#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_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NECAP2	55707	broad.mit.edu	37	1	16778419	16778419	+	Silent	SNP	A	A	T	rs397860948		TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:16778419A>T	ENST00000337132.5	+	6	666	c.576A>T	c.(574-576)ccA>ccT	p.P192P	NECAP2_ENST00000504551.2_Silent_p.P131P|NECAP2_ENST00000406746.1_Silent_p.P192P|NECAP2_ENST00000457722.2_Silent_p.P166P|NECAP2_ENST00000443980.2_Silent_p.P192P	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	192				P -> S (in Ref. 2; BAG63581). {ECO:0000305}.	endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCTCCCCCAGGGGGGAAAA	0.622																																							uc001ayo.2		NA																	0					0						c.(574-576)CCA>CCT		NECAP endocytosis associated 2 isoform 1							51.0	59.0	56.0					1																	16778419		2203	4300	6503	SO:0001819	synonymous_variant	55707				endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane		g.chr1:16778419A>T	AK021938	CCDS173.1, CCDS44066.1, CCDS44067.1	1p36.13	2008-02-05			ENSG00000157191	ENSG00000157191			25528	protein-coding gene	gene with protein product		611624				14555962, 15494011	Standard	NM_001145277		Approved	FLJ10420	uc001ayq.3	Q9NVZ3	OTTHUMG00000002313	ENST00000337132.5:c.576A>T	1.37:g.16778419A>T						NECAP2_uc001ayp.3_RNA|NECAP2_uc010ocd.1_Silent_p.P166P|NECAP2_uc001ayq.2_Silent_p.P192P	p.P192P	NM_018090	NP_060560	Q9NVZ3	NECP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	6	666	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	192	P -> S (in Ref. 2; BAG63581).				B4DY19|E9PGQ8|Q5VSU4|Q5VSU5|Q9H7L1|Q9H8L1	Silent	SNP	ENST00000337132.5	37	c.576A>T	CCDS173.1																																																																																				0.622	NECAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006680.2	NM_018090		30	68	0	0	0	0.007291	0	30	68				
CRYZ	1429	broad.mit.edu	37	1	75175927	75175927	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:75175927C>T	ENST00000340866.5	-	6	572	c.485G>A	c.(484-486)gGa>gAa	p.G162E	CRYZ_ENST00000492102.1_5'Flank|CRYZ_ENST00000370871.3_Missense_Mutation_p.G162E|CRYZ_ENST00000370872.3_Missense_Mutation_p.G25E|CRYZ_ENST00000417775.1_Missense_Mutation_p.G162E	NM_001889.3	NP_001880.2	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	162					protein homotetramerization (GO:0051289)|visual perception (GO:0007601)|xenobiotic catabolic process (GO:0042178)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	mRNA 3'-UTR binding (GO:0003730)|NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicoumarol(DB00266)	TGCTGCTAATCCAACCTGAAA	0.378																																							uc001dgk.2		NA																	0					0						c.(484-486)GGA>GAA		crystallin, zeta isoform a	Dicumarol(DB00266)						62.0	62.0	62.0					1																	75175927		2202	4300	6502	SO:0001583	missense	1429				protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding	g.chr1:75175927C>T		CCDS665.1, CCDS44162.1, CCDS44163.1	1p31.1	2013-02-14			ENSG00000116791	ENSG00000116791			2419	protein-coding gene	gene with protein product		123691					Standard	NM_001889		Approved		uc001dgj.3	Q08257	OTTHUMG00000009620	ENST00000340866.5:c.485G>A	1.37:g.75175927C>T	ENSP00000339399:p.Gly162Glu					CRYZ_uc001dgj.2_Missense_Mutation_p.G162E|CRYZ_uc001dgl.2_Missense_Mutation_p.G162E|CRYZ_uc001dgm.2_Missense_Mutation_p.G25E	p.G162E	NM_001130042	NP_001123514	Q08257	QOR_HUMAN			7	990	-			162					A6NN60|D3DQ76|Q53FT0|Q59EU7|Q5HYE7|Q6NSK9	Missense_Mutation	SNP	ENST00000340866.5	37	c.485G>A	CCDS665.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297619	0.60086	.	.	ENSG00000116791	ENST00000340866;ENST00000370872;ENST00000417775;ENST00000370871;ENST00000370870;ENST00000441120	D;D;D;D;T;T	0.83163	-1.69;-1.69;-1.69;-1.69;-1.37;-1.37	5.43	5.43	0.79202	Alcohol dehydrogenase, C-terminal (1);Quinone oxidoreductase/zeta-crystallin, conserved site (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94709	0.8293	H	0.97852	4.09	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.96242	0.9176	10	0.87932	D	0	.	19.1864	0.93645	0.0:1.0:0.0:0.0	.	25;162;162	Q5HYE7;A6NN60;Q08257	.;.;QOR_HUMAN	E	162;25;162;162;162;162	ENSP00000339399:G162E;ENSP00000359909:G25E;ENSP00000399805:G162E;ENSP00000359908:G162E;ENSP00000359907:G162E;ENSP00000404289:G162E	ENSP00000339399:G162E	G	-	2	0	CRYZ	74948515	1.000000	0.71417	0.998000	0.56505	0.628000	0.37860	6.790000	0.75115	2.688000	0.91661	0.563000	0.77884	GGA		0.378	CRYZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026514.1			20	41	0	0	0	0.008871	0	20	41				
AK5	26289	broad.mit.edu	37	1	77759485	77759485	+	Silent	SNP	T	T	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:77759485T>A	ENST00000354567.2	+	3	518	c.255T>A	c.(253-255)ccT>ccA	p.P85P	AK5_ENST00000317704.4_Intron|AK5_ENST00000344720.5_Silent_p.P59P	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	85					ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						CAGTAATGCCTGAAAACTCAA	0.368																																							uc001dhn.2		NA																	0				skin(1)	1						c.(253-255)CCT>CCA		adenylate kinase 5 isoform 1							64.0	66.0	65.0					1																	77759485		2203	4300	6503	SO:0001819	synonymous_variant	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77759485T>A	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.255T>A	1.37:g.77759485T>A						AK5_uc001dho.2_Silent_p.P59P|AK5_uc001dhm.1_Intron	p.P85P	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN			3	512	+			85					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Silent	SNP	ENST00000354567.2	37	c.255T>A	CCDS675.1																																																																																				0.368	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		22	40	0	0	0	0.001882	0	22	40				
PLPPR5	163404	broad.mit.edu	37	1	99387536	99387536	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:99387536C>G	ENST00000263177.4	-	4	921	c.700G>C	c.(700-702)Gca>Cca	p.A234P	LPPR5_ENST00000370188.3_Missense_Mutation_p.A234P	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		234						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										GTAAGAAATGCCAAACACATT	0.383																																							uc001dsb.2		NA																	0					0						c.(700-702)GCA>CCA		phosphatidic acid phosphatase type 2d isoform 1							137.0	130.0	132.0					1																	99387536		2203	4300	6503	SO:0001583	missense	163404					integral to membrane	hydrolase activity	g.chr1:99387536C>G																												ENST00000263177.4:c.700G>C	1.37:g.99387536C>G	ENSP00000263177:p.Ala234Pro					LPPR5_uc001dsc.2_Missense_Mutation_p.A234P	p.A234P	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN			4	922	-			234			Helical; (Potential).		A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	37	c.700G>C	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904569	0.92035	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	D;D	0.83075	-1.68;-1.68	5.4	5.4	0.78164	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.104643	0.64402	D	0.000004	D	0.91314	0.7261	M	0.89414	3.03	0.80722	D	1	D;D	0.65815	0.994;0.995	D;D	0.66602	0.909;0.945	D	0.92639	0.6123	10	0.87932	D	0	.	18.1643	0.89719	0.0:1.0:0.0:0.0	.	234;234	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	P	234	ENSP00000359207:A234P;ENSP00000263177:A234P	ENSP00000263177:A234P	A	-	1	0	AL161744.1	99160124	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.528000	0.85240	0.460000	0.39030	GCA		0.383	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			19	54	0	0	0	0.007413	0	19	54				
COL11A1	1301	broad.mit.edu	37	1	103412505	103412505	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:103412505G>T	ENST00000370096.3	-	42	3488	c.3176C>A	c.(3175-3177)cCa>cAa	p.P1059Q	COL11A1_ENST00000353414.4_Missense_Mutation_p.P1020Q|COL11A1_ENST00000512756.1_Missense_Mutation_p.P943Q|COL11A1_ENST00000358392.2_Missense_Mutation_p.P1071Q	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1059	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACGTTCTCCTGGTGAGCCCTA	0.463																																							uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(3175-3177)CCA>CAA		alpha 1 type XI collagen isoform A							31.0	30.0	30.0					1																	103412505		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103412505G>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3176C>A	1.37:g.103412505G>T	ENSP00000359114:p.Pro1059Gln					COL11A1_uc001duk.2_Missense_Mutation_p.P255Q|COL11A1_uc001dum.2_Missense_Mutation_p.P1071Q|COL11A1_uc001dun.2_Missense_Mutation_p.P1020Q|COL11A1_uc009weh.2_Missense_Mutation_p.P943Q	p.P1059Q	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	42	3494	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1059			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3176C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506832	0.64410	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.96913	-3.85;-3.85;-4.17;-3.85	5.51	5.51	0.81932	.	0.057906	0.64402	D	0.000001	D	0.95535	0.8549	N	0.21373	0.66	0.80722	D	1	D;D;D;D;P	0.67145	0.977;0.971;0.996;0.993;0.9	P;P;D;P;P	0.65010	0.867;0.839;0.931;0.77;0.718	D	0.95641	0.8698	10	0.45353	T	0.12	.	19.0317	0.92960	0.0:0.0:1.0:0.0	.	943;1020;1071;1059;279	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	Q	1059;1071;1020;279;943	ENSP00000359114:P1059Q;ENSP00000351163:P1071Q;ENSP00000302551:P1020Q;ENSP00000426533:P943Q	ENSP00000302551:P1020Q	P	-	2	0	COL11A1	103185093	1.000000	0.71417	0.999000	0.59377	0.812000	0.45895	9.741000	0.98843	2.580000	0.87095	0.650000	0.86243	CCA		0.463	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		10	15	1	0	4.68919e-08	0.008291	5.48014e-08	10	15				
KCND3	3752	broad.mit.edu	37	1	112524989	112524989	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:112524989G>C	ENST00000315987.2	-	2	839	c.360C>G	c.(358-360)ttC>ttG	p.F120L	KCND3_ENST00000302127.4_Missense_Mutation_p.F120L|KCND3_ENST00000369697.1_Missense_Mutation_p.F120L	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	120					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GGATGCCGTAGAAGGCCAGCT	0.627																																							uc001ebu.1		NA																	0				ovary(2)|large_intestine(1)	3						c.(358-360)TTC>TTG		potassium voltage-gated channel, Shal-related							87.0	78.0	81.0					1																	112524989		2203	4300	6503	SO:0001583	missense	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112524989G>C	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.360C>G	1.37:g.112524989G>C	ENSP00000319591:p.Phe120Leu					KCND3_uc001ebv.1_Missense_Mutation_p.F120L	p.F120L	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	2	840	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	120			Cytoplasmic (Potential).		O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	c.360C>G	CCDS843.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725656	0.68959	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.82893	-1.66;-1.66;-1.66	5.61	5.61	0.85477	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.93625	0.7964	H	0.98199	4.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.95050	0.8186	10	0.87932	D	0	.	12.5824	0.56397	0.0767:0.0:0.9233:0.0	.	120;120	Q14D71;Q9UK17	.;KCND3_HUMAN	L	120	ENSP00000358711:F120L;ENSP00000319591:F120L;ENSP00000306923:F120L	ENSP00000306923:F120L	F	-	3	2	KCND3	112326512	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.784000	0.68990	2.648000	0.89879	0.563000	0.77884	TTC		0.627	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		19	43	0	0	0	0.007413	0	19	43				
