000483013.1_Missense_Mutation_p.Y33C|MOG_ENST00000396704.3_Missense_Mutation_p.Y149C|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000490427.1_Missense_Mutation_p.Y33C|MOG_ENST00000396701.2_Missense_Mutation_p.Y149C|MOG_ENST00000494692.1_Missense_Mutation_p.Y149C|MOG_ENST00000416766.2_Intron|MOG_ENST00000376891.4_Missense_Mutation_p.Y149C|MOG_ENST00000376888.2_Missense_Mutation_p.Y33C|MOG_ENST00000376894.4_Missense_Mutation_p.Y149C	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	149					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						gatcctttctactgggTGAGC	0.532																																						uc003nnf.2		NA																	0				ovary(1)	1						c.(445-447)TAC>TGC		myelin oligodendrocyte glycoprotein isoform							282.0	229.0	248.0					6																	29633938		1511	2709	4220	SO:0001583	missense	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29633938A>G		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.446A>G	6.37:g.29633938A>G	ENSP00000366115:p.Tyr149Cys					MOG_uc003nmy.1_Missense_Mutation_p.Y149C|MOG_uc003nmz.2_3'UTR|MOG_uc011dlt.1_Missense_Mutation_p.Y79C|MOG_uc003nna.2_Missense_Mutation_p.Y33C|MOG_uc011dlu.1_Missense_Mutation_p.Y33C|MOG_uc011dlv.1_Missense_Mutation_p.Y33C|MOG_uc003nnd.2_3'UTR|MOG_uc003nne.2_Missense_Mutation_p.Y149C|MOG_uc003nng.2_Missense_Mutation_p.Y149C|MOG_uc003nnh.2_Missense_Mutation_p.Y149C|MOG_uc003nni.2_Missense_Mutation_p.Y149C|MOG_uc003nnj.2_Missense_Mutation_p.Y149C|MOG_uc003nnk.2_Missense_Mutation_p.Y149C	p.Y149C	NM_206809	NP_996532	Q16653	MOG_HUMAN			3	624	+			149			Extracellular (Potential).		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.446A>G	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	A	19.57	3.852288	0.71719	.	.	ENSG00000204655	ENST00000376917;ENST00000376888;ENST00000376894;ENST00000483013;ENST00000490427;ENST00000376891;ENST00000376898;ENST00000431798;ENST00000396701;ENST00000494692;ENST00000396704	T;T;T;T;T;T;T;T;T;T;T	0.34072	3.39;1.42;3.39;1.39;1.38;3.42;3.4;3.42;3.4;3.4;3.41	5.71	5.71	0.89125	.	0.129151	0.35838	N	0.002957	T	0.45597	0.1350	L	0.53249	1.67	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.998;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.958;0.998;0.999;0.998;0.999;0.998;0.998	T	0.50389	-0.8834	10	0.87932	D	0	.	12.3706	0.55252	1.0:0.0:0.0:0.0	.	33;33;79;149;149;149;149;149;149;149;33;149	E9PG44;E9PGF0;B7Z2X8;F8W9D5;Q16653-2;Q16653-3;Q16653-6;Q16653-7;Q16653;Q16653-5;Q16653-4;Q5SUK5	.;.;.;.;.;.;.;.;MOG_HUMAN;.;.;.	C	149;33;149;33;33;149;149;149;149;149;149	ENSP00000366115:Y149C;ENSP00000366085:Y33C;ENSP00000366091:Y149C;ENSP00000418090:Y33C;ENSP00000420350:Y33C;ENSP00000366088:Y149C;ENSP00000366095:Y149C;ENSP00000410866:Y149C;ENSP00000379929:Y149C;ENSP00000417405:Y149C;ENSP00000379932:Y149C	ENSP00000366085:Y33C	Y	+	2	0	MOG	29741917	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.870000	0.39529	2.169000	0.68431	0.533000	0.62120	TAC		0.532	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		52	57	0	0	0	0	52	57				
HLA-DRA	3122	broad.mit.edu	37	6	32410230	32410230	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr6:32410230C>T	ENST00000374982.5	+	2	161	c.88C>T	c.(88-90)Cat>Tat	p.H30Y	HLA-DRA_ENST00000395388.2_Missense_Mutation_p.H30Y			P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	30	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002504)|cognition (GO:0050890)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|polysaccharide assembly with MHC class II protein complex (GO:0002506)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						TTCAGAAGAACATGTGATCAT	0.433									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of																													uc003obh.2		NA																	0				ovary(1)|skin(1)	2						c.(88-90)CAT>TAT		major histocompatibility complex, class II, DR							142.0	158.0	152.0					6																	32410230		1511	2708	4219	SO:0001583	missense	3122	T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Kaposi_Sarcoma_Familial_Clustering_of	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32410230C>T		CCDS4750.1	6p21.3	2013-01-11			ENSG00000204287	ENSG00000204287		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4947	protein-coding gene	gene with protein product		142860		HLA-DRA1			Standard	NM_019111		Approved		uc003obh.3	P01903	OTTHUMG00000031269	ENST00000374982.5:c.88C>T	6.37:g.32410230C>T	ENSP00000364121:p.His30Tyr					HLA-DRA_uc003obi.2_Missense_Mutation_p.H30Y	p.H30Y	NM_019111	NP_061984	P01903	DRA_HUMAN			2	169	+			30			Extracellular (Potential).|Alpha-1.		A2BET4|Q30160|Q6IAZ1|Q861I2|Q9TP70	Missense_Mutation	SNP	ENST00000374982.5	37	c.88C>T		.	.	.	.	.	.	.	.	.	.	.	16.33	3.093201	0.56075	.	.	ENSG00000204287	ENST00000395388;ENST00000374982	T;T	0.01172	5.23;5.23	5.38	4.5	0.54988	MHC class II, alpha/beta chain, N-terminal (1);MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (2);	0.424641	0.26931	N	0.021765	T	0.03305	0.0096	M	0.86178	2.8	0.21020	N	0.999804	D;D	0.89917	0.997;1.0	D;D	0.78314	0.961;0.991	T	0.21724	-1.0237	10	0.59425	D	0.04	.	11.9127	0.52747	0.0:0.8251:0.1749:0.0	.	30;30	Q30118;P01903	.;DRA_HUMAN	Y	30	ENSP00000378786:H30Y;ENSP00000364121:H30Y	ENSP00000364121:H30Y	H	+	1	0	HLA-DRA	32518208	0.386000	0.25180	0.149000	0.22428	0.694000	0.40290	1.357000	0.34090	1.483000	0.48342	0.638000	0.83543	CAT		0.433	HLA-DRA-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000076587.3	NM_019111		51	161	0	0	0	0	51	161				
TAP1	6890	broad.mit.edu	37	6	32816769	32816769	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr6:32816769C>T	ENST00000354258.4	-	6	1716	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K	PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Missense_Mutation_p.E258K|TAPSAR1_ENST00000453426.1_lincRNA	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	519	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.|Involved in peptide-binding site.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	GACCTCACCTCCACAGCCTGG	0.532																																						uc003ocg.2		NA																	0				skin(1)	1						c.(1555-1557)GAG>AAG		transporter 1, ATP-binding cassette, sub-family							78.0	52.0	61.0					6																	32816769		1511	2709	4220	SO:0001583	missense	6890				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32816769C>T		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.1555G>A	6.37:g.32816769C>T	ENSP00000346206:p.Glu519Lys					TAP1_uc011dqi.1_Missense_Mutation_p.E258K	p.E519K	NM_000593	NP_000584	Q03518	TAP1_HUMAN			6	1710	-			519			Involved in peptide-binding site.|Helical; Name=10; (Potential).|ABC transmembrane type-1.		Q16149|Q96CP4	Missense_Mutation	SNP	ENST00000354258.4	37	c.1555G>A	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332702	0.41297	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	T;T	0.80123	-1.34;-1.34	5.02	2.23	0.28157	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	1.695850	0.03626	N	0.237139	T	0.67183	0.2866	L	0.55103	1.725	0.49130	D	0.999753	B	0.25048	0.117	B	0.29077	0.098	T	0.60188	-0.7312	10	0.62326	D	0.03	-13.5432	8.6815	0.34212	0.0:0.6324:0.2862:0.0814	.	519	Q03518	TAP1_HUMAN	K	519;258	ENSP00000346206:E519K;ENSP00000401919:E258K	ENSP00000346206:E519K	E	-	1	0	TAP1	32924747	0.002000	0.14202	0.973000	0.42090	0.390000	0.30446	-0.008000	0.12788	0.271000	0.22005	0.643000	0.83706	GAG		0.532	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593		12	29	0	0	0	0	12	29				