HSD3BP2	440606	broad.mit.edu	37	1	119985577	119985577	+	IGR	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:119985577G>A								HSD3B2 (19919 upstream) : HSD3B1 (64248 downstream)																							GAGCCTGCCAGGACGTGTCGG	0.498																																							uc001ehu.2		NA																	0				ovary(2)	2						c.(382-384)CAG>CAA		RecName: Full=3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2; AltName: Full=3-beta-HSD II; Includes:   RecName: Full=3-beta-hydroxy-Delta(5)-steroid dehydrogenase;            EC=1.1.1.145;   AltName: Full=3-beta-hydroxy-5-ene steroid dehydrogenase;   AltName: Full=Progesterone reductase; Includes:   RecName: Full=Steroid Delta-isomerase;            EC=5.3.3.1;   AltName: Full=Delta-5-3-ketosteroid isomerase;	NADH(DB00157)|Trilostane(DB01108)																																			SO:0001628	intergenic_variant	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119985577G>A																													1.37:g.119985577G>A							p.Q128Q			P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	4	526	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	Error:Variant_position_missing_in_P26439_after_alignment						Silent	SNP		37	c.384G>A																																																																																				0	0.498									16	31	0	0	0	0.004007	0	16	31				
REG4	83998	broad.mit.edu	37	1	120351358	120351358	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:120351358A>T	ENST00000354219.1	-	3	474	c.35T>A	c.(34-36)cTg>cAg	p.L12Q	REG4_ENST00000369401.4_Missense_Mutation_p.L12Q|REG4_ENST00000256585.5_Missense_Mutation_p.L12Q|REG4_ENST00000530654.1_Missense_Mutation_p.L12Q	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	12						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|mannan binding (GO:2001065)			central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		CAGGCAGCTCAGCAATAGGAG	0.532											OREG0013729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001eig.2		NA																	0				ovary(1)	1						c.(34-36)CTG>CAG		regenerating islet-derived family, member 4							93.0	70.0	78.0					1																	120351358		2203	4300	6503	SO:0001583	missense	83998					extracellular region	sugar binding	g.chr1:120351358A>T	AY007243	CCDS906.1, CCDS53354.1	1p13.1-p12	2008-02-05			ENSG00000134193	ENSG00000134193			22977	protein-coding gene	gene with protein product	"""regenerating gene type IV"", "" gastrointestinal secretory protein"""	609846				11311942, 12455032	Standard	NM_032044		Approved	REG-IV, RELP, GISP	uc001eif.3	Q9BYZ8	OTTHUMG00000012175	ENST00000354219.1:c.35T>A	1.37:g.120351358A>T	ENSP00000346158:p.Leu12Gln		OREG0013729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1503	REG4_uc001eif.2_Missense_Mutation_p.L12Q|REG4_uc001eih.1_Missense_Mutation_p.L12Q	p.L12Q	NM_001159352	NP_001152824	Q9BYZ8	REG4_HUMAN		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)	3	475	-	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)	12					Q8NER6|Q8NER7	Missense_Mutation	SNP	ENST00000354219.1	37	c.35T>A	CCDS906.1	.	.	.	.	.	.	.	.	.	.	A	14.32	2.500244	0.44455	.	.	ENSG00000134193	ENST00000354219;ENST00000256585;ENST00000369402;ENST00000530654;ENST00000369401	T;T;T;T	0.18810	4.46;4.46;2.19;2.19	4.8	4.8	0.61643	.	0.135128	0.32719	N	0.005731	T	0.26593	0.0650	L	0.60455	1.87	0.29786	N	0.833608	D;D	0.76494	0.999;0.991	D;P	0.66847	0.947;0.767	T	0.03875	-1.0996	10	0.59425	D	0.04	-2.6513	10.9526	0.47339	1.0:0.0:0.0:0.0	.	12;12	Q9BYZ8-2;Q9BYZ8	.;REG4_HUMAN	Q	12	ENSP00000346158:L12Q;ENSP00000256585:L12Q;ENSP00000437135:L12Q;ENSP00000358409:L12Q	ENSP00000256585:L12Q	L	-	2	0	REG4	120152881	1.000000	0.71417	0.379000	0.26080	0.001000	0.01503	3.610000	0.54125	2.154000	0.67381	0.529000	0.55759	CTG		0.532	REG4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033675.1	NM_032044		16	36	0	0	0	0.004007	0	16	36				
HCN3	57657	broad.mit.edu	37	1	155258202	155258202	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:155258202C>T	ENST00000368358.3	+	8	2281	c.2273C>T	c.(2272-2274)cCa>cTa	p.P758L	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	758	Pro-rich.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCCAGGCCACCAGTGCCTGAG	0.602																																							uc001fjz.1		NA																	0				ovary(1)|breast(1)	2						c.(2272-2274)CCA>CTA		hyperpolarization activated cyclic							38.0	50.0	46.0					1																	155258202		2202	4298	6500	SO:0001583	missense	57657					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr1:155258202C>T	AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.2273C>T	1.37:g.155258202C>T	ENSP00000357342:p.Pro758Leu					RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Missense_Mutation_p.P453L	p.P758L	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		8	2281	+	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		758			Cytoplasmic (Potential).|Pro-rich.		D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	ENST00000368358.3	37	c.2273C>T	CCDS1108.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.976042	0.53720	.	.	ENSG00000143630	ENST00000368358	D	0.98090	-4.71	4.56	4.56	0.56223	.	0.153716	0.30565	N	0.009342	D	0.89185	0.6643	N	0.08118	0	0.42217	D	0.991838	P;B	0.52061	0.95;0.345	B;B	0.36534	0.199;0.227	D	0.92366	0.5901	10	0.87932	D	0	.	13.0053	0.58701	0.0:1.0:0.0:0.0	.	453;758	B7Z5R8;Q9P1Z3	.;HCN3_HUMAN	L	758	ENSP00000357342:P758L	ENSP00000357342:P758L	P	+	2	0	HCN3	153524826	0.231000	0.23751	1.000000	0.80357	0.985000	0.73830	3.248000	0.51430	2.533000	0.85409	0.455000	0.32223	CCA		0.602	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897		27	108	0	0	0	0.004656	0	27	108				
LHX4	89884	broad.mit.edu	37	1	180235559	180235559	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:180235559A>T	ENST00000263726.2	+	3	525	c.281A>T	c.(280-282)cAg>cTg	p.Q94L		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	94	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GCCTGCCAGCAGGGTATCCCC	0.617																																							uc001goe.1		NA																	0				ovary(1)	1						c.(280-282)CAG>CTG		LIM homeobox protein 4							64.0	65.0	64.0					1																	180235559		2203	4300	6503	SO:0001583	missense	89884					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:180235559A>T	AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"""Homeoboxes / LIM class"""	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.281A>T	1.37:g.180235559A>T	ENSP00000263726:p.Gln94Leu						p.Q94L	NM_033343	NP_203129	Q969G2	LHX4_HUMAN			3	504	+			94			LIM zinc-binding 2.		Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Missense_Mutation	SNP	ENST00000263726.2	37	c.281A>T	CCDS1338.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.943034	0.53079	.	.	ENSG00000121454	ENST00000263726	D	0.87887	-2.31	5.4	5.4	0.78164	Zinc finger, LIM-type (5);	0.058361	0.64402	D	0.000001	T	0.78880	0.4353	N	0.21240	0.645	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.73151	-0.4073	10	0.22109	T	0.4	.	14.407	0.67088	1.0:0.0:0.0:0.0	.	94	Q969G2	LHX4_HUMAN	L	94	ENSP00000263726:Q94L	ENSP00000263726:Q94L	Q	+	2	0	LHX4	178502182	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.210000	0.95106	2.052000	0.61016	0.533000	0.62120	CAG		0.617	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084995.2	NM_033343		5	122	0	0	0	0.000602	0	5	122				
PTGS2	5743	broad.mit.edu	37	1	186645094	186645094	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:186645094G>A	ENST00000367468.5	-	8	1329	c.1193C>T	c.(1192-1194)tCt>tTt	p.S398F	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	398					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	CAGCAATATAGAGTTGTTGTA	0.383																																							uc001gsb.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1192-1194)TCT>TTT		prostaglandin-endoperoxide synthase 2 precursor	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						141.0	137.0	139.0					1																	186645094		2203	4300	6503	SO:0001583	missense	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186645094G>A	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.1193C>T	1.37:g.186645094G>A	ENSP00000356438:p.Ser398Phe					PTGS2_uc009wyo.2_Missense_Mutation_p.S245F	p.S398F	NM_000963	NP_000954	P35354	PGH2_HUMAN			8	1330	-			398					A8K802|Q16876	Missense_Mutation	SNP	ENST00000367468.5	37	c.1193C>T	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780431	0.70222	.	.	ENSG00000073756	ENST00000367468	T	0.70164	-0.46	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.75810	0.3900	M	0.90595	3.13	0.80722	D	1	B	0.24675	0.109	B	0.24006	0.05	T	0.75795	-0.3192	10	0.62326	D	0.03	-30.3957	19.9823	0.97331	0.0:0.0:1.0:0.0	.	398	P35354	PGH2_HUMAN	F	398	ENSP00000356438:S398F	ENSP00000356438:S398F	S	-	2	0	PTGS2	184911717	1.000000	0.71417	0.956000	0.39512	0.872000	0.50106	9.567000	0.98161	2.788000	0.95919	0.650000	0.86243	TCT		0.383	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		7	134	0	0	0	0.001984	0	7	134				
ASPM	259266	broad.mit.edu	37	1	197069621	197069621	+	Silent	SNP	A	A	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:197069621A>G	ENST00000367409.4	-	18	9016	c.8760T>C	c.(8758-8760)agT>agC	p.S2920S	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2920	IQ 33. {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						TAAATCCTTTACTTCTAGCTT	0.289																																							uc001gtu.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(8758-8760)AGT>AGC		asp (abnormal spindle)-like, microcephaly							53.0	55.0	54.0					1																	197069621		2203	4296	6499	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197069621A>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.8760T>C	1.37:g.197069621A>G						ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Silent_p.S768S	p.S2920S	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	9017	-			2920			IQ 33.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.8760T>C	CCDS1389.1																																																																																				0.289	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		19	49	0	0	0	0.006122	0	19	49				
CYB5R1	51706	broad.mit.edu	37	1	202931772	202931772	+	Silent	SNP	G	G	A	rs370774212		TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:202931772G>A	ENST00000367249.4	-	9	875	c.801C>T	c.(799-801)ccC>ccT	p.P267P	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	267					sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	CCCCTGGAGCGGGCAGGTGTT	0.537																																							uc001gyt.2		NA																	0				ovary(1)	1						c.(799-801)CCC>CCT		cytochrome b5 reductase 1		A		0,4406		0,0,2203	106.0	93.0	98.0		801	-7.4	0.7	1		98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CYB5R1	NM_016243.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		267/306	202931772	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51706				sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity	g.chr1:202931772G>A	AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"""NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"""	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.801C>T	1.37:g.202931772G>A							p.P267P	NM_016243	NP_057327	Q9UHQ9	NB5R1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		9	872	-			267					A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Silent	SNP	ENST00000367249.4	37	c.801C>T	CCDS1431.1																																																																																				0.537	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099155.1	NM_016243		4	87	0	0	0	0.009096	0	4	87				
CR1	1378	broad.mit.edu	37	1	207782718	207782718	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:207782718G>T	ENST00000367049.4	+	37	5980	c.5980G>T	c.(5980-5982)Gta>Tta	p.V1994L	RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.V1544L|CR1_ENST00000367051.1_Missense_Mutation_p.V1544L|CR1_ENST00000400960.2_Missense_Mutation_p.V1544L|CR1_ENST00000367052.1_Missense_Mutation_p.V1544L	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1544					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGGAACGGTGGTAACTTACCA	0.448																																							uc001hfy.2		NA																	0				ovary(3)	3						c.(4630-4632)GTA>TTA		complement receptor 1 isoform F precursor							117.0	115.0	116.0					1																	207782718		1994	4157	6151	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207782718G>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.5980G>T	1.37:g.207782718G>T	ENSP00000356016:p.Val1994Leu					CR1_uc009xcl.1_Missense_Mutation_p.V1094L|CR1_uc001hfx.2_Missense_Mutation_p.V1994L	p.V1544L	NM_000573	NP_000564	P17927	CR1_HUMAN			29	4770	+			1544			Extracellular (Potential).|Sushi 24.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.4630G>T	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894308	0.52121	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	2.66	2.66	0.31614	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.80849	0.4702	M	0.85462	2.755	0.09310	N	1	D;D;D	0.76494	0.999;0.985;0.967	D;D;P	0.76575	0.988;0.982;0.815	T	0.66878	-0.5812	9	0.54805	T	0.06	.	8.9719	0.35912	0.0:0.0:1.0:0.0	.	1544;1544;1994	Q5SR44;P17927;E9PDY4	.;CR1_HUMAN;.	L	1544;1544;1544;1544;1094;1994	ENSP00000356019:V1544L;ENSP00000356018:V1544L;ENSP00000356020:V1544L;ENSP00000383744:V1544L;ENSP00000436139:V1094L;ENSP00000356016:V1994L	ENSP00000356016:V1994L	V	+	1	0	CR1	205849341	0.872000	0.30054	0.074000	0.20217	0.086000	0.17979	3.873000	0.56093	1.789000	0.52484	0.555000	0.69702	GTA		0.448	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		24	77	1	0	1.64293e-13	0.00333	2.0969e-13	24	77				
USH2A	7399	broad.mit.edu	37	1	215824106	215824106	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:215824106C>G	ENST00000307340.3	-	65	14557	c.14171G>C	c.(14170-14172)aGc>aCc	p.S4724T	USH2A_ENST00000366943.2_Missense_Mutation_p.S4724T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4724	Fibronectin type-III 32. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCATGTCCAGCTACTGGGGGC	0.512										HNSCC(13;0.011)																													uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(14170-14172)AGC>ACC		usherin isoform B							84.0	87.0	86.0					1																	215824106		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215824106C>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14171G>C	1.37:g.215824106C>G	ENSP00000305941:p.Ser4724Thr	HNSCC(13;0.011)					p.S4724T	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	65	14558	-			4724			Fibronectin type-III 32.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.14171G>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	2.892	-0.229390	0.06022	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.69926	-0.44;-0.44	5.73	-4.54	0.03452	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.764497	0.11410	N	0.566870	T	0.36991	0.0987	N	0.14661	0.345	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.26677	-1.0096	10	0.12430	T	0.62	.	4.0159	0.09644	0.1097:0.2516:0.1077:0.5309	.	4724	O75445	USH2A_HUMAN	T	4724	ENSP00000305941:S4724T;ENSP00000355910:S4724T	ENSP00000305941:S4724T	S	-	2	0	USH2A	213890729	0.004000	0.15560	0.477000	0.27303	0.343000	0.28985	-0.179000	0.09768	-1.041000	0.03266	-0.142000	0.14014	AGC		0.512	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		56	127	0	0	0	0.00361	0	56	127				
LYST	1130	broad.mit.edu	37	1	235937220	235937220	+	Silent	SNP	T	T	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:235937220T>C	ENST00000389794.3	-	19	5880	c.5706A>G	c.(5704-5706)gtA>gtG	p.V1902V	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Silent_p.V1902V			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1902					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CATTAGAGTCTACATCCAACT	0.328																																							uc001hxj.2		NA																	0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(5704-5706)GTA>GTG		lysosomal trafficking regulator							113.0	110.0	111.0					1																	235937220		2202	4299	6501	SO:0001819	synonymous_variant	1130	Chediak-Higashsyndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235937220T>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.5706A>G	1.37:g.235937220T>C						LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	p.V1902V	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		19	5881	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1902					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.5706A>G	CCDS31062.1																																																																																				0.328	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			33	79	0	0	0	0.003271	0	33	79				
OR2L8	391190	broad.mit.edu	37	1	248112914	248112914	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:248112914C>A	ENST00000357191.3	+	1	755	c.755C>A	c.(754-756)gCa>gAa	p.A252E	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TTCTACTATGCACCTTTTGTC	0.478																																							uc001idt.1		NA																	0				ovary(1)|skin(1)	2						c.(754-756)GCA>GAA		olfactory receptor, family 2, subfamily L,							143.0	103.0	116.0					1																	248112914		2203	4298	6501	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112914C>A	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.755C>A	1.37:g.248112914C>A	ENSP00000349719:p.Ala252Glu					OR2L13_uc001ids.2_Intron	p.A252E	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	755	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		252			Helical; Name=6; (Potential).		Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.755C>A	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	6.378	0.437845	0.12104	.	.	ENSG00000196936	ENST00000357191	T	0.38887	1.11	1.8	-0.381	0.12485	GPCR, rhodopsin-like superfamily (1);	0.590255	0.12675	U	0.448469	T	0.44265	0.1285	L	0.60067	1.865	0.09310	N	1	P	0.45126	0.851	P	0.51550	0.673	T	0.36359	-0.9751	10	0.87932	D	0	.	3.7754	0.08657	0.0:0.3475:0.3505:0.302	.	252	Q8NGY9	OR2L8_HUMAN	E	252	ENSP00000349719:A252E	ENSP00000349719:A252E	A	+	2	0	OR2L8	246179537	0.000000	0.05858	0.211000	0.23655	0.010000	0.07245	-0.477000	0.06583	-0.281000	0.09141	-0.443000	0.05667	GCA		0.478	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			37	160	1	0	2.3623e-07	0.002522	2.6958e-07	37	160				
OR14C36	127066	broad.mit.edu	37	1	248512689	248512689	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:248512689G>T	ENST00000317861.1	+	1	613	c.613G>T	c.(613-615)Ggt>Tgt	p.G205C		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TCTGGGGGTAGGTGGCGGCTG	0.478																																							uc010pzl.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(613-615)GGT>TGT		olfactory receptor, family 14, subfamily C,							166.0	152.0	157.0					1																	248512689		2203	4300	6503	SO:0001583	missense	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512689G>T	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.613G>T	1.37:g.248512689G>T	ENSP00000324534:p.Gly205Cys						p.G205C	NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN			1	613	+			205			Helical; Name=5; (Potential).		Q6IEZ6	Missense_Mutation	SNP	ENST00000317861.1	37	c.613G>T	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	G	8.808	0.934577	0.18206	.	.	ENSG00000177174	ENST00000317861	T	0.37411	1.2	3.91	2.97	0.34412	GPCR, rhodopsin-like superfamily (1);	0.309649	0.22835	N	0.055055	T	0.31544	0.0800	L	0.43923	1.385	0.09310	N	1	B	0.27700	0.186	B	0.35688	0.208	T	0.22417	-1.0217	10	0.37606	T	0.19	.	8.1284	0.31012	0.0:0.149:0.5459:0.3052	.	205	Q8NHC7	O14CZ_HUMAN	C	205	ENSP00000324534:G205C	ENSP00000324534:G205C	G	+	1	0	OR14C36	246579312	0.000000	0.05858	0.044000	0.18714	0.006000	0.05464	-1.147000	0.03188	0.838000	0.34948	0.395000	0.25975	GGT		0.478	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		28	103	1	0	1.39806e-14	0.008361	1.82029e-14	28	103				
MCM10	55388	broad.mit.edu	37	10	13217680	13217680	+	Splice_Site	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr10:13217680A>T	ENST00000484800.2	+	6	869	c.766A>T	c.(766-768)Agg>Tgg	p.R256W	MCM10_ENST00000378714.3_Splice_Site_p.R255W|MCM10_ENST00000378694.1_Splice_Site_p.R255W			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	256	OB-fold domain. {ECO:0000250}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TCTGCGGCTCAGGTCAGTAGC	0.493																																							uc001ima.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(766-768)AGG>TGG		minichromosome maintenance complex component 10							116.0	115.0	115.0					10																	13217680		2203	4300	6503	SO:0001630	splice_region_variant	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13217680A>T	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.767+1A>T	10.37:g.13217680A>T						MCM10_uc001imb.2_Missense_Mutation_p.R255W|MCM10_uc001imc.2_Missense_Mutation_p.R255W	p.R256W	NM_182751	NP_877428	Q7L590	MCM10_HUMAN			6	867	+			256					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	ENST00000484800.2	37	c.766A>T	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.083681	0.76642	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.16743	2.33;2.33;2.32	5.29	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.43919	0.1269	M	0.85945	2.785	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.992;0.981	T	0.48768	-0.9006	10	0.72032	D	0.01	-9.1175	11.5574	0.50757	0.8521:0.1479:0.0:0.0	.	255;255;256	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	W	255;256;256;255	ENSP00000367986:R255W;ENSP00000418268:R256W;ENSP00000367966:R255W	ENSP00000354945:R256W	R	+	1	2	MCM10	13257686	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	4.957000	0.63652	2.140000	0.66376	0.460000	0.39030	AGG		0.493	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751	Missense_Mutation	54	110	0	0	0	0.00361	0	54	110				
BTAF1	9044	broad.mit.edu	37	10	93767940	93767940	+	Silent	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr10:93767940C>A	ENST00000265990.6	+	26	4029	c.3721C>A	c.(3721-3723)Cga>Aga	p.R1241R	BTAF1_ENST00000544642.1_Silent_p.R69R	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1241					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AGCCAAGGAGCGACACTTTTT	0.343																																							uc001khr.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3721-3723)CGA>AGA		BTAF1 RNA polymerase II, B-TFIID transcription							92.0	102.0	99.0					10																	93767940		2203	4300	6503	SO:0001819	synonymous_variant	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93767940C>A	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.3721C>A	10.37:g.93767940C>A							p.R1241R	NM_003972	NP_003963	O14981	BTAF1_HUMAN			26	3819	+		Colorectal(252;0.0846)	1241					B4E0W6|O43578	Silent	SNP	ENST00000265990.6	37	c.3721C>A	CCDS7419.1																																																																																				0.343	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		46	86	1	0	4.10826e-27	0.00361	5.94778e-27	46	86				