GINM1	116254	broad.mit.edu	37	6	149893688	149893688	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr6:149893688G>C	ENST00000367419.5	+	3	347	c.226G>C	c.(226-228)Gac>Cac	p.D76H	RP1-12G14.6_ENST00000435273.2_RNA	NM_138785.3	NP_620140.1	Q9NU53	GINM1_HUMAN	glycoprotein integral membrane 1	76						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GTATGTAAATGACTTACCTGT	0.308																																						uc003qmq.1		NA																	0					0						c.(226-228)GAC>CAC		hypothetical protein LOC116254 precursor							126.0	128.0	127.0					6																	149893688		2203	4300	6503	SO:0001583	missense	116254					integral to membrane		g.chr6:149893688G>C	BC014320	CCDS5216.1	6q24.3	2012-07-20	2012-07-20	2012-07-20	ENSG00000055211	ENSG00000055211			21074	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 72"""	C6orf72			Standard	NM_138785		Approved	dJ12G14.2	uc003qmq.1	Q9NU53	OTTHUMG00000015789	ENST00000367419.5:c.226G>C	6.37:g.149893688G>C	ENSP00000356389:p.Asp76His					C6orf72_uc010kie.1_Intron	p.D76H	NM_138785	NP_620140	Q9NU53	CF072_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171)	3	253	+		Ovarian(120;0.0907)	76			Extracellular (Potential).		B2RDY7|E1P5A2	Missense_Mutation	SNP	ENST00000367419.5	37	c.226G>C	CCDS5216.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072467	0.76415	.	.	ENSG00000055211	ENST00000367419	.	.	.	5.78	5.78	0.91487	.	0.113498	0.64402	D	0.000013	T	0.70824	0.3268	M	0.68952	2.095	0.48185	D	0.999603	D	0.71674	0.998	P	0.61592	0.891	T	0.69269	-0.5189	8	.	.	.	-7.8785	18.1807	0.89777	0.0:0.0:1.0:0.0	.	76	Q9NU53	CF072_HUMAN	H	76	.	.	D	+	1	0	C6orf72	149935381	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.723000	0.68492	2.726000	0.93360	0.650000	0.86243	GAC		0.308	GINM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042644.1	NM_138785		15	39	0	0	0	0	15	39				
RSPH3	83861	broad.mit.edu	37	6	159401883	159401883	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr6:159401883C>T	ENST00000252655.1	-	6	1397	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H	RSPH3_ENST00000297262.3_Missense_Mutation_p.R307H|RSPH3_ENST00000449822.1_Missense_Mutation_p.R165H|RSPH3_ENST00000367069.2_Missense_Mutation_p.R261H	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	403										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		AGCCAGGTAACGCTGTGCAAA	0.463																																						uc003qrx.2		NA																	0				ovary(1)|skin(1)	2						c.(1207-1209)CGT>CAT		radial spoke 3 homolog							206.0	162.0	177.0					6																	159401883		2203	4300	6503	SO:0001583	missense	83861							g.chr6:159401883C>T	AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"""radial spokehead-like 2"""	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.1208G>A	6.37:g.159401883C>T	ENSP00000252655:p.Arg403His					RSPH3_uc010kju.2_Missense_Mutation_p.R307H	p.R403H	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)	6	1398	-		Breast(66;0.00519)|Ovarian(120;0.123)	403					Q96LQ5|Q96LX2|Q9BX75	Missense_Mutation	SNP	ENST00000252655.1	37	c.1208G>A	CCDS5260.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.903320	0.52333	.	.	ENSG00000130363	ENST00000367069;ENST00000449822;ENST00000252655;ENST00000297262	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.81	1.57	0.23409	.	0.373651	0.32386	N	0.006176	T	0.11537	0.0281	L	0.39020	1.185	0.25724	N	0.985346	D;D	0.76494	0.999;0.998	D;P	0.65323	0.934;0.899	T	0.07927	-1.0747	10	0.44086	T	0.13	-10.9622	6.6624	0.23022	0.1247:0.5883:0.0:0.287	.	307;403	Q86UC2-2;Q86UC2	.;RSPH3_HUMAN	H	261;165;403;307	ENSP00000356036:R261H;ENSP00000393195:R165H;ENSP00000252655:R403H;ENSP00000297262:R307H	ENSP00000252655:R403H	R	-	2	0	RSPH3	159321871	0.971000	0.33674	0.897000	0.35233	0.612000	0.37316	2.103000	0.41806	0.370000	0.24538	-0.229000	0.12294	CGT		0.463	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924		12	40	0	0	0	0	12	40				
ANLN	54443	broad.mit.edu	37	7	36459871	36459871	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:36459871C>T	ENST00000265748.2	+	11	2184	c.1963C>T	c.(1963-1965)Cga>Tga	p.R655*	ANLN_ENST00000396068.2_Nonsense_Mutation_p.R618*	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	655	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TCGTGTCCCTCGAGCTGAATC	0.443																																						uc003tff.2		NA																	0				ovary(2)|skin(1)	3						c.(1963-1965)CGA>TGA		anillin, actin binding protein							119.0	113.0	115.0					7																	36459871		2203	4300	6503	SO:0001587	stop_gained	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36459871C>T	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.1963C>T	7.37:g.36459871C>T	ENSP00000265748:p.Arg655*					ANLN_uc011kaz.1_Nonsense_Mutation_p.R567*|ANLN_uc003tfg.2_Nonsense_Mutation_p.R618*|ANLN_uc010kxe.2_Nonsense_Mutation_p.R617*	p.R655*	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN			11	2167	+			655			Interaction with F-actin.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Nonsense_Mutation	SNP	ENST00000265748.2	37	c.1963C>T	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	C	42	9.697901	0.99241	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	.	.	.	5.84	3.83	0.44106	.	0.168121	0.50627	D	0.000113	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4903	11.4488	0.50140	0.5111:0.4889:0.0:0.0	.	.	.	.	X	655;618	.	ENSP00000265748:R655X	R	+	1	2	ANLN	36426396	0.934000	0.31675	0.998000	0.56505	0.988000	0.76386	1.033000	0.30191	1.436000	0.47453	0.655000	0.94253	CGA		0.443	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		20	156	0	0	0	0	20	156				
SFRP4	6424	broad.mit.edu	37	7	37956018	37956018	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:37956018C>A	ENST00000436072.2	-	1	499	c.122G>T	c.(121-123)cGg>cTg	p.R41L	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	41	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GTTGGGCATCCGCGTGATGTT	0.692																																						uc003tfo.3		NA																	0				lung(1)	1						c.(121-123)CGG>CTG		secreted frizzled-related  protein 4 precursor							153.0	122.0	133.0					7																	37956018		2203	4300	6503	SO:0001583	missense	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37956018C>A	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.122G>T	7.37:g.37956018C>A	ENSP00000410715:p.Arg41Leu						p.R41L	NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN			1	508	-			41			FZ.		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	ENST00000436072.2	37	c.122G>T	CCDS5453.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174918	0.78564	.	.	ENSG00000106483	ENST00000436072;ENST00000446575	T	0.73789	-0.78	4.62	4.62	0.57501	Frizzled domain (5);	0.064504	0.64402	D	0.000008	T	0.79953	0.4535	L	0.52206	1.635	0.41380	D	0.98754	D	0.61697	0.99	D	0.67382	0.951	T	0.80567	-0.1325	10	0.56958	D	0.05	.	10.0631	0.42286	0.0:0.9059:0.0:0.0941	.	41	Q6FHJ7	SFRP4_HUMAN	L	41;63	ENSP00000410715:R41L	ENSP00000410715:R41L	R	-	2	0	SFRP4	37922543	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.812000	0.38952	2.376000	0.81061	0.557000	0.71058	CGG		0.692	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		5	147	1	0	0.000602214	0.0010179	5	147				
AEBP1	165	broad.mit.edu	37	7	44153489	44153489	+	Missense_Mutation	SNP	C	C	T	rs534996461		TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:44153489C>T	ENST00000223357.3	+	21	3411	c.3106C>T	c.(3106-3108)Cgg>Tgg	p.R1036W	AEBP1_ENST00000450684.2_Missense_Mutation_p.R611W|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1036	Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GATGCGGCTGCGGCGCCTCAA	0.692																																						uc003tkb.2		NA																	0					0						c.(3106-3108)CGG>TGG		adipocyte enhancer binding protein 1 precursor							51.0	54.0	53.0					7																	44153489		2203	4298	6501	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44153489C>T	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3106C>T	7.37:g.44153489C>T	ENSP00000223357:p.Arg1036Trp					AEBP1_uc003tkc.3_Missense_Mutation_p.R611W|AEBP1_uc003tkd.2_Missense_Mutation_p.R286W	p.R1036W	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN			21	3411	+			1036			Required for transcriptional repression (By similarity).|Interaction with MAPK1 and MAPK3 (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.3106C>T	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672484	0.67928	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	D;D	0.96265	-3.96;-3.28	5.33	2.44	0.29823	.	0.464257	0.21324	N	0.076415	D	0.94899	0.8351	L	0.29908	0.895	0.09310	N	1	D;D	0.69078	0.997;0.995	P;P	0.53861	0.736;0.549	D	0.89795	0.3971	10	0.87932	D	0	-28.1716	13.492	0.61402	0.4064:0.5936:0.0:0.0	.	611;1036	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	W	1036;611	ENSP00000223357:R1036W;ENSP00000398878:R611W	ENSP00000223357:R1036W	R	+	1	2	AEBP1	44120014	0.105000	0.21958	0.615000	0.29064	0.984000	0.73092	2.097000	0.41748	0.201000	0.20466	0.557000	0.71058	CGG		0.692	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		12	38	0	0	0	0	12	38				
ZMIZ2	83637	broad.mit.edu	37	7	44797689	44797689	+	Silent	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:44797689C>G	ENST00000309315.4	+	6	918	c.795C>G	c.(793-795)gtC>gtG	p.V265V	ZMIZ2_ENST00000441627.1_Silent_p.V265V|ZMIZ2_ENST00000265346.7_Silent_p.V265V|ZMIZ2_ENST00000433667.1_Silent_p.V233V|ZMIZ2_ENST00000413916.1_Silent_p.V233V	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	265	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GACAGGGGGTCAAGAGAACCT	0.607																																					NSCLC(20;604 852 1948 16908 50522)	uc003tlr.2		NA																	0				ovary(2)|large_intestine(2)|breast(1)	5						c.(793-795)GTC>GTG		zinc finger, MIZ-type containing 2 isoform 1							53.0	55.0	54.0					7																	44797689		1863	4106	5969	SO:0001819	synonymous_variant	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44797689C>G	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.795C>G	7.37:g.44797689C>G						ZMIZ2_uc003tlq.2_Silent_p.V233V|ZMIZ2_uc003tls.2_Silent_p.V265V|ZMIZ2_uc003tlt.2_5'Flank|ZMIZ2_uc010kyj.2_5'Flank	p.V265V	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN			6	918	+			265			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	ENST00000309315.4	37	c.795C>G	CCDS43576.1																																																																																				0.607	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		14	72	0	0	0	0	14	72				
Unknown	0	broad.mit.edu	37	7	63680527	63680527	+	IGR	SNP	A	A	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:63680527A>G								GUSBP6 (69428 upstream) : ZNF679 (8324 downstream)																							ACTGCTCCTCAACTGTAAAGG	0.383																																						uc011kdn.1		NA																	0					0						c.(1096-1098)TCA>TCG		zinc finger protein 735							86.0	93.0	91.0					7																	63680527		692	1591	2283	SO:0001628	intergenic_variant	730291				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63680527A>G																													7.37:g.63680527A>G							p.S366S	NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN			4	1098	+			366			C2H2-type 8.			Silent	SNP		37	c.1098A>G																																																																																				0	0.383									4	43	0	0	0	0	4	43				
AUTS2	26053	broad.mit.edu	37	7	70255917	70255917	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:70255917C>G	ENST00000342771.4	+	19	4036	c.3715C>G	c.(3715-3717)Cct>Gct	p.P1239A	AUTS2_ENST00000406775.2_Missense_Mutation_p.P1215A	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1239										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AAGGACGACTCCTCTGTCCGC	0.627																																						uc003tvw.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(3715-3717)CCT>GCT		autism susceptibility candidate 2 isoform 1							26.0	28.0	28.0					7																	70255917		2202	4299	6501	SO:0001583	missense	26053							g.chr7:70255917C>G	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3715C>G	7.37:g.70255917C>G	ENSP00000344087:p.Pro1239Ala					AUTS2_uc003tvx.3_Missense_Mutation_p.P1215A|AUTS2_uc011keg.1_Missense_Mutation_p.P691A	p.P1239A	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	19	4458	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	1239					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.3715C>G	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400569	0.83120	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.44482	0.97;0.92	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.61986	0.2391	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.60672	-0.7217	9	.	.	.	-11.7179	18.3394	0.90300	0.0:1.0:0.0:0.0	.	691;1215;1239	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	A	1215;1239	ENSP00000385263:P1215A;ENSP00000344087:P1239A	.	P	+	1	0	AUTS2	69893853	1.000000	0.71417	0.911000	0.35937	0.996000	0.88848	7.357000	0.79456	2.333000	0.79357	0.655000	0.94253	CCT		0.627	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			13	36	0	0	0	0	13	36				
MUC17	140453	broad.mit.edu	37	7	100677537	100677537	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:100677537C>G	ENST00000306151.4	+	3	2904	c.2840C>G	c.(2839-2841)aCt>aGt	p.T947S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	947	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTTTCAGCAACTCCTGTTGAC	0.507																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(2839-2841)ACT>AGT		mucin 17 precursor							337.0	304.0	315.0					7																	100677537		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677537C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2840C>G	7.37:g.100677537C>G	ENSP00000302716:p.Thr947Ser					MUC17_uc010lho.1_RNA	p.T947S	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	2893	+	Lung NSC(181;0.136)|all_lung(186;0.182)		947			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|13.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2840C>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	2.823	-0.244331	0.05906	.	.	ENSG00000169876	ENST00000306151	T	0.02323	4.34	0.942	-0.333	0.12671	.	.	.	.	.	T	0.01730	0.0055	N	0.19112	0.55	0.09310	N	1	B	0.20459	0.045	B	0.08055	0.003	T	0.49062	-0.8978	9	0.08179	T	0.78	.	6.4664	0.21983	0.0:0.6919:0.3081:0.0	.	947	Q685J3	MUC17_HUMAN	S	947	ENSP00000302716:T947S	ENSP00000302716:T947S	T	+	2	0	MUC17	100464257	0.005000	0.15991	0.000000	0.03702	0.038000	0.13279	1.904000	0.39868	-0.070000	0.12908	0.134000	0.15878	ACT		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		177	412	0	0	0	0	177	412				
CTTNBP2	83992	broad.mit.edu	37	7	117501264	117501264	+	Splice_Site	SNP	C	C	T	rs376703729		TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:117501264C>T	ENST00000160373.3	-	2	279	c.188G>A	c.(187-189)cGg>cAg	p.R63Q		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	63					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CGTCCTTACCCGCAGGGCCTC	0.483																																						uc003vjf.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(187-189)CGG>CAG		cortactin binding protein 2							55.0	43.0	47.0					7																	117501264		2203	4300	6503	SO:0001630	splice_region_variant	83992							g.chr7:117501264C>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.189+1G>A	7.37:g.117501264C>T							p.R63Q	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	2	280	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		63					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.188G>A	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795967	0.50208	.	.	ENSG00000077063	ENST00000160373;ENST00000434890;ENST00000454375;ENST00000412853	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.63	5.63	0.86233	Cortactin-binding protein-2, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.48259	0.1490	L	0.55103	1.725	0.52501	D	0.999959	B	0.22683	0.073	B	0.21360	0.034	T	0.43015	-0.9417	10	0.62326	D	0.03	-0.2303	18.8232	0.92106	0.0:1.0:0.0:0.0	.	63	Q8WZ74	CTTB2_HUMAN	Q	63;21;21;21	ENSP00000160373:R63Q;ENSP00000396014:R21Q;ENSP00000405831:R21Q;ENSP00000393373:R21Q	ENSP00000160373:R63Q	R	-	2	0	CTTNBP2	117288500	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	4.121000	0.57904	2.814000	0.96858	0.591000	0.81541	CGG		0.483	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427	Missense_Mutation	7	25	0	0	0	0	7	25				
KCND2	3751	broad.mit.edu	37	7	120386013	120386013	+	Silent	SNP	T	T	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:120386013T>C	ENST00000331113.4	+	5	2612	c.1647T>C	c.(1645-1647)caT>caC	p.H549H	RP4-797C5.2_ENST00000450480.1_RNA	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	549					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CAGGAAGCCATCAAGGTAGTA	0.448																																						uc003vjj.1		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1645-1647)CAT>CAC		potassium voltage-gated channel, Shal-related							131.0	108.0	116.0					7																	120386013		2203	4300	6503	SO:0001819	synonymous_variant	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:120386013T>C	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1647T>C	7.37:g.120386013T>C							p.H549H	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			5	2612	+	all_neural(327;0.117)		549			Cytoplasmic (Potential).		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	c.1647T>C	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	T	8.952	0.968468	0.18659	.	.	ENSG00000184408	ENST00000425288	.	.	.	6.06	1.87	0.25490	.	.	.	.	.	T	0.43188	0.1236	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21518	-1.0243	4	.	.	.	.	1.8523	0.03172	0.1381:0.3793:0.2741:0.2085	.	.	.	.	T	135	.	.	I	+	2	0	KCND2	120173249	0.301000	0.24444	0.998000	0.56505	0.916000	0.54674	0.293000	0.19029	0.044000	0.15775	0.533000	0.62120	ATC		0.448	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		15	104	0	0	0	0	15	104				