BTAF1	9044	broad.mit.edu	37	10	93767954	93767954	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr10:93767954G>C	ENST00000265990.6	+	26	4043	c.3735G>C	c.(3733-3735)gaG>gaC	p.E1245D	BTAF1_ENST00000544642.1_Missense_Mutation_p.E73D	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1245					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ACTTTTTGGAGCAATTGTTAG	0.338																																							uc001khr.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3733-3735)GAG>GAC		BTAF1 RNA polymerase II, B-TFIID transcription							86.0	95.0	92.0					10																	93767954		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93767954G>C	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.3735G>C	10.37:g.93767954G>C	ENSP00000265990:p.Glu1245Asp						p.E1245D	NM_003972	NP_003963	O14981	BTAF1_HUMAN			26	3833	+		Colorectal(252;0.0846)	1245					B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.3735G>C	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.597263	0.28445	.	.	ENSG00000095564	ENST00000265990;ENST00000544642;ENST00000538688	T;T	0.76448	-1.02;-1.02	4.7	-1.38	0.09027	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68016	0.2955	L	0.46670	1.46	0.49483	D	0.999794	B	0.31351	0.32	B	0.36464	0.225	T	0.55730	-0.8095	10	0.24483	T	0.36	-15.0725	10.0671	0.42311	0.7368:0.0:0.2632:0.0	.	1245	O14981	BTAF1_HUMAN	D	1245;73;95	ENSP00000265990:E1245D;ENSP00000439924:E73D	ENSP00000265990:E1245D	E	+	3	2	BTAF1	93757934	0.984000	0.35163	0.995000	0.50966	0.995000	0.86356	0.190000	0.17057	-0.144000	0.11314	-0.140000	0.14226	GAG		0.338	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		37	73	0	0	0	0.007835	0	37	73				
HELLS	3070	broad.mit.edu	37	10	96341154	96341154	+	Silent	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr10:96341154G>A	ENST00000348459.5	+	11	1209	c.1104G>A	c.(1102-1104)agG>agA	p.R368R	HELLS_ENST00000239026.6_3'UTR|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000371332.4_Silent_p.R368R|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000394045.1_Intron	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GTCTAATCAGGGAGTTAAAAC	0.338																																							uc001kjt.2		NA																	0				ovary(1)|kidney(1)	2						c.(1102-1104)AGG>AGA		helicase, lymphoid-specific							117.0	113.0	114.0					10																	96341154		2203	4300	6503	SO:0001819	synonymous_variant	3070				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity	g.chr10:96341154G>A	AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.1104G>A	10.37:g.96341154G>A						HELLS_uc001kjs.2_Silent_p.R352R|HELLS_uc009xul.2_Intron|HELLS_uc009xum.2_Intron|HELLS_uc009xun.2_Silent_p.R244R|HELLS_uc009xuo.2_Silent_p.R368R|HELLS_uc001kju.2_Silent_p.R7R|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_Silent_p.R230R|HELLS_uc009xur.2_Intron	p.R368R	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN		all cancers(201;2.13e-05)	11	1209	+		Colorectal(252;0.0429)	368			Helicase ATP-binding.			Silent	SNP	ENST00000348459.5	37	c.1104G>A	CCDS7434.1																																																																																				0.338	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063		23	31	0	0	0	0.002299	0	23	31				
KNDC1	85442	broad.mit.edu	37	10	135003264	135003264	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr10:135003264G>A	ENST00000304613.3	+	9	1543	c.1522G>A	c.(1522-1524)Gac>Aac	p.D508N	KNDC1_ENST00000368572.2_Missense_Mutation_p.D508N|KNDC1_ENST00000368571.2_Missense_Mutation_p.D443N			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	508	KIND 2. {ECO:0000255|PROSITE- ProRule:PRU00709}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGGTTCCTATGACTCGTTCTT	0.642																																							uc001llz.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1522-1524)GAC>AAC		kinase non-catalytic C-lobe domain (KIND)							99.0	105.0	103.0					10																	135003264		2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135003264G>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1522G>A	10.37:g.135003264G>A	ENSP00000304437:p.Asp508Asn					KNDC1_uc001lma.1_Missense_Mutation_p.D443N	p.D508N	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	9	1523	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	508			KIND 2.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.1522G>A	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	5.209	0.224040	0.09863	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.41400	1.0;1.0;1.0	3.9	-3.83	0.04269	KIND (2);	0.300697	0.25543	N	0.029954	T	0.15435	0.0372	N	0.04959	-0.14	0.09310	N	0.999996	B;B	0.12630	0.006;0.0	B;B	0.10450	0.005;0.001	T	0.28073	-1.0055	10	0.10636	T	0.68	-15.9142	9.6297	0.39772	0.4286:0.0:0.5714:0.0	.	443;508	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	N	508;508;443	ENSP00000304437:D508N;ENSP00000357561:D508N;ENSP00000357560:D443N	ENSP00000304437:D508N	D	+	1	0	KNDC1	134853254	0.382000	0.25148	0.000000	0.03702	0.006000	0.05464	1.032000	0.30178	-1.082000	0.03101	-0.254000	0.11334	GAC		0.642	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		10	28	0	0	0	0.008291	0	10	28				
BRSK2	9024	broad.mit.edu	37	11	1464822	1464822	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr11:1464822T>C	ENST00000528841.1	+	8	1121	c.737T>C	c.(736-738)cTg>cCg	p.L246P	BRSK2_ENST00000308230.5_Missense_Mutation_p.L246P|BRSK2_ENST00000308219.9_Missense_Mutation_p.L246P|BRSK2_ENST00000526678.1_Missense_Mutation_p.L246P|BRSK2_ENST00000544817.1_5'UTR|BRSK2_ENST00000382179.1_Missense_Mutation_p.L292P|BRSK2_ENST00000531197.1_Missense_Mutation_p.L246P|BRSK2_ENST00000528710.1_Missense_Mutation_p.L186P			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	246	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TGCCAGAGTCTGCTACGGGGC	0.706																																							uc001lti.2		NA																	0					0						c.(736-738)CTG>CCG		BR serine/threonine kinase 2							20.0	24.0	23.0					11																	1464822		2162	4277	6439	SO:0001583	missense	9024				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr11:1464822T>C	AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.737T>C	11.37:g.1464822T>C	ENSP00000432000:p.Leu246Pro					BRSK2_uc009ycv.1_Missense_Mutation_p.L246P|BRSK2_uc001lth.1_Missense_Mutation_p.L246P|BRSK2_uc001ltj.2_Missense_Mutation_p.L246P|BRSK2_uc001ltk.2_RNA|BRSK2_uc001ltl.2_Missense_Mutation_p.L246P|BRSK2_uc001ltm.2_Missense_Mutation_p.L292P|BRSK2_uc001ltn.2_RNA|BRSK2_uc010qwx.1_RNA	p.L246P	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)	8	1123	+		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	246			Protein kinase.		B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Missense_Mutation	SNP	ENST00000528841.1	37	c.737T>C	CCDS58107.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.953799	0.53293	.	.	ENSG00000174672	ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528710;ENST00000382179	T;T;T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74	3.27	3.27	0.37495	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.171130	0.39341	U	0.001387	D	0.89712	0.6794	H	0.96943	3.91	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.99;0.999;0.99;0.997;0.996	D	0.92159	0.5734	10	0.87932	D	0	.	12.0589	0.53550	0.0:0.0:0.0:1.0	.	246;292;246;246;246	Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.;.;.;BRSK2_HUMAN;.	P	246;246;246;246;246;186;292	ENSP00000310697:L246P;ENSP00000431152:L246P;ENSP00000310805:L246P;ENSP00000432000:L246P;ENSP00000433370:L246P;ENSP00000433235:L186P;ENSP00000371614:L292P	ENSP00000310697:L246P	L	+	2	0	BRSK2	1421398	1.000000	0.71417	1.000000	0.80357	0.040000	0.13550	7.504000	0.81646	1.498000	0.48600	0.260000	0.18958	CTG		0.706	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393033.1	NM_003957		7	8	0	0	0	0.006214	0	7	8				
ZNF195	7748	broad.mit.edu	37	11	3380864	3380864	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr11:3380864C>G	ENST00000399602.4	-	6	1500	c.1374G>C	c.(1372-1374)agG>agC	p.R458S	ZNF195_ENST00000354599.6_Missense_Mutation_p.R386S|ZNF195_ENST00000429541.2_Missense_Mutation_p.R390S|ZNF195_ENST00000526601.1_Missense_Mutation_p.R439S|ZNF195_ENST00000005082.9_Missense_Mutation_p.R435S|ZNF195_ENST00000343338.7_Missense_Mutation_p.R390S|ZNF195_ENST00000528796.1_Intron	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	458					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		CGGTGTGAATCCTCCTGTGTT	0.423																																							uc001lxt.2		NA																	0					0						c.(1372-1374)AGG>AGC		zinc finger protein 195 isoform 1							97.0	105.0	103.0					11																	3380864		2143	4277	6420	SO:0001583	missense	7748				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3380864C>G		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1374G>C	11.37:g.3380864C>G	ENSP00000382511:p.Arg458Ser					uc001lxr.2_5'Flank|ZNF195_uc001lxv.2_Missense_Mutation_p.R435S|ZNF195_uc001lxs.2_Missense_Mutation_p.R386S|ZNF195_uc010qxr.1_Missense_Mutation_p.R439S|ZNF195_uc009ydz.2_Missense_Mutation_p.R413S|ZNF195_uc001lxu.2_Missense_Mutation_p.R390S	p.R458S	NM_001130520	NP_001123992	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	6	1552	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	458			C2H2-type 4.		A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Missense_Mutation	SNP	ENST00000399602.4	37	c.1374G>C	CCDS44522.1	.	.	.	.	.	.	.	.	.	.	c	14.06	2.423193	0.43020	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601	T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87	1.27	-1.52	0.08637	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35128	0.0921	L	0.61036	1.89	0.22903	N	0.998588	P;B;D;B;D;B	0.58620	0.569;0.345;0.978;0.296;0.983;0.296	P;B;P;B;P;B	0.62435	0.523;0.019;0.842;0.011;0.902;0.011	T	0.20538	-1.0272	9	0.54805	T	0.06	.	1.6323	0.02734	0.2927:0.2954:0.0:0.4119	.	439;317;435;390;458;386	O14628-6;Q59EZ7;O14628-5;O14628-7;O14628;O14628-4	.;.;.;.;ZN195_HUMAN;.	S	386;458;390;390;435;439	ENSP00000346613:R386S;ENSP00000382511:R458S;ENSP00000344483:R390S;ENSP00000387998:R390S;ENSP00000005082:R435S;ENSP00000435828:R439S	ENSP00000005082:R435S	R	-	3	2	ZNF195	3337440	0.000000	0.05858	0.001000	0.08648	0.660000	0.38997	-2.953000	0.00676	-0.248000	0.09583	0.305000	0.20034	AGG		0.423	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			43	54	0	0	0	0.009718	0	43	54				
OR51M1	390059	broad.mit.edu	37	11	5410885	5410885	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr11:5410885G>T	ENST00000328611.3	+	1	279	c.257G>T	c.(256-258)tGt>tTt	p.C86F	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	86					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGGCTGTGTGTGTCCACG	0.473																																							uc010qzc.1		NA																	0					0						c.(256-258)TGT>TTT		olfactory receptor, family 51, subfamily M,							153.0	144.0	147.0					11																	5410885		2045	4197	6242	SO:0001583	missense	390059					integral to membrane	olfactory receptor activity	g.chr11:5410885G>T	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.257G>T	11.37:g.5410885G>T	ENSP00000333196:p.Cys86Phe					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.C86F	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	257	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	86					Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	c.257G>T	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	G	5.283	0.237574	0.10023	.	.	ENSG00000184698	ENST00000328611	T	0.00433	7.43	5.01	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	0.724034	0.10618	U	0.653693	T	0.00496	0.0016	L	0.45352	1.415	0.19300	N	0.999975	B	0.25563	0.129	B	0.33690	0.168	T	0.51260	-0.8728	10	0.87932	D	0	.	14.32	0.66479	0.0:0.8479:0.1521:0.0	.	75	Q9H341	O51M1_HUMAN	F	86	ENSP00000333196:C86F	ENSP00000333196:C86F	C	+	2	0	OR51M1	5367461	0.000000	0.05858	0.031000	0.17742	0.001000	0.01503	-0.088000	0.11198	1.334000	0.45468	-0.153000	0.13522	TGT		0.473	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		48	89	1	0	1.61863e-15	0.00361	2.18065e-15	48	89				
RBMXL2	27288	broad.mit.edu	37	11	7111194	7111194	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr11:7111194G>T	ENST00000306904.5	+	1	1030	c.843G>T	c.(841-843)gaG>gaT	p.E281D		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	281	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCCATCGAGAGCCCTTTGAGA	0.662																																							uc001mfc.2		NA																	0					0						c.(841-843)GAG>GAT		testes-specific heterogenous nuclear							21.0	25.0	24.0					11																	7111194		2194	4288	6482	SO:0001583	missense	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7111194G>T	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.843G>T	11.37:g.7111194G>T	ENSP00000304139:p.Glu281Asp						p.E281D	NM_014469	NP_055284	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	1030	+			281			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	ENST00000306904.5	37	c.843G>T	CCDS7777.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.605885	0.00121	.	.	ENSG00000170748	ENST00000306904	T	0.70516	-0.49	3.32	-0.759	0.11045	.	0.059364	0.64402	N	0.000004	T	0.30230	0.0758	N	0.02539	-0.55	0.20403	N	0.999902	B	0.02656	0.0	B	0.01281	0.0	T	0.29088	-1.0023	10	0.02654	T	1	.	1.9488	0.03362	0.1559:0.4855:0.1583:0.2003	.	281	O75526	HNRGT_HUMAN	D	281	ENSP00000304139:E281D	ENSP00000304139:E281D	E	+	3	2	RBMXL2	7067770	0.001000	0.12720	0.200000	0.23457	0.004000	0.04260	-0.238000	0.08977	-0.146000	0.11274	-2.100000	0.00362	GAG		0.662	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		16	23	1	0	6.31663e-08	0.003163	7.25104e-08	16	23				
OR5A1	219982	broad.mit.edu	37	11	59210760	59210760	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr11:59210760C>A	ENST00000302030.2	+	1	144	c.119C>A	c.(118-120)aCc>aAc	p.T40N		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						ATCTATCTTACCACCCTGGCC	0.502																																							uc001nnx.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(118-120)ACC>AAC		olfactory receptor, family 5, subfamily A,							135.0	128.0	130.0					11																	59210760		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59210760C>A	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.119C>A	11.37:g.59210760C>A	ENSP00000303096:p.Thr40Asn						p.T40N	NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN			1	119	+			40			Helical; Name=1; (Potential).		B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.119C>A	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	C	4.571	0.106023	0.08780	.	.	ENSG00000172320	ENST00000302030	T	0.00441	7.41	6.16	2.61	0.31194	.	0.418143	0.20218	N	0.096749	T	0.00440	0.0014	M	0.65975	2.015	0.09310	N	1	B	0.23316	0.083	B	0.15484	0.013	T	0.42832	-0.9428	10	0.87932	D	0	-3.4997	10.908	0.47092	0.0:0.1483:0.0:0.8517	.	40	Q8NGJ0	OR5A1_HUMAN	N	40	ENSP00000303096:T40N	ENSP00000303096:T40N	T	+	2	0	OR5A1	58967336	0.019000	0.18553	0.000000	0.03702	0.008000	0.06430	2.107000	0.41844	0.194000	0.20326	-1.206000	0.01644	ACC		0.502	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		53	96	1	0	2.31418e-15	0.00361	3.09621e-15	53	96				
VWF	7450	broad.mit.edu	37	12	6103248	6103248	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:6103248G>C	ENST00000261405.5	-	37	6632	c.6378C>G	c.(6376-6378)atC>atG	p.I2126M		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2126	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCTCCTCCAGGATGGGCTGGC	0.572																																							uc001qnn.1		NA																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(6376-6378)ATC>ATG		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						89.0	76.0	80.0					12																	6103248		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6103248G>C		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.6378C>G	12.37:g.6103248G>C	ENSP00000261405:p.Ile2126Met					VWF_uc010set.1_Intron	p.I2126M	NM_000552	NP_000543	P04275	VWF_HUMAN			37	6628	-			2126			VWFD 4.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.6378C>G	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	3.833	-0.035372	0.07497	.	.	ENSG00000110799	ENST00000261405	T	0.36340	1.26	5.17	-3.82	0.04281	von Willebrand factor, type D domain (1);	0.996923	0.08120	N	0.994856	T	0.20007	0.0481	L	0.34521	1.04	0.09310	N	1	B	0.31790	0.34	B	0.23716	0.048	T	0.17289	-1.0374	10	0.45353	T	0.12	.	3.882	0.09082	0.1537:0.3554:0.3747:0.1163	.	2126	P04275	VWF_HUMAN	M	2126	ENSP00000261405:I2126M	ENSP00000261405:I2126M	I	-	3	3	VWF	5973509	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-2.384000	0.01063	-0.592000	0.05851	-0.340000	0.08031	ATC		0.572	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		28	39	0	0	0	0.004656	0	28	39				
CD4	920	broad.mit.edu	37	12	6923458	6923458	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:6923458T>C	ENST00000011653.4	+	4	623	c.365T>C	c.(364-366)gTg>gCg	p.V122A	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Missense_Mutation_p.V67A	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	122	Ig-like V-type.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	CAATTGCTAGTGTTCGGATGT	0.517																																							uc001qqv.1		NA																	0					0						c.(364-366)GTG>GCG		CD4 antigen precursor							153.0	142.0	146.0					12																	6923458		2203	4300	6503	SO:0001583	missense	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6923458T>C	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.365T>C	12.37:g.6923458T>C	ENSP00000011653:p.Val122Ala					CD4_uc009zez.1_Missense_Mutation_p.V67A|CD4_uc009zfa.1_RNA|CD4_uc009zfb.1_RNA|CD4_uc010sfj.1_5'UTR|CD4_uc009zfc.1_5'UTR|CD4_uc010sfk.1_Intron|CD4_uc010sfl.1_5'UTR|CD4_uc010sfm.1_5'UTR	p.V122A	NM_000616	NP_000607	P01730	CD4_HUMAN			4	610	+		Myeloproliferative disorder(1001;0.0122)	122			Extracellular (Potential).|Ig-like V-type.		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Missense_Mutation	SNP	ENST00000011653.4	37	c.365T>C	CCDS8562.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.864540	0.51482	.	.	ENSG00000010610	ENST00000011653;ENST00000541982	T;T	0.55234	1.29;0.53	4.89	4.89	0.63831	.	0.630445	0.14232	N	0.332653	T	0.74061	0.3667	M	0.85197	2.74	0.41965	D	0.990724	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.75659	-0.3241	10	0.62326	D	0.03	0.2677	10.9137	0.47124	0.0:0.0:0.0:1.0	.	67;122	F5H480;P01730	.;CD4_HUMAN	A	122;67	ENSP00000011653:V122A;ENSP00000445167:V67A	ENSP00000011653:V122A	V	+	2	0	CD4	6793719	1.000000	0.71417	0.981000	0.43875	0.217000	0.24651	2.253000	0.43205	1.840000	0.53500	0.260000	0.18958	GTG		0.517	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		24	30	0	0	0	0.00333	0	24	30				
USP5	8078	broad.mit.edu	37	12	6972375	6972375	+	Silent	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:6972375G>A	ENST00000229268.8	+	15	1840	c.1788G>A	c.(1786-1788)gaG>gaA	p.E596E	USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_Silent_p.E596E	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	596	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						TGCCAGAGGAGCTCGACATCT	0.612																																							uc001qri.3		NA																	0				lung(2)|breast(1)|skin(1)	4						c.(1786-1788)GAG>GAA		ubiquitin specific peptidase 5 isoform 1							64.0	62.0	62.0					12																	6972375		2203	4300	6503	SO:0001819	synonymous_variant	8078				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr12:6972375G>A	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.1788G>A	12.37:g.6972375G>A						USP5_uc001qrh.3_Silent_p.E596E	p.E596E	NM_001098536	NP_001092006	P45974	UBP5_HUMAN			15	1847	+			596					D3DUS7|D3DUS8|Q96J22	Silent	SNP	ENST00000229268.8	37	c.1788G>A	CCDS41743.1																																																																																				0.612	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1			3	56	0	0	0	0.004672	0	3	56				
CLEC4C	170482	broad.mit.edu	37	12	7894063	7894063	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:7894063C>A	ENST00000542353.1	-	4	679	c.189G>T	c.(187-189)caG>caT	p.Q63H	CLEC4C_ENST00000360345.3_Missense_Mutation_p.Q63H|CLEC4C_ENST00000354629.5_Missense_Mutation_p.Q32H|CLEC4C_ENST00000540085.1_Missense_Mutation_p.Q32H	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	63					innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		TTGGATGATACTGTTGATACT	0.418																																							uc001qtg.1		NA																	0				ovary(2)|skin(1)	3						c.(187-189)CAG>CAT		C-type lectin domain family 4, member C isoform							205.0	171.0	182.0					12																	7894063		2203	4300	6503	SO:0001583	missense	170482				innate immune response	integral to membrane	sugar binding	g.chr12:7894063C>A	AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"""C-type lectin domain containing"", ""CD molecules"""	13258	protein-coding gene	gene with protein product		606677	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"""	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.189G>T	12.37:g.7894063C>A	ENSP00000440428:p.Gln63His					CLEC4C_uc001qth.1_Missense_Mutation_p.Q63H|CLEC4C_uc001qti.1_Missense_Mutation_p.Q32H	p.Q63H	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN		Kidney(36;0.0915)	3	363	-			63			Extracellular (Potential).		D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Missense_Mutation	SNP	ENST00000542353.1	37	c.189G>T	CCDS8583.1	.	.	.	.	.	.	.	.	.	.	C	9.812	1.183428	0.21870	.	.	ENSG00000198178	ENST00000542353;ENST00000354629;ENST00000540085;ENST00000360345	T;T;T;T	0.02369	4.39;4.32;4.32;4.39	1.79	-3.59	0.04583	.	.	.	.	.	T	0.03011	0.0089	N	0.14661	0.345	0.09310	N	1	B;D	0.57899	0.041;0.981	B;P	0.54270	0.006;0.747	T	0.27123	-1.0083	9	0.48119	T	0.1	.	5.1048	0.14777	0.0:0.1958:0.5822:0.222	.	32;63	Q8WTT0-2;Q8WTT0	.;CLC4C_HUMAN	H	63;32;32;63	ENSP00000440428:Q63H;ENSP00000346648:Q32H;ENSP00000445338:Q32H;ENSP00000353500:Q63H	ENSP00000346648:Q32H	Q	-	3	2	CLEC4C	7785330	0.000000	0.05858	0.000000	0.03702	0.139000	0.21198	-0.440000	0.06888	-1.512000	0.01791	0.514000	0.50259	CAG		0.418	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399750.1	NM_203503		33	72	1	0	9.45814e-24	0.004878	1.33933e-23	33	72				