FEZF1	389549	broad.mit.edu	37	7	121944307	121944307	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:121944307T>C	ENST00000442488.2	-	1	252	c.185A>G	c.(184-186)aAg>aGg	p.K62R	FEZF1-AS1_ENST00000428449.1_RNA|FEZF1-AS1_ENST00000424404.1_RNA|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.K62R|FEZF1_ENST00000331178.4_Missense_Mutation_p.K62R	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	62					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CAGAGAGTGCTTGGGTTCCCC	0.627																																						uc003vkd.2		NA																	0				ovary(2)|breast(1)	3						c.(184-186)AAG>AGG		FEZ family zinc finger 1 isoform 1							114.0	105.0	108.0					7																	121944307		2203	4300	6503	SO:0001583	missense	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121944307T>C	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.185A>G	7.37:g.121944307T>C	ENSP00000411145:p.Lys62Arg					FEZF1_uc003vkc.2_Missense_Mutation_p.K62R|uc010lko.1_RNA|uc003vkf.1_5'Flank	p.K62R	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN			1	259	-			62					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	c.185A>G	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	T	14.67	2.604604	0.46423	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.10382	2.94;3.06;2.88	4.65	4.65	0.58169	.	0.148640	0.64402	D	0.000011	T	0.13927	0.0337	L	0.57536	1.79	0.35808	D	0.823633	P;P	0.46512	0.808;0.879	B;B	0.40256	0.122;0.324	T	0.20306	-1.0279	10	0.72032	D	0.01	-17.8965	14.5205	0.67847	0.0:0.0:0.0:1.0	.	62;62	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	R	62	ENSP00000411145:K62R;ENSP00000332777:K62R;ENSP00000392727:K62R	ENSP00000332777:K62R	K	-	2	0	FEZF1	121731543	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.827000	0.48112	2.069000	0.61940	0.454000	0.30748	AAG		0.627	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		23	107	0	0	0	0	23	107				
PRSS1	5644	broad.mit.edu	37	7	142459768	142459768	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr7:142459768C>G	ENST00000311737.7	+	3	350	c.344C>G	c.(343-345)tCa>tGa	p.S115*	PRSS1_ENST00000486171.1_Nonsense_Mutation_p.S129*	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	115	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	AAGCTCTCCTCACGTGCAGTA	0.562																																						uc003wak.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(343-345)TCA>TGA		protease, serine, 1 preproprotein							222.0	203.0	209.0					7																	142459768		2203	4300	6503	SO:0001587	stop_gained	5644	Hereditary_Pancreatitis			digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142459768C>G	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.344C>G	7.37:g.142459768C>G	ENSP00000308720:p.Ser115*					uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Nonsense_Mutation_p.S55*	p.S115*	NM_002769	NP_002760	P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		3	361	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	115			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Nonsense_Mutation	SNP	ENST00000311737.7	37	c.344C>G	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	C	8.281	0.815611	0.16607	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243;ENST00000492062	.	.	.	3.28	3.28	0.37604	.	0.533762	0.22191	N	0.063369	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	14.0086	0.64481	0.0:1.0:0.0:0.0	.	.	.	.	X	129;115;105;65	.	ENSP00000308720:S115X	S	+	2	0	PRSS1	142139342	0.000000	0.05858	0.005000	0.12908	0.014000	0.08584	-0.240000	0.08952	1.789000	0.52484	0.398000	0.26397	TCA		0.562	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			28	149	0	0	0	0	28	149				
LYN	4067	broad.mit.edu	37	8	56912010	56912010	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr8:56912010A>G	ENST00000519728.1	+	12	1534	c.1238A>G	c.(1237-1239)gAa>gGa	p.E413G	LYN_ENST00000520220.2_Missense_Mutation_p.E392G	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	413	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	ACGGCTCCAGAAGCAATCAAC	0.393																																						uc003xsk.3		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1237-1239)GAA>GGA		Yamaguchi sarcoma viral (v-yes-1) oncogene							124.0	120.0	121.0					8																	56912010		2203	4300	6503	SO:0001583	missense	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56912010A>G	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.1238A>G	8.37:g.56912010A>G	ENSP00000428924:p.Glu413Gly					LYN_uc003xsl.3_Missense_Mutation_p.E392G	p.E413G	NM_002350	NP_002341	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		12	1520	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	413			Protein kinase.		A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	37	c.1238A>G	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.735329	0.89482	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	T;T	0.38240	1.15;1.15	4.89	4.89	0.63831	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.75961	0.3921	H	0.99347	4.525	0.80722	D	1	P;D	0.76494	0.885;0.999	P;D	0.76575	0.69;0.988	D	0.86728	0.1946	10	0.87932	D	0	.	14.8317	0.70153	1.0:0.0:0.0:0.0	.	483;413	Q6NUK7;P07948	.;LYN_HUMAN	G	413;392	ENSP00000428924:E413G;ENSP00000428424:E392G	ENSP00000428924:E413G	E	+	2	0	LYN	57074564	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.287000	0.95975	1.970000	0.57323	0.482000	0.46254	GAA		0.393	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		11	88	0	0	0	0	11	88				
CDH17	1015	broad.mit.edu	37	8	95182707	95182707	+	Silent	SNP	T	T	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr8:95182707T>C	ENST00000027335.3	-	9	1108	c.984A>G	c.(982-984)gtA>gtG	p.V328V	CDH17_ENST00000450165.2_Silent_p.V328V|CDH17_ENST00000441892.2_Intron	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	328	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTTTAACTTTTACATGAATTT	0.398																																						uc003ygh.2		NA																	0				ovary(5)|skin(1)	6						c.(982-984)GTA>GTG		cadherin 17 precursor							127.0	121.0	123.0					8																	95182707		2203	4300	6503	SO:0001819	synonymous_variant	1015					integral to membrane	calcium ion binding	g.chr8:95182707T>C	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.984A>G	8.37:g.95182707T>C						CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Silent_p.V328V	p.V328V	NM_004063	NP_004054	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		9	1109	-	Breast(36;4.65e-06)		328			Extracellular (Potential).|Cadherin 3.		Q15336|Q2M2E0	Silent	SNP	ENST00000027335.3	37	c.984A>G	CCDS6260.1																																																																																				0.398	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		22	94	0	0	0	0	22	94				