TAS2R19	259294	broad.mit.edu	37	12	11175134	11175134	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:11175134C>G	ENST00000390673.2	-	1	85	c.37G>C	c.(37-39)Gta>Cta	p.V13L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	13					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						GCAAACACTACCAGAATTGAT	0.388																																							uc010shj.1		NA																	0				skin(1)	1						c.(37-39)GTA>CTA		taste receptor, type 2, member 19							73.0	67.0	69.0					12																	11175134		2202	4300	6502	SO:0001583	missense	259294				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11175134C>G	AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19108	protein-coding gene	gene with protein product		613961	"""taste receptor, type 2, member 48"", ""taste receptor, type 2, member 23"""	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.37G>C	12.37:g.11175134C>G	ENSP00000375091:p.Val13Leu					PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.V13L	NM_176888	NP_795369	P59542	T2R19_HUMAN			1	37	-			13			Helical; Name=1; (Potential).		Q3MIJ4|Q645X8	Missense_Mutation	SNP	ENST00000390673.2	37	c.37G>C	CCDS8640.1	.	.	.	.	.	.	.	.	.	.	.	0.488	-0.876873	0.02550	.	.	ENSG00000212124	ENST00000390673	T	0.33654	1.4	2.45	-4.89	0.03103	.	1.149070	0.06940	U	0.812655	T	0.26521	0.0648	L	0.41079	1.255	0.09310	N	1	P	0.41159	0.74	P	0.44673	0.457	T	0.08576	-1.0715	10	0.30854	T	0.27	.	0.8766	0.01225	0.149:0.2226:0.2954:0.3329	.	13	P59542	T2R19_HUMAN	L	13	ENSP00000375091:V13L	ENSP00000375091:V13L	V	-	1	0	TAS2R19	11066401	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-7.525000	0.00034	-2.130000	0.00816	-1.210000	0.01631	GTA		0.388	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370080.1	NM_176888		18	50	0	0	0	0.001882	0	18	50				
HNRNPA1	3178	broad.mit.edu	37	12	54677000	54677000	+	Missense_Mutation	SNP	G	G	T	rs372023836		TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:54677000G>T	ENST00000340913.6	+	8	942	c.889G>T	c.(889-891)Ggc>Tgc	p.G297C	HNRNPA1_ENST00000546500.1_Intron|HNRNPA1_ENST00000330752.8_Intron|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000547276.1_Intron	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	297	Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						AGGCGGAGGCGGCTTTGGCGG	0.527																																					Colon(83;502 1289 8436 16406 24870)	Colon(83;502 1289 8436 16406 24870)	uc001sfl.2		NA																	0				skin(2)|ovary(1)	3						c.(889-891)GGC>TGC		heterogeneous nuclear ribonucleoprotein A1							55.0	77.0	70.0					12																	54677000		2059	4185	6244	SO:0001583	missense	3178				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding	g.chr12:54677000G>T	BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"""RNA binding motif (RRM) containing"""	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.889G>T	12.37:g.54677000G>T	ENSP00000341826:p.Gly297Cys					HNRNPA1_uc001sfm.2_Intron|HNRNPA1_uc009zng.2_Intron|HNRNPA1_uc009znh.2_Intron|HNRNPA1_uc009zni.2_Intron|HNRNPA1_uc001sfn.2_Intron|HNRNPA1_uc001sfo.3_Intron|HNRNPA1_uc009znj.1_Intron	p.G297C	NM_031157	NP_112420	P09651	ROA1_HUMAN			8	993	+			297			Gly-rich.		A8K4Z8|Q3MIB7|Q6PJZ7	Missense_Mutation	SNP	ENST00000340913.6	37	c.889G>T	CCDS44909.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074537	0.36566	.	.	ENSG00000135486	ENST00000340913	D	0.89196	-2.48	3.49	2.6	0.31112	.	.	.	.	.	D	0.83644	0.5299	L	0.50333	1.59	0.80722	D	1	B	0.17852	0.024	B	0.08055	0.003	T	0.79240	-0.1885	9	0.45353	T	0.12	.	8.4142	0.32662	0.0:0.0:0.7669:0.2331	.	297	P09651	ROA1_HUMAN	C	297	ENSP00000341826:G297C	ENSP00000341826:G297C	G	+	1	0	HNRNPA1	52963267	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.703000	0.47110	1.068000	0.40764	-0.385000	0.06624	GGC		0.527	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1	NM_031157		8	18	1	0	0.000157383	0.00308	0.000170572	8	18				
APAF1	317	broad.mit.edu	37	12	99076942	99076942	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:99076942G>A	ENST00000551964.1	+	15	2804	c.2068G>A	c.(2068-2070)Gaa>Aaa	p.E690K	APAF1_ENST00000339433.3_Missense_Mutation_p.E690K|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000549007.1_Missense_Mutation_p.E690K|APAF1_ENST00000359972.2_Missense_Mutation_p.E679K|APAF1_ENST00000547045.1_Missense_Mutation_p.E690K|APAF1_ENST00000550527.1_Missense_Mutation_p.E679K|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000357310.1_Missense_Mutation_p.E690K	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	690					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)	TATGACTGGGGAACTAGTACA	0.403																																							uc001tfz.2		NA																	0				ovary(2)|lung(1)	3						c.(2068-2070)GAA>AAA		apoptotic peptidase activating factor 1 isoform	Adenosine triphosphate(DB00171)						118.0	102.0	108.0					12																	99076942		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.chr12:99076942G>A	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.2068G>A	12.37:g.99076942G>A	ENSP00000448165:p.Glu690Lys					APAF1_uc001tfy.2_Missense_Mutation_p.E679K|APAF1_uc001tga.2_Missense_Mutation_p.E679K|APAF1_uc001tgb.2_Missense_Mutation_p.E690K|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Missense_Mutation_p.E99K	p.E690K	NM_181861	NP_863651	O14727	APAF_HUMAN			15	2645	+			690			WD 2.		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.2068G>A	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	G	8.781	0.928285	0.18131	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T	0.59906	1.69;0.23;0.23;0.23;1.69;0.23;0.23	5.67	-1.69	0.08186	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.468184	0.25570	N	0.029780	T	0.23688	0.0573	N	0.04063	-0.285	0.23862	N	0.996633	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.08055	0.002;0.001;0.001;0.002;0.003	T	0.26643	-1.0097	10	0.07030	T	0.85	-15.8504	6.6923	0.23179	0.4635:0.3543:0.1821:0.0	.	690;690;679;690;679	C9JLV4;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	K	690;679;690;690;679;690;690	ENSP00000448165:E690K;ENSP00000353059:E679K;ENSP00000349862:E690K;ENSP00000341830:E690K;ENSP00000448449:E679K;ENSP00000449791:E690K;ENSP00000448161:E690K	ENSP00000341830:E690K	E	+	1	0	APAF1	97601073	0.418000	0.25440	0.977000	0.42913	0.822000	0.46500	0.203000	0.17315	-0.380000	0.07894	0.655000	0.94253	GAA		0.403	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		36	47	0	0	0	0.003271	0	36	47				
GIT2	9815	broad.mit.edu	37	12	110370853	110370853	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:110370853T>C	ENST00000355312.3	-	20	2209	c.2210A>G	c.(2209-2211)cAg>cGg	p.Q737R	GIT2_ENST00000553118.1_Missense_Mutation_p.Q609R|GIT2_ENST00000551209.1_Missense_Mutation_p.Q686R|GIT2_ENST00000548655.1_5'Flank|GIT2_ENST00000354574.4_Missense_Mutation_p.Q659R|GIT2_ENST00000356259.4_Missense_Mutation_p.Q624R|GIT2_ENST00000457474.2_Missense_Mutation_p.Q659R|GIT2_ENST00000361006.5_Missense_Mutation_p.Q707R|GIT2_ENST00000343646.5_Missense_Mutation_p.Q627R|GIT2_ENST00000360185.4_Missense_Mutation_p.Q687R|GIT2_ENST00000338373.5_Missense_Mutation_p.Q639R|TCHP_ENST00000550780.1_3'UTR	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	737					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						GTACGCACACTGGATGACCTG	0.592																																							uc001tps.2		NA																	0				central_nervous_system(1)	1						c.(2209-2211)CAG>CGG		G protein-coupled receptor kinase interacting							162.0	131.0	142.0					12																	110370853		2203	4300	6503	SO:0001583	missense	9815				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr12:110370853T>C	AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4273	protein-coding gene	gene with protein product		608564	"""G protein-coupled receptor kinase interactor 2"""			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.2210A>G	12.37:g.110370853T>C	ENSP00000347464:p.Gln737Arg					TCHP_uc001tpo.1_RNA|GIT2_uc001tpr.2_3'UTR|GIT2_uc001tpq.2_Missense_Mutation_p.Q707R|GIT2_uc001tpv.2_Missense_Mutation_p.Q659R|GIT2_uc001tpu.2_Missense_Mutation_p.Q657R|GIT2_uc001tpt.2_Missense_Mutation_p.Q609R|GIT2_uc010sxu.1_Missense_Mutation_p.Q645R	p.Q737R	NM_057169	NP_476510	Q14161	GIT2_HUMAN			20	2375	-			737					Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	ENST00000355312.3	37	c.2210A>G	CCDS9138.1	.	.	.	.	.	.	.	.	.	.	T	32	5.165364	0.94768	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000338373;ENST00000343646;ENST00000356259;ENST00000457474;ENST00000361006;ENST00000553118;ENST00000551209;ENST00000552978	T;T;T;T;T;T;T;T;T;T	0.74947	-0.77;-0.86;-0.73;-0.67;-0.85;-0.63;-0.7;-0.76;-0.77;-0.89	5.53	5.53	0.82687	G protein-coupled receptor kinase-interacting protein 1 C term (1);	0.000000	0.85682	D	0.000000	D	0.85978	0.5823	M	0.77820	2.39	0.39296	D	0.964821	D;D;P;D;P	0.69078	0.996;0.996;0.786;0.997;0.58	D;D;P;D;P	0.85130	0.997;0.997;0.694;0.99;0.757	D	0.88410	0.3021	10	0.62326	D	0.03	.	14.8403	0.70217	0.0:0.0:0.0:1.0	.	659;659;609;737;707	Q14161-10;F8WAK2;Q14161-11;Q14161;Q14161-5	.;.;.;GIT2_HUMAN;.	R	737;687;659;639;627;624;659;707;609;686;123	ENSP00000347464:Q737R;ENSP00000353312:Q687R;ENSP00000346585:Q659R;ENSP00000340342:Q639R;ENSP00000340938:Q627R;ENSP00000348595:Q624R;ENSP00000391813:Q659R;ENSP00000354282:Q707R;ENSP00000447465:Q609R;ENSP00000448832:Q686R	ENSP00000340342:Q639R	Q	-	2	0	GIT2	108855236	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	8.040000	0.89188	2.097000	0.63578	0.374000	0.22700	CAG		0.592	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169		13	30	0	0	0	0.001855	0	13	30				
AACS	65985	broad.mit.edu	37	12	125621282	125621282	+	Missense_Mutation	SNP	C	C	G	rs141114409		TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:125621282C>G	ENST00000316519.6	+	17	1959	c.1753C>G	c.(1753-1755)Ctc>Gtc	p.L585V	AACS_ENST00000261686.6_Intron|AACS_ENST00000545511.1_Intron|AACS_ENST00000316543.10_Missense_Mutation_p.L183V|AACS_ENST00000543665.1_Intron|AACS_ENST00000398953.2_3'UTR	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	585					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GAGGGTGATCCTCTTCCTGAA	0.592																																							uc001uhc.2		NA																	0				ovary(1)|liver(1)|central_nervous_system(1)	3						c.(1753-1755)CTC>GTC		acetoacetyl-CoA synthetase							123.0	100.0	108.0					12																	125621282		2203	4300	6503	SO:0001583	missense	65985				fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	g.chr12:125621282C>G	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.1753C>G	12.37:g.125621282C>G	ENSP00000324842:p.Leu585Val					AACS_uc001uhd.2_Intron|AACS_uc009zyh.2_RNA|AACS_uc009zyi.2_Missense_Mutation_p.L183V	p.L585V	NM_023928	NP_076417	Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	17	1959	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		585					Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	ENST00000316519.6	37	c.1753C>G	CCDS9263.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999630	0.74818	.	.	ENSG00000081760	ENST00000316519;ENST00000316543;ENST00000539251;ENST00000536118	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.44644	0.1303	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55692	-0.8101	10	0.87932	D	0	.	19.3132	0.94199	0.0:1.0:0.0:0.0	.	585	Q86V21	AACS_HUMAN	V	585;183;50;140	ENSP00000324842:L585V;ENSP00000324929:L183V;ENSP00000439151:L50V;ENSP00000441331:L140V	ENSP00000324842:L585V	L	+	1	0	AACS	124187235	1.000000	0.71417	0.989000	0.46669	0.717000	0.41224	5.500000	0.66943	2.633000	0.89246	0.561000	0.74099	CTC		0.592	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928		21	48	0	0	0	0.002299	0	21	48				