TNFRSF11B	4982	broad.mit.edu	37	8	119936942	119936942	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr8:119936942C>T	ENST00000297350.4	-	5	1255	c.877G>A	c.(877-879)Gag>Aag	p.E293K		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	293	Death 2.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CGAAGCTGCTCGAAGGTGAGG	0.448																																						uc003yon.3		NA																	0				central_nervous_system(2)	2						c.(877-879)GAG>AAG		osteoprotegerin precursor							119.0	96.0	104.0					8																	119936942		2203	4300	6503	SO:0001583	missense	4982				apoptosis|skeletal system development		cytokine activity|receptor activity	g.chr8:119936942C>T	U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"""Tumor necrosis factor receptor superfamily"""	11909	protein-coding gene	gene with protein product		602643	"""osteoprotegerin"""	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.877G>A	8.37:g.119936942C>T	ENSP00000297350:p.Glu293Lys						p.E293K	NM_002546	NP_002537	O00300	TR11B_HUMAN	STAD - Stomach adenocarcinoma(47;0.00193)		5	1200	-	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		293			Death 2.		B2R9A8|O60236|Q53FX6|Q9UHP4	Missense_Mutation	SNP	ENST00000297350.4	37	c.877G>A	CCDS6326.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.335107	0.60853	.	.	ENSG00000164761	ENST00000297350	D	0.84730	-1.89	5.74	3.87	0.44632	Death (1);	1.194240	0.05536	N	0.564833	D	0.85639	0.5743	L	0.54323	1.7	0.43110	D	0.994819	P	0.48503	0.911	B	0.42361	0.385	T	0.75004	-0.3470	9	.	.	.	-23.4496	16.3589	0.83246	0.0:0.7506:0.2494:0.0	.	293	O00300	TR11B_HUMAN	K	293	ENSP00000297350:E293K	.	E	-	1	0	TNFRSF11B	120006123	0.986000	0.35501	0.976000	0.42696	0.953000	0.61014	2.709000	0.47160	0.820000	0.34516	0.563000	0.77884	GAG		0.448	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1			16	111	0	0	0	0	16	111				
HAS2	3037	broad.mit.edu	37	8	122626402	122626402	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr8:122626402T>C	ENST00000303924.4	-	4	2143	c.1606A>G	c.(1606-1608)Aag>Gag	p.K536E		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	536					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CTGCCACACTTATTGATGAGA	0.423																																						uc003yph.2		NA																HAS2/PLAG1(10)	0				soft_tissue(10)|ovary(5)	15						c.(1606-1608)AAG>GAG		hyaluronan synthase 2							199.0	171.0	181.0					8																	122626402		2203	4300	6503	SO:0001583	missense	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122626402T>C	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.1606A>G	8.37:g.122626402T>C	ENSP00000306991:p.Lys536Glu						p.K536E	NM_005328	NP_005319	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		4	2144	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		536			Extracellular (Potential).		Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	c.1606A>G	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.954064	0.34471	.	.	ENSG00000170961	ENST00000303924	T	0.50277	0.75	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.48077	0.1480	L	0.54323	1.7	0.80722	D	1	B	0.25955	0.138	B	0.25987	0.065	T	0.44065	-0.9352	10	0.66056	D	0.02	-22.1511	16.8222	0.85835	0.0:0.0:0.0:1.0	.	536	Q92819	HAS2_HUMAN	E	536	ENSP00000306991:K536E	ENSP00000306991:K536E	K	-	1	0	HAS2	122695583	1.000000	0.71417	0.999000	0.59377	0.692000	0.40212	8.030000	0.88816	2.371000	0.80710	0.533000	0.62120	AAG		0.423	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		62	100	0	0	0	0	62	100				
C8orf76	84933	broad.mit.edu	37	8	124250097	124250097	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr8:124250097C>T	ENST00000276704.4	-	3	349	c.298G>A	c.(298-300)Gct>Act	p.A100T	C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.A68T	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	100										NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AGACACCGAGCCTGACCTTCC	0.428																																						uc003yqc.1		NA																	0				ovary(2)	2						c.(298-300)GCT>ACT		hypothetical protein LOC84933							83.0	74.0	77.0					8																	124250097		2203	4300	6503	SO:0001583	missense	84933						binding	g.chr8:124250097C>T	AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.298G>A	8.37:g.124250097C>T	ENSP00000276704:p.Ala100Thr					C8orf76_uc003yqd.2_Missense_Mutation_p.A68T	p.A100T	NM_032847	NP_116236	Q96K31	CH076_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	329	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		100					Q53HC1	Missense_Mutation	SNP	ENST00000276704.4	37	c.298G>A	CCDS6341.1	.	.	.	.	.	.	.	.	.	.	C	33	5.197188	0.94960	.	.	ENSG00000189376	ENST00000276704;ENST00000357082	D;D	0.83591	-1.74;-1.74	5.71	5.71	0.89125	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.91965	0.7455	M	0.80183	2.485	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92339	0.5880	10	0.87932	D	0	-7.5453	19.8632	0.96793	0.0:1.0:0.0:0.0	.	68;100	Q96EF9;Q96K31	.;CH076_HUMAN	T	100;68	ENSP00000276704:A100T;ENSP00000349593:A68T	ENSP00000276704:A100T	A	-	1	0	C8orf76	124319278	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.404000	0.66344	2.699000	0.92147	0.655000	0.94253	GCT		0.428	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381748.1	NM_032847		40	36	0	0	0	0	40	36				
ATAD2	29028	broad.mit.edu	37	8	124348766	124348766	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr8:124348766C>G	ENST00000287394.5	-	22	3165	c.3058G>C	c.(3058-3060)Gat>Cat	p.D1020H	ATAD2_ENST00000521903.1_Missense_Mutation_p.D338H	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1020	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GTGACATAATCAGGAACCTAA	0.328																																						uc003yqh.3		NA																	0				ovary(2)	2						c.(3058-3060)GAT>CAT		ATPase family, AAA domain containing 2							100.0	94.0	96.0					8																	124348766		2203	4299	6502	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124348766C>G	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.3058G>C	8.37:g.124348766C>G	ENSP00000287394:p.Asp1020His					ATAD2_uc011lii.1_Missense_Mutation_p.D811H|ATAD2_uc003yqi.3_RNA	p.D1020H	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		22	3166	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		1020			Bromo.		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.3058G>C	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931992	0.92389	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	T;T	0.27720	1.65;1.65	5.89	5.89	0.94794	Bromodomain (6);	0.000000	0.85682	D	0.000000	T	0.65964	0.2742	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.71474	-0.4582	10	0.72032	D	0.01	-27.9514	20.2576	0.98430	0.0:1.0:0.0:0.0	.	1020	Q6PL18	ATAD2_HUMAN	H	1020;338	ENSP00000287394:D1020H;ENSP00000429213:D338H	ENSP00000287394:D1020H	D	-	1	0	ATAD2	124417947	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.541000	0.82084	2.783000	0.95769	0.655000	0.94253	GAT		0.328	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		16	158	0	0	0	0	16	158				
ARHGAP39	80728	broad.mit.edu	37	8	145770919	145770919	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr8:145770919C>T	ENST00000276826.5	-	5	2436	c.2235G>A	c.(2233-2235)gaG>gaA	p.E745E	ARHGAP39_ENST00000528810.1_5'UTR|ARHGAP39_ENST00000540274.1_Silent_p.E745E|ARHGAP39_ENST00000377307.2_Silent_p.E745E			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	745	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCTTGAAGAGCTCGCAGGCCT	0.632																																						uc003zdt.1		NA																	0					0						c.(2233-2235)GAG>GAA		KIAA1688 protein							74.0	67.0	69.0					8																	145770919		2203	4300	6503	SO:0001819	synonymous_variant	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145770919C>T		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.2235G>A	8.37:g.145770919C>T						ARHGAP39_uc011llk.1_Silent_p.E745E|ARHGAP39_uc003zds.1_Silent_p.E745E	p.E745E	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN			7	2790	-			745			MyTH4.		B4E1I1	Silent	SNP	ENST00000276826.5	37	c.2235G>A																																																																																					0.632	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			31	51	0	0	0	0	31	51				
FBXO10	26267	broad.mit.edu	37	9	37521758	37521758	+	Silent	SNP	G	G	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr9:37521758G>A	ENST00000432825.2	-	8	2056	c.2008C>T	c.(2008-2010)Ctg>Ttg	p.L670L	FBXO10_ENST00000541829.1_Silent_p.L195L|RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000543968.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	670					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		ACTCCATACAGGCCATTGTAG	0.572																																						uc004aab.2		NA																	0				lung(5)	5						c.(2008-2010)CTG>TTG		F-box protein 10							66.0	69.0	68.0					9																	37521758		2155	4257	6412	SO:0001819	synonymous_variant	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37521758G>A	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.2008C>T	9.37:g.37521758G>A						FBXO10_uc004aac.2_Silent_p.L686L|FBXO10_uc004aad.2_Silent_p.L220L	p.L670L	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	8	2057	-			670			PbH1 12.		Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Silent	SNP	ENST00000432825.2	37	c.2008C>T	CCDS47966.1																																																																																				0.572	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			13	18	0	0	0	0	13	18				
ASTN2	23245	broad.mit.edu	37	9	120176823	120176823	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr9:120176823C>T	ENST00000313400.4	-	1	494	c.394G>A	c.(394-396)Gcg>Acg	p.A132T	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.A132T|ASTN2_ENST00000361209.2_Missense_Mutation_p.A132T			O75129	ASTN2_HUMAN	astrotactin 2	132					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TCCTGCACCGCGATGCGCCCC	0.726																																						uc004bjs.1		NA																	0				skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(394-396)GCG>ACG		astrotactin 2 isoform c							35.0	35.0	35.0					9																	120176823		2203	4299	6502	SO:0001583	missense	23245					integral to membrane		g.chr9:120176823C>T	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.394G>A	9.37:g.120176823C>T	ENSP00000314038:p.Ala132Thr					ASTN2_uc004bjr.1_Missense_Mutation_p.A132T|ASTN2_uc004bjt.1_Missense_Mutation_p.A132T	p.A132T	NM_198187	NP_937830	O75129	ASTN2_HUMAN			1	495	-			132			Extracellular (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.394G>A		.	.	.	.	.	.	.	.	.	.	C	14.42	2.531161	0.45073	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000361209	T;T;T	0.10860	2.87;2.87;2.83	3.13	3.13	0.36017	.	0.406175	0.18974	N	0.126050	T	0.04272	0.0118	N	0.14661	0.345	0.32475	N	0.542292	P;P;P	0.41947	0.593;0.458;0.766	B;B;B	0.28465	0.09;0.042;0.028	T	0.26950	-1.0088	9	.	.	.	-17.8969	7.6695	0.28451	0.2523:0.7477:0.0:0.0	.	132;132;132	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	T	132	ENSP00000314038:A132T;ENSP00000363108:A132T;ENSP00000354504:A132T	.	A	-	1	0	ASTN2	119216644	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	2.237000	0.43061	1.723000	0.51488	0.455000	0.32223	GCG		0.726	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		13	35	0	0	0	0	13	35				
ZBTB43	23099	broad.mit.edu	37	9	129595076	129595076	+	Silent	SNP	C	C	T			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr9:129595076C>T	ENST00000373464.4	+	3	552	c.288C>T	c.(286-288)ccC>ccT	p.P96P	ZBTB43_ENST00000449886.1_Silent_p.P96P|ZBTB43_ENST00000373457.1_Silent_p.P96P	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	96	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TAGTAATGCCCGCTCCAGAAA	0.443																																						uc004bql.2		NA																	0				ovary(1)	1						c.(286-288)CCC>CCT		zinc finger and BTB domain containing 43							79.0	79.0	79.0					9																	129595076		2203	4300	6503	SO:0001819	synonymous_variant	23099				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129595076C>T	AF049907	CCDS6867.1	9q33.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000169155	ENSG00000169155		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	17908	protein-coding gene	gene with protein product			"""zinc finger protein 297B"""	ZNF297B			Standard	NM_014007		Approved	KIAA0414, ZNF-X, FLJ22470, ZBTB22B	uc010mxf.3	O43298	OTTHUMG00000020693	ENST00000373464.4:c.288C>T	9.37:g.129595076C>T						ZBTB43_uc010mxf.2_Silent_p.P96P	p.P96P	NM_014007	NP_054726	O43298	ZBT43_HUMAN			3	561	+			96			BTB.		Q5JU96	Silent	SNP	ENST00000373464.4	37	c.288C>T	CCDS6867.1																																																																																				0.443	ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054124.1	NM_001135776		18	44	0	0	0	0	18	44				
SETX	23064	broad.mit.edu	37	9	135221775	135221775	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr9:135221775T>A	ENST00000224140.5	-	4	443	c.261A>T	c.(259-261)ttA>ttT	p.L87F	SETX_ENST00000372169.2_Missense_Mutation_p.L87F|SETX_ENST00000393220.1_Missense_Mutation_p.L87F	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	87					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTACTATATATAACTCATCAT	0.338																																						uc004cbk.2		NA																	0				ovary(2)|skin(1)	3						c.(259-261)TTA>TTT		senataxin							102.0	98.0	99.0					9																	135221775		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135221775T>A	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.261A>T	9.37:g.135221775T>A	ENSP00000224140:p.Leu87Phe						p.L87F	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	4	444	-		Myeloproliferative disorder(178;0.204)	87					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.261A>T	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	T	16.01	3.002327	0.54254	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.86432	-2.12;-2.12;-2.12	5.58	-1.44	0.08856	.	0.110599	0.36167	N	0.002743	D	0.86213	0.5879	L	0.29908	0.895	0.24714	N	0.993189	D	0.89917	1.0	D	0.79108	0.992	T	0.78513	-0.2175	10	0.87932	D	0	.	8.2935	0.31971	0.0:0.4686:0.1226:0.4089	.	87	Q7Z333	SETX_HUMAN	F	87	ENSP00000224140:L87F;ENSP00000361242:L87F;ENSP00000376913:L87F	ENSP00000224140:L87F	L	-	3	2	SETX	134211596	0.013000	0.17824	0.309000	0.25155	0.650000	0.38633	-1.449000	0.02392	-0.254000	0.09500	0.455000	0.32223	TTA		0.338	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		8	23	0	0	0	0	8	23				
ZCCHC5	203430	broad.mit.edu	37	X	77912862	77912862	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chrX:77912862C>G	ENST00000321110.1	-	2	1351	c.1056G>C	c.(1054-1056)tgG>tgC	p.W352C		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	352							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TGCTTTCATCCCAGTTCAGCT	0.478																																						uc004edc.1		NA																	0				ovary(1)	1						c.(1054-1056)TGG>TGC		zinc finger, CCHC domain containing 5							100.0	83.0	89.0					X																	77912862		2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77912862C>G	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.1056G>C	X.37:g.77912862C>G	ENSP00000316794:p.Trp352Cys						p.W352C	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN			2	1352	-			352					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.1056G>C	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	C	0.356	-0.942068	0.02322	.	.	ENSG00000179300	ENST00000321110	T	0.30182	1.54	3.2	-1.89	0.07689	.	0.486738	0.15007	U	0.285797	T	0.17916	0.0430	L	0.34521	1.04	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.14035	-1.0487	10	0.62326	D	0.03	.	3.5456	0.07827	0.1891:0.309:0.0:0.5019	.	352	Q8N8U3	ZCHC5_HUMAN	C	352	ENSP00000316794:W352C	ENSP00000316794:W352C	W	-	3	0	ZCCHC5	77799518	0.001000	0.12720	0.003000	0.11579	0.379000	0.30106	-0.553000	0.06012	-0.721000	0.04929	0.506000	0.49869	TGG		0.478	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		18	40	0	0	0	0	18	40				
SPANXN2	494119	broad.mit.edu	37	X	142795518	142795518	+	Missense_Mutation	SNP	C	C	A	rs369501075		TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chrX:142795518C>A	ENST00000370498.1	-	2	913	c.160G>T	c.(160-162)Gtg>Ttg	p.V54L		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	54										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TAGTAATACACTATTATTGTT	0.433																																						uc004fbz.2		NA																	0				ovary(1)	1						c.(160-162)GTG>TTG		SPANX-N2 protein							199.0	173.0	182.0					X																	142795518		2203	4300	6503	SO:0001583	missense	494119							g.chrX:142795518C>A		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.160G>T	X.37:g.142795518C>A	ENSP00000359529:p.Val54Leu						p.V54L	NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN			2	914	-	Acute lymphoblastic leukemia(192;6.56e-05)		54					Q0ZNM2	Missense_Mutation	SNP	ENST00000370498.1	37	c.160G>T	CCDS35419.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319906	0.23994	.	.	ENSG00000203924	ENST00000370498	T	0.10573	2.86	0.645	0.645	0.17782	.	.	.	.	.	T	0.18467	0.0443	M	0.72894	2.215	0.09310	N	1	P	0.48503	0.911	P	0.49752	0.621	T	0.09640	-1.0665	8	0.66056	D	0.02	.	.	.	.	.	54	Q5MJ10	SPXN2_HUMAN	L	54	ENSP00000359529:V54L	ENSP00000359529:V54L	V	-	1	0	SPANXN2	142623184	0.000000	0.05858	0.008000	0.14137	0.004000	0.04260	-0.142000	0.10311	0.580000	0.29522	0.292000	0.19580	GTG		0.433	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		52	88	1	0	1.19e-25	2.18e-25	52	88				