PIWIL1	9271	broad.mit.edu	37	12	130847575	130847575	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:130847575C>A	ENST00000245255.3	+	18	2353	c.2081C>A	c.(2080-2082)cCc>cAc	p.P694H		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	694	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GAGTACATGCCCAGCCGGATC	0.488																																							uc001uik.2		NA																	0				ovary(2)	2						c.(2080-2082)CCC>CAC		piwi-like 1							110.0	109.0	109.0					12																	130847575		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130847575C>A	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.2081C>A	12.37:g.130847575C>A	ENSP00000245255:p.Pro694His					PIWIL1_uc001uij.1_Missense_Mutation_p.P694H	p.P694H	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	18	2171	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		694			Piwi.		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.2081C>A	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671420	0.88348	.	.	ENSG00000125207	ENST00000245255	T	0.46819	0.86	5.49	5.49	0.81192	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	D	0.82393	0.5027	H	0.98996	4.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	D	0.89672	0.3884	10	0.87932	D	0	-22.6821	18.3615	0.90376	0.0:1.0:0.0:0.0	.	694;694	Q96J94;Q96J94-2	PIWL1_HUMAN;.	H	694	ENSP00000245255:P694H	ENSP00000245255:P694H	P	+	2	0	PIWIL1	129413528	1.000000	0.71417	0.975000	0.42487	0.838000	0.47535	7.460000	0.80816	2.578000	0.87016	0.467000	0.42956	CCC		0.488	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			29	70	1	0	6.38683e-12	0.008361	8.04575e-12	29	70				
LECT1	11061	broad.mit.edu	37	13	53286940	53286940	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr13:53286940G>T	ENST00000377962.3	-	5	611	c.533C>A	c.(532-534)cCt>cAt	p.P178H	LECT1_ENST00000448904.2_Missense_Mutation_p.P178H			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	178	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		GTCCTTCACAGGCTGATCTAC	0.403																																							uc001vhf.2		NA																	0				ovary(2)	2						c.(532-534)CCT>CAT		leukocyte cell derived chemotaxin 1 isoform 1							88.0	90.0	89.0					13																	53286940		2203	4300	6503	SO:0001583	missense	11061				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane		g.chr13:53286940G>T	AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"""BRICHOS domain containing"""	17005	protein-coding gene	gene with protein product	"""BRICHOS domain containing 3"""	605147	"""multiple myeloma tumor suppressor 1"""	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.533C>A	13.37:g.53286940G>T	ENSP00000367198:p.Pro178His					LECT1_uc001vhg.2_Missense_Mutation_p.P178H|LECT1_uc001vhh.2_Missense_Mutation_p.P167H	p.P178H	NM_007015	NP_008946	O75829	LECT1_HUMAN		GBM - Glioblastoma multiforme(99;3.38e-08)	5	644	-		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	178			BRICHOS.		Q5TAM4|Q8TAY6|Q9UM18	Missense_Mutation	SNP	ENST00000377962.3	37	c.533C>A	CCDS9437.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581205	0.86748	.	.	ENSG00000136110	ENST00000448904;ENST00000377962;ENST00000431550	T;T;T	0.79749	-1.3;-1.3;-1.3	5.09	5.09	0.68999	BRICHOS (2);	0.000000	0.85682	D	0.000000	D	0.90349	0.6980	M	0.80746	2.51	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.97110	1.0;0.958;0.975	D	0.91713	0.5383	10	0.87932	D	0	.	18.5712	0.91136	0.0:0.0:1.0:0.0	.	214;178;178	Q5TAN5;O75829-2;O75829	.;.;LECT1_HUMAN	H	178;178;100	ENSP00000388576:P178H;ENSP00000367198:P178H;ENSP00000396035:P100H	ENSP00000367198:P178H	P	-	2	0	LECT1	52184941	1.000000	0.71417	0.995000	0.50966	0.927000	0.56198	9.202000	0.95026	2.359000	0.80004	0.650000	0.86243	CCT		0.403	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3			41	88	1	0	9.62906e-15	0.00623	1.26219e-14	41	88				
SMOC1	64093	broad.mit.edu	37	14	70418906	70418906	+	Nonsense_Mutation	SNP	C	C	T	rs528673871		TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr14:70418906C>T	ENST00000381280.4	+	2	404	c.151C>T	c.(151-153)Caa>Taa	p.Q51*	SMOC1_ENST00000361956.3_Nonsense_Mutation_p.Q51*|SMOC1_ENST00000555917.1_3'UTR	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	51	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CTCCAGGACTCAACCCAAACC	0.527																																							uc001xls.1		NA																	0				upper_aerodigestive_tract(1)|pancreas(1)	2						c.(151-153)CAA>TAA		secreted modular calcium-binding protein 1							138.0	125.0	130.0					14																	70418906		2203	4300	6503	SO:0001587	stop_gained	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70418906C>T	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.151C>T	14.37:g.70418906C>T	ENSP00000370680:p.Gln51*					SMOC1_uc001xlt.1_Nonsense_Mutation_p.Q51*	p.Q51*	NM_022137	NP_071420	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	2	404	+			51			Kazal-like.		A8K1S3|B2R7P5|Q96F78	Nonsense_Mutation	SNP	ENST00000381280.4	37	c.151C>T	CCDS9798.1	.	.	.	.	.	.	.	.	.	.	C	39	7.550325	0.98352	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	.	.	.	5.44	5.44	0.79542	.	0.068562	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8541	19.2675	0.93996	0.0:1.0:0.0:0.0	.	.	.	.	X	51	.	ENSP00000355110:Q51X	Q	+	1	0	SMOC1	69488659	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.114000	0.77103	2.573000	0.86826	0.655000	0.94253	CAA		0.527	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			44	74	0	0	0	0.002522	0	44	74				
VRTN	55237	broad.mit.edu	37	14	74824076	74824076	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr14:74824076A>T	ENST00000256362.4	+	2	831	c.590A>T	c.(589-591)aAg>aTg	p.K197M		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	197					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CGCAACCTCAAGATCCGGCCC	0.622																																							uc001xpw.3		NA																	0					0						c.(589-591)AAG>ATG		hypothetical protein LOC55237							126.0	112.0	117.0					14																	74824076		2203	4300	6503	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824076A>T	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.590A>T	14.37:g.74824076A>T	ENSP00000256362:p.Lys197Met						p.K197M	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00147)	2	781	+			197					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.590A>T	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	A	19.05	3.752125	0.69533	.	.	ENSG00000133980	ENST00000256362	T	0.52983	0.64	5.05	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.52208	0.1720	L	0.27053	0.805	0.48395	D	0.999642	D	0.89917	1.0	D	0.69307	0.963	T	0.54675	-0.8258	10	0.87932	D	0	-1.8312	10.783	0.46388	0.8409:0.1591:0.0:0.0	.	197	Q9H8Y1	VRTN_HUMAN	M	197	ENSP00000256362:K197M	ENSP00000256362:K197M	K	+	2	0	VRTN	73893829	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	5.411000	0.66386	0.925000	0.37094	0.459000	0.35465	AAG		0.622	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		33	58	0	0	0	0.002096	0	33	58				
GALC	2581	broad.mit.edu	37	14	88417089	88417089	+	Missense_Mutation	SNP	G	G	A	rs368284541		TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr14:88417089G>A	ENST00000261304.2	-	11	1271	c.1165C>T	c.(1165-1167)Cat>Tat	p.H389Y	GALC_ENST00000393569.2_Missense_Mutation_p.H363Y|GALC_ENST00000544807.2_Missense_Mutation_p.H333Y|GALC_ENST00000393568.4_Missense_Mutation_p.H366Y	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	389					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAATGTTTATGACTCTGAAAA	0.313																																							uc001xvt.2		NA																	0					0						c.(1165-1167)CAT>TAT		galactosylceramidase isoform a precursor							56.0	53.0	54.0					14																	88417089		1814	4074	5888	SO:0001583	missense	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88417089G>A	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1165C>T	14.37:g.88417089G>A	ENSP00000261304:p.His389Tyr					GALC_uc010tvw.1_RNA|GALC_uc010tvx.1_Missense_Mutation_p.H363Y|GALC_uc010tvy.1_Missense_Mutation_p.H366Y|GALC_uc010tvz.1_Missense_Mutation_p.H333Y	p.H389Y	NM_000153	NP_000144	P54803	GALC_HUMAN			11	1564	-			389					B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Missense_Mutation	SNP	ENST00000261304.2	37	c.1165C>T	CCDS9878.2	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326591	0.41197	.	.	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000539620;ENST00000393568	D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43	5.66	3.82	0.43975	.	0.220731	0.56097	N	0.000040	D	0.90607	0.7055	L	0.45051	1.395	0.58432	D	0.999994	B;B;B;B	0.20550	0.022;0.013;0.046;0.015	B;B;B;B	0.20955	0.021;0.032;0.028;0.014	D	0.87298	0.2303	10	0.35671	T	0.21	-12.3454	11.3872	0.49793	0.1507:0.0:0.8493:0.0	.	333;366;363;389	P54803-5;E7EPA4;P54803-4;P54803	.;.;.;GALC_HUMAN	Y	389;333;363;178;366	ENSP00000261304:H389Y;ENSP00000437513:H333Y;ENSP00000377199:H363Y;ENSP00000377198:H366Y	ENSP00000261304:H389Y	H	-	1	0	GALC	87486842	1.000000	0.71417	0.949000	0.38748	0.981000	0.71138	3.310000	0.51911	1.540000	0.49301	0.650000	0.86243	CAT		0.313	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			13	23	0	0	0	0.001368	0	13	23				
AHNAK2	113146	broad.mit.edu	37	14	105408344	105408344	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr14:105408344T>A	ENST00000333244.5	-	7	13563	c.13444A>T	c.(13444-13446)Atc>Ttc	p.I4482F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4482						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGACCTCGATGGACTTGCCT	0.562																																							uc010axc.1		NA																	0				ovary(1)	1						c.(13444-13446)ATC>TTC		AHNAK nucleoprotein 2							196.0	204.0	202.0					14																	105408344		2044	4188	6232	SO:0001583	missense	113146					nucleus		g.chr14:105408344T>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13444A>T	14.37:g.105408344T>A	ENSP00000353114:p.Ile4482Phe					AHNAK2_uc001ypx.2_Missense_Mutation_p.I4382F	p.I4482F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	13564	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4482					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.13444A>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	T	14.01	2.409193	0.42715	.	.	ENSG00000185567	ENST00000333244	T	0.00675	5.88	3.17	-6.34	0.01982	.	6.836560	0.01263	U	0.009242	T	0.02230	0.0069	M	0.79475	2.455	0.09310	N	1	D	0.60575	0.988	P	0.61070	0.883	T	0.48703	-0.9012	10	0.29301	T	0.29	-8.1521	0.851	0.01172	0.2401:0.2769:0.1133:0.3697	.	4482	Q8IVF2	AHNK2_HUMAN	F	4482	ENSP00000353114:I4482F	ENSP00000353114:I4482F	I	-	1	0	AHNAK2	104479389	0.096000	0.21769	0.000000	0.03702	0.147000	0.21601	1.042000	0.30303	-1.361000	0.02169	0.254000	0.18369	ATC		0.562	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		109	193	0	0	0	0.00361	0	109	193				
MNS1	55329	broad.mit.edu	37	15	56726471	56726471	+	Silent	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr15:56726471A>T	ENST00000260453.3	-	8	1298	c.1134T>A	c.(1132-1134)acT>acA	p.T378T	TEX9_ENST00000352903.2_Intron|MNS1_ENST00000566386.1_5'Flank|TEX9_ENST00000537232.1_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	378					cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		TAGCTAGCATAGTTTTTCTAA	0.383																																							uc002adr.2		NA																	0				ovary(1)	1						c.(1132-1134)ACT>ACA		meiosis-specific nuclear structural 1							193.0	181.0	185.0					15																	56726471		2192	4292	6484	SO:0001819	synonymous_variant	55329				meiosis			g.chr15:56726471A>T	AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"""spermatogenesis associated 40"""	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.1134T>A	15.37:g.56726471A>T						MNS1_uc010bfo.2_Silent_p.T246T|TEX9_uc002adp.2_Intron|TEX9_uc010ugl.1_Intron	p.T378T	NM_018365	NP_060835	Q8NEH6	MNS1_HUMAN		all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)	8	1299	-			378			Potential.		Q8IYT6|Q9NUP4	Silent	SNP	ENST00000260453.3	37	c.1134T>A	CCDS10158.1																																																																																				0.383	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	NM_018365		48	89	0	0	0	0.00361	0	48	89				