KMT2D	8085	broad.mit.edu	37	12	49423208	49423208	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr12:49423208delG	ENST00000301067.7	-	43	14050	c.14051delC	c.(14050-14052)cctfs	p.P4684fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4684					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CTGATTGTGAGGGGGTGTAGG	0.562																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(14050-14052)CCTfs		myeloid/lymphoid or mixed-lineage leukemia 2							35.0	35.0	35.0					12																	49423208		1915	4099	6014	SO:0001589	frameshift_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49423208delG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.14051delC	12.37:g.49423208delG	ENSP00000301067:p.Pro4684fs	HNSCC(34;0.089)					p.P4684fs	NM_003482	NP_003473	O14686	MLL2_HUMAN			43	14051	-			4684					O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.14051delC	CCDS44873.1																																																																																				0.562	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			2	4	NA	NA	NA	NA	2	4	---	---	---	---
TMBIM4	51643	broad.mit.edu	37	12	66531936	66531937	+	Frame_Shift_Ins	INS	-	-	A	rs199863727	byFrequency	TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr12:66531936_66531937insA	ENST00000358230.3	-	7	640_641	c.520_521insT	c.(520-522)tatfs	p.Y174fs	TMBIM4_ENST00000286424.7_Frame_Shift_Ins_p.Y221fs|TMBIM4_ENST00000539652.1_Intron|TMBIM4_ENST00000398033.4_Frame_Shift_Ins_p.I159fs|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000542724.1_Frame_Shift_Ins_p.Y143fs	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	174					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		TATCTCACTATAAAAAAAAAAC	0.351																																						uc001stc.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(520-522)TATfs		transmembrane BAX inhibitor motif containing 4																																				SO:0001589	frameshift_variant	51643					integral to membrane	protein binding	g.chr12:66531936_66531937insA	AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.521dupT	12.37:g.66531946_66531946dupA	ENSP00000350965:p.Tyr174fs					LLPH_uc010ssx.1_Intron|TMBIM4_uc001std.2_Frame_Shift_Ins_p.Y143fs|TMBIM4_uc009zqr.2_Frame_Shift_Ins_p.Y221fs|TMBIM4_uc001ste.2_RNA|TMBIM4_uc001stf.2_Frame_Shift_Ins_p.L162fs|TMBIM4_uc009zqs.2_Frame_Shift_Ins_p.F158fs	p.Y174fs	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN		GBM - Glioblastoma multiforme(28;0.0745)	7	596_597	-			174					Q542Z6|Q9UHY5|Q9Y3C2	Frame_Shift_Ins	INS	ENST00000358230.3	37	c.520_521insT	CCDS41805.1																																																																																				0.351	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401832.2	NM_016056		14	18	NA	NA	NA	NA	14	18	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577120	7577137	+	In_Frame_Del	DEL	CGCACCTCAAAGCTGTTC	CGCACCTCAAAGCTGTTC	-	rs121912657|rs28934576|rs121913343		TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr17:7577120_7577137delCGCACCTCAAAGCTGTTC	ENST00000269305.4	-	8	990_1007	c.801_818delGAACAGCTTTGAGGTGCG	c.(799-819)cggaacagctttgaggtgcgt>cgt	p.267_273RNSFEVR>R	TP53_ENST00000420246.2_In_Frame_Del_p.267_273RNSFEVR>R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_In_Frame_Del_p.267_273RNSFEVR>R|TP53_ENST00000455263.2_In_Frame_Del_p.267_273RNSFEVR>R|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_In_Frame_Del_p.267_273RNSFEVR>R	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	267	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).|N -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> Y (in a sporadic cancer; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599). {ECO:0000269|PubMed:16959974}.|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in a sporadic cancer; somatic mutation).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in a sporadic cancer; somatic mutation).|V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1737852}.|V -> M (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.R273H(521)|p.R273C(481)|p.R273L(93)|p.V272M(82)|p.R273P(32)|p.E271K(28)|p.V272L(26)|p.F270L(24)|p.E271*(18)|p.R273S(16)|p.F270C(15)|p.R273G(9)|p.F270S(8)|p.V272E(8)|p.0?(8)|p.F270V(7)|p.V272A(7)|p.E271V(6)|p.V272G(6)|p.F270Y(5)|p.F270I(5)|p.E271Q(5)|p.V272V(5)|p.S269C(4)|p.S269N(4)|p.R267R(4)|p.V272fs*73(4)|p.R273fs*72(3)|p.N268H(3)|p.?(3)|p.S269G(3)|p.S269S(3)|p.E271G(3)|p.E271D(3)|p.E271fs*74(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.V272>?(2)|p.N268fs*77(2)|p.N268N(2)|p.G262_S269delGNLLGRNS(2)|p.S269_F270>I(2)|p.S269T(2)|p.E271E(2)|p.E271fs*73(1)|p.S269fs*75(1)|p.G266_N268delGRN(1)|p.R273_C275delRVC(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.G262fs*2(1)|p.S269R(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269>XXXXX(1)|p.N268F(1)|p.N268fs*8(1)|p.S269fs*21(1)|p.G266fs*4(1)|p.L265_K305del41(1)|p.N268I(1)|p.S269_F270insX(1)|p.F270_D281del12(1)|p.L265_R267delLGR(1)|p.R267fs*78(1)|p.V272_K292del21(1)|p.S269fs*76(1)|p.S269fs*3(1)|p.V272fs*34(1)|p.E271P(1)|p.E271del(1)|p.N268S(1)|p.V272fs*74(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(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)	GGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTA	0.537	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)|R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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	R273C(SH10TC_STOMACH)|R273H(NCIH1793_LUNG)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273H(NCIH1975_LUNG)|R273C(SW1710_URINARY_TRACT)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RH30_SOFT_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273C(MFE319_ENDOMETRIUM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273H(HT29_LARGE_INTESTINE)|R273C(SJRH30_SOFT_TISSUE)|R273C(EFO27_OVARY)	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		1508	Substitution - Missense(1411)|Deletion - Frameshift(25)|Substitution - Nonsense(18)|Substitution - coding silent(16)|Deletion - In frame(14)|Whole gene deletion(8)|Insertion - Frameshift(7)|Unknown(3)|Complex(2)|Complex - deletion inframe(2)|Complex - insertion inframe(1)|Insertion - In frame(1)	p.R273H(469)|p.R273C(396)|p.R273L(83)|p.V272M(67)|p.R273P(24)|p.V272L(24)|p.F270L(22)|p.E271K(22)|p.R267W(20)|p.F270C(15)|p.E271*(14)|p.R267P(13)|p.R273S(11)|p.R273G(9)|p.F270V(8)|p.V272E(8)|p.F270S(7)|p.R267Q(7)|p.V272A(7)|p.0?(7)|p.E271V(5)|p.R267R(5)|p.F270Y(5)|p.S269C(4)|p.S269N(4)|p.V272G(4)|p.V272fs*73(4)|p.R273fs*72(3)|p.N268H(3)|p.?(3)|p.F270I(3)|p.S269G(3)|p.E271Q(3)|p.S269S(3)|p.V272V(3)|p.E271G(3)|p.E271D(3)|p.G262_F270delGNLLGRNSF(2)|p.R273fs*33(2)|p.G266_E271delGRNSFE(2)|p.N268fs*77(2)|p.N268N(2)|p.G262_S269delGNLLGRNS(2)|p.S269T(2)|p.E271E(2)|p.E271fs*73(1)|p.S269fs*75(1)|p.G266_N268delGRN(1)|p.R273_C275delRVC(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.R267L(1)|p.G262fs*2(1)|p.S269R(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269>XXXXX(1)|p.N268F(1)|p.N268fs*8(1)|p.S269fs*21(1)|p.G266fs*4(1)|p.L265_K305del41(1)|p.N268I(1)|p.S269_F270insX(1)|p.R267G(1)|p.F270_D281del12(1)|p.L265_R267delLGR(1)|p.R267fs*78(1)|p.V272_K292del21(1)|p.S269fs*76(1)|p.S269fs*3(1)|p.V272fs*34(1)|p.E271P(1)|p.E271del(1)|p.N268S(1)|p.V272fs*74(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(1)	large_intestine(280)|central_nervous_system(172)|lung(162)|breast(127)|ovary(115)|upper_aerodigestive_tract(107)|oesophagus(90)|urinary_tract(79)|haematopoietic_and_lymphoid_tissue(77)|stomach(59)|liver(45)|pancreas(40)|endometrium(34)|bone(22)|skin(21)|biliary_tract(17)|cervix(10)|prostate(9)|thyroid(7)|kidney(6)|soft_tissue(5)|penis(5)|vulva(4)|genital_tract(3)|salivary_gland(3)|testis(2)|NS(2)|eye(1)|fallopian_tube(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM004342|CM010471|CM010472|CM010473|CM920676|CM920677|CM942122|CM942136|CM951233	TP53	M	rs121912657|rs121913343|rs28934576	c.(799-819)CGGAACAGCTTTGAGGTGCGT>CGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001651	inframe_deletion	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.chr17:7577120_7577137delCGCACCTCAAAGCTGTTC	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.801_818delGAACAGCTTTGAGGTGCG	17.37:g.7577120_7577137delCGCACCTCAAAGCTGTTC	ENSP00000269305:p.Arg267_Val272del	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_In_Frame_Del_p.267_273RNSFEVR>R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Del_p.135_141RNSFEVR>R|TP53_uc010cng.1_In_Frame_Del_p.135_141RNSFEVR>R|TP53_uc002gii.1_In_Frame_Del_p.135_141RNSFEVR>R|TP53_uc010cnh.1_In_Frame_Del_p.267_273RNSFEVR>R|TP53_uc010cni.1_In_Frame_Del_p.267_273RNSFEVR>R|TP53_uc002gij.2_In_Frame_Del_p.267_273RNSFEVR>R	p.267_273RNSFEVR>R	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	995_1012	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	267_273		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Del	DEL	ENST00000269305.4	37	c.801_818delGAACAGCTTTGAGGTGCG	CCDS11118.1																																																																																				0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		7	33	NA	NA	NA	NA	7	33	---	---	---	---
VAT1	10493	broad.mit.edu	37	17	41174211	41174213	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr17:41174211_41174213delGGC	ENST00000355653.3	-	1	222_224	c.127_129delGCC	c.(127-129)gccdel	p.A43del	VAT1_ENST00000420567.3_5'Flank|VAT1_ENST00000587173.1_In_Frame_Del_p.A43del	NM_006373.3	NP_006364.2	P54219	VMAT1_HUMAN	vesicle amine transport 1	0					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	gtggcggcgaggcggcggcggcg	0.754																																						uc002icm.1		NA																	0					0						c.(127-129)GCCdel		vesicle amine transport protein 1				15,1253		2,11,621						0.0	0.2			3	83,3411		16,51,1680	no	coding	VAT1	NM_006373.3		18,62,2301	A1A1,A1R,RR		2.3755,1.183,2.058				98,4664				SO:0001651	inframe_deletion	10493					cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding	g.chr17:41174211_41174213delGGC	U18009	CCDS11451.1	17q21	2013-08-23	2013-08-23			ENSG00000108828			16919	protein-coding gene	gene with protein product		604631	"""vesicle amine transport protein 1 homolog (T. californica)"""			7774926, 8938427	Standard	NM_006373		Approved	VATI, FLJ20230	uc002icm.1	Q99536		ENST00000355653.3:c.127_129delGCC	17.37:g.41174220_41174222delGGC	ENSP00000347872:p.Ala43del					VAT1_uc010cyw.1_5'Flank|VAT1_uc010whk.1_In_Frame_Del_p.A43del	p.A43del	NM_006373	NP_006364	Q99536	VAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	247_249	-		Breast(137;0.000717)	43					E9PDJ5|Q9BRE4	In_Frame_Del	DEL	ENST00000355653.3	37	c.127_129delGCC	CCDS11451.1																																																																																				0.754	VAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453101.1	NM_006373		2	4	NA	NA	NA	NA	2	4	---	---	---	---
ERN1	2081	broad.mit.edu	37	17	62207374	62207376	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr17:62207374_62207376delGCC	ENST00000433197.3	-	1	109_111	c.14_16delGGC	c.(13-18)cggctg>ctg	p.R5del	ERN1_ENST00000606895.1_In_Frame_Del_p.R5del	NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						agcagcagcagcCGCCGGGCCGG	0.783																																						uc002jdz.2		NA																	0				central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9						c.(13-18)CGGCTG>CTG		endoplasmic reticulum to nucleus signalling 1																																				SO:0001651	inframe_deletion	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62207374_62207376delGCC	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.14_16delGGC	17.37:g.62207377_62207379delGCC	ENSP00000401445:p.Arg5del						p.R5del	NM_001433	NP_001424	O75460	ERN1_HUMAN			1	127_129	-			5						In_Frame_Del	DEL	ENST00000433197.3	37	c.14_16delGGC	CCDS45762.1																																																																																				0.783	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		2	4	NA	NA	NA	NA	2	4	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971132	21971133	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chr9:21971132_21971133insG	ENST00000304494.5	-	2	495_496	c.225_226insC	c.(223-228)cccgccfs	p.A76fs	CDKN2A_ENST00000579755.1_Frame_Shift_Ins_p.R90fs|CDKN2A_ENST00000361570.3_Frame_Shift_Ins_p.R131fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.A76fs|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.A25fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.A76fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.A25fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.A76fs|CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.A25fs|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.A25fs|CDKN2A_ENST00000530628.2_Frame_Shift_Ins_p.R90fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.A25fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	76					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.A76fs*70(2)|p.L65fs*38(1)|p.0(1)|p.A76fs*64(1)|p.R131fs*44(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.A76T(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GTGAGAGTGGCGGGGTCGGCGC	0.708		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1368	Whole gene deletion(1316)|Unknown(44)|Deletion - Frameshift(6)|Substitution - Missense(1)|Deletion - In frame(1)	p.0?(1112)|p.?(13)|p.P75L(2)|p.A76fs*70(2)|p.P75H(1)|p.E61_L94del(1)|p.A76fs*64(1)|p.L65fs*38(1)|p.A68fs*3(1)|p.P75fs*71(1)|p.A76T(1)|p.P75S(1)	haematopoietic_and_lymphoid_tissue(283)|skin(174)|central_nervous_system(167)|lung(145)|urinary_tract(91)|bone(75)|soft_tissue(57)|oesophagus(56)|pleura(51)|upper_aerodigestive_tract(49)|ovary(36)|breast(33)|kidney(32)|pancreas(30)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678						c.(223-228)CCCGCCfs		cyclin-dependent kinase inhibitor 2A isoform 1																																				SO:0001589	frameshift_variant	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971132_21971133insG	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.226dupC	9.37:g.21971136_21971136dupG	ENSP00000307101:p.Ala76fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Frame_Shift_Ins_p.R131fs	p.P75fs	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	437_438	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	75_76					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Ins	INS	ENST00000304494.5	37	c.225_226insC	CCDS6510.1																																																																																				0.708	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		13	20	NA	NA	NA	NA	13	20	---	---	---	---
FRMD7	90167	broad.mit.edu	37	X	131212552	131212553	+	Frame_Shift_Ins	INS	-	-	A	rs200838126		TCGA-CV-7178-01A-21D-2012-08	TCGA-CV-7178-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3f30774f-2b8c-4057-abd1-a9dd1e49ec78	2c4a9e5c-8325-492c-98f2-e9ed96514b8c	g.chrX:131212552_131212553insA	ENST00000298542.4	-	12	1667_1668	c.1492_1493insT	c.(1492-1494)tatfs	p.Y498fs	FRMD7_ENST00000370879.1_Frame_Shift_Ins_p.Y378fs|FRMD7_ENST00000464296.1_Frame_Shift_Ins_p.Y483fs	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	498					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CTTGTCCACATAAAAAAAGACC	0.5																																						uc004ewn.2		NA																	0				skin(1)	1						c.(1492-1494)TATfs		FERM domain containing 7																																				SO:0001589	frameshift_variant	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131212552_131212553insA	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1493dupT	X.37:g.131212559_131212559dupA	ENSP00000298542:p.Tyr498fs					FRMD7_uc011muy.1_Frame_Shift_Ins_p.Y483fs	p.Y498fs	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN			12	1670_1671	-	Acute lymphoblastic leukemia(192;0.000127)		498					C0LLJ3|Q5JX99	Frame_Shift_Ins	INS	ENST00000298542.4	37	c.1492_1493insT	CCDS35397.1																																																																																				0.500	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		32	148	NA	NA	NA	NA	32	148	---	---	---	---