MAN2C1	4123	broad.mit.edu	37	15	75655060	75655060	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr15:75655060T>A	ENST00000267978.5	-	7	866	c.820A>T	c.(820-822)Agg>Tgg	p.R274W	MAN2C1_ENST00000563622.1_Intron|MAN2C1_ENST00000565683.1_Missense_Mutation_p.R274W|MAN2C1_ENST00000563539.1_5'UTR|MAN2C1_ENST00000569482.1_Missense_Mutation_p.R274W	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	274					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GCACATTTCCTCACAGTCTCT	0.617																																							uc002baf.2		NA																	0					0						c.(820-822)AGG>TGG		mannosidase, alpha, class 2C, member 1							69.0	70.0	70.0					15																	75655060		2197	4294	6491	SO:0001583	missense	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75655060T>A	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.820A>T	15.37:g.75655060T>A	ENSP00000267978:p.Arg274Trp					MAN2C1_uc002bag.2_Missense_Mutation_p.R274W|MAN2C1_uc002bah.2_Missense_Mutation_p.R274W|MAN2C1_uc010bkk.2_Intron|MAN2C1_uc010umi.1_Missense_Mutation_p.R56W|MAN2C1_uc010umj.1_RNA	p.R274W	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN			7	837	-			274					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	c.820A>T	CCDS32298.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.87|16.87	3.242217|3.242217	0.58995|0.58995	.|.	.|.	ENSG00000140400|ENSG00000140400	ENST00000267978|ENST00000421803	T|.	0.80033|.	-1.33|.	5.45|5.45	0.823|0.823	0.18812|0.18812	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.78541|.	0.4299|.	M|M	0.92507|0.92507	3.315|3.315	0.58432|0.58432	D|D	0.999996|0.999996	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.989;0.998|.	T|.	0.79293|.	-0.1863|.	10|.	0.87932|.	D|.	0|.	-36.489|-36.489	9.9503|9.9503	0.41634|0.41634	0.0:0.1139:0.3055:0.5807|0.0:0.1139:0.3055:0.5807	.|.	56;274;274|.	B4DVP6;Q68EM8;Q9NTJ4|.	.;.;MA2C1_HUMAN|.	W|C	274|210	ENSP00000267978:R274W|.	ENSP00000267978:R274W|.	R|X	-|-	1|3	2|0	MAN2C1|MAN2C1	73442113|73442113	1.000000|1.000000	0.71417|0.71417	0.731000|0.731000	0.30826|0.30826	0.856000|0.856000	0.48823|0.48823	2.050000|2.050000	0.41297|0.41297	0.166000|0.166000	0.19597|0.19597	0.459000|0.459000	0.35465|0.35465	AGG|TGA		0.617	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			11	25	0	0	0	0.001368	0	11	25				
RP11-24M17.5	0	broad.mit.edu	37	15	76074431	76074431	+	RNA	SNP	C	C	T	rs371238897		TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr15:76074431C>T	ENST00000395215.3	+	0	610																		p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547																																							uc010umm.1		NA																	2	Substitution - Missense(2)		endometrium(2)		NA						c.(532-534)TCG>TTG		SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;																																						0							g.chr15:76074431C>T																													15.37:g.76074431C>T						uc002bba.1_5'Flank	p.S178L							8	610	+									Missense_Mutation	SNP	ENST00000395215.3	37	c.533C>T		.	.	.	.	.	.	.	.	.	.	.	3.205	-0.162863	0.06502	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.789	0.789	0.18607	.	.	.	.	.	T	0.29850	0.0746	.	.	.	.	.	.	B	0.20550	0.046	B	0.15870	0.014	T	0.30208	-0.9986	6	0.27082	T	0.32	.	7.4893	0.27452	0.0:0.9999:0.0:1.0E-4	.	190	B4DZE6	.	L	190	.	ENSP00000378641:S190L	S	+	2	0	AC019294.2	73861486	0.987000	0.35691	0.013000	0.15412	0.024000	0.10985	3.310000	0.51911	0.745000	0.32763	0.274000	0.19336	TCG		0.547	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			8	43	0	0	0	0.008291	0	8	43				
AKAP13	11214	broad.mit.edu	37	15	86262350	86262350	+	Silent	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr15:86262350C>T	ENST00000394518.2	+	23	6140	c.6045C>T	c.(6043-6045)atC>atT	p.I2015I	AKAP13_ENST00000361243.2_Silent_p.I2019I|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Silent_p.I260I	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2015	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.|Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.K2018fs*1(3)|p.K94fs*1(3)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CTCTCAAGATCATGAGTGGTG	0.463																																					Melanoma(94;603 1453 3280 32295 32951)	Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1		NA																	6	Deletion - Frameshift(6)		haematopoietic_and_lymphoid_tissue(6)	central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(6043-6045)ATC>ATT		A-kinase anchor protein 13 isoform 2							137.0	119.0	125.0					15																	86262350		2202	4299	6501	SO:0001819	synonymous_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86262350C>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.6045C>T	15.37:g.86262350C>T						AKAP13_uc002blu.1_Silent_p.I2019I|AKAP13_uc010bnf.1_Silent_p.I636I|AKAP13_uc002blw.1_Silent_p.I480I|AKAP13_uc002blx.1_Silent_p.I260I	p.I2015I	NM_007200	NP_009131	Q12802	AKP13_HUMAN			23	6215	+			2015			Interaction with ESR1.|DH.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.6045C>T	CCDS32319.1																																																																																				0.463	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		18	67	0	0	0	0.006122	0	18	67				
AP3S2	10239	broad.mit.edu	37	15	90378752	90378752	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr15:90378752C>T	ENST00000336418.4	-	6	969	c.577G>A	c.(577-579)Gtc>Atc	p.V193I	C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.V394I|AP3S2_ENST00000560771.1_5'Flank|AP3S2_ENST00000558011.1_Missense_Mutation_p.V205I|AP3S2_ENST00000560940.1_Intron	NM_005829.4	NP_005820.1	P59780	AP3S2_HUMAN	adaptor-related protein complex 3, sigma 2 subunit	193					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)	protein transporter activity (GO:0008565)			NS(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(1)	6	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			GATCCTCAGACAAACTGGGAC	0.468																																							uc002boq.3		NA																	0					0						c.(577-579)GTC>ATC		adaptor-related protein complex 3, sigma 2							193.0	174.0	181.0					15																	90378752		2200	4299	6499	SO:0001583	missense	10239				intracellular protein transport|vesicle-mediated transport	cytoplasmic vesicle membrane|Golgi apparatus|membrane coat	protein transporter activity	g.chr15:90378752C>T	X99459	CCDS10357.1	15q26.1	2010-08-13			ENSG00000157823	ENSG00000157823			571	protein-coding gene	gene with protein product		602416				9118953	Standard	NM_005829		Approved	sigma3b		P59780	OTTHUMG00000149811	ENST00000336418.4:c.577G>A	15.37:g.90378752C>T	ENSP00000338777:p.Val193Ile					AP3S2_uc002bos.3_Missense_Mutation_p.V394I|AP3S2_uc010bns.2_RNA|AP3S2_uc002bor.3_RNA|AP3S2_uc010bnt.2_RNA	p.V193I	NM_005829	NP_005820	P59780	AP3S2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)		6	1013	-	Lung NSC(78;0.0181)|all_lung(78;0.0384)		193					B2R677|B4DGQ3|O09077|O09149|Q53H83|Q99589	Missense_Mutation	SNP	ENST00000336418.4	37	c.577G>A	CCDS10357.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.394604	0.42512	.	.	ENSG00000157823;ENSG00000250021	ENST00000336418;ENST00000398333	T;T	0.42900	0.97;0.96	5.36	4.42	0.53409	.	0.151859	0.31290	N	0.007901	T	0.22704	0.0548	N	0.08118	0	0.80722	D	1	B;B	0.29378	0.243;0.001	B;B	0.27380	0.079;0.001	T	0.06338	-1.0832	10	0.20046	T	0.44	-23.9113	13.2419	0.60002	0.1601:0.8399:0.0:0.0	.	394;193	E2QRD5;P59780	.;AP3S2_HUMAN	I	193;394	ENSP00000338777:V193I;ENSP00000381377:V394I	ENSP00000338777:V193I	V	-	1	0	C15orf38-AP3S2;AP3S2	88179756	.	.	1.000000	0.80357	0.898000	0.52572	.	.	1.347000	0.45714	0.655000	0.94253	GTC		0.468	AP3S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313422.1			64	129	0	0	0	0.00361	0	64	129				
ADAMTS17	170691	broad.mit.edu	37	15	100636675	100636675	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr15:100636675C>T	ENST00000268070.4	-	15	2128	c.2023G>A	c.(2023-2025)Ggc>Agc	p.G675S		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	675	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CCGTCACAGCCGATTTTCTAA	0.542																																							uc002bvv.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2023-2025)GGC>AGC		ADAM metallopeptidase with thrombospondin type 1							87.0	97.0	93.0					15																	100636675		2203	4300	6503	SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100636675C>T	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2023G>A	15.37:g.100636675C>T	ENSP00000268070:p.Gly675Ser					ADAMTS17_uc002bvx.1_Missense_Mutation_p.G432S	p.G675S	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	15	2102	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		675			Cys-rich.		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	c.2023G>A	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	C	33	5.267495	0.95399	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	T	0.62498	0.02	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.82305	0.5008	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.85647	0.1280	10	0.87932	D	0	.	17.6732	0.88224	0.0:1.0:0.0:0.0	.	432;675	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	S	675;432	ENSP00000268070:G675S	ENSP00000268070:G675S	G	-	1	0	ADAMTS17	98454198	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.691000	0.74573	2.461000	0.83175	0.650000	0.86243	GGC		0.542	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		52	106	0	0	0	0.00361	0	52	106				
NFATC2IP	84901	broad.mit.edu	37	16	28970370	28970370	+	Silent	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr16:28970370C>A	ENST00000320805.4	+	7	1125	c.1050C>A	c.(1048-1050)ctC>ctA	p.L350L	RP11-264B17.2_ENST00000569974.1_RNA|NFATC2IP_ENST00000568148.1_Silent_p.L58L|MIR4517_ENST00000578855.1_RNA|RP11-264B17.2_ENST00000568057.1_RNA|NFATC2IP_ENST00000564978.1_Silent_p.L71L	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	350	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cytokine production (GO:0001816)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						AGCTCCAGCTCCGGGTGCAGG	0.587																																							uc002dru.2		NA																	0				ovary(1)	1						c.(1048-1050)CTC>CTA		nuclear factor of activated T-cells,							71.0	66.0	68.0					16																	28970370		2197	4300	6497	SO:0001819	synonymous_variant	84901					cytoplasm|nucleus		g.chr16:28970370C>A	AK074761	CCDS10645.1	16p11.2	2010-09-13			ENSG00000176953	ENSG00000176953			25906	protein-coding gene	gene with protein product		614525				15698469	Standard	NM_032815		Approved	FLJ14639, NIP45, RAD60, ESC2	uc002dru.3	Q8NCF5	OTTHUMG00000097763	ENST00000320805.4:c.1050C>A	16.37:g.28970370C>A						uc010vct.1_Intron|NFATC2IP_uc002drt.2_Silent_p.L71L|NFATC2IP_uc002drv.2_Silent_p.L69L|NFATC2IP_uc010vdh.1_Silent_p.L58L	p.L350L	NM_032815	NP_116204	Q8NCF5	NF2IP_HUMAN			7	1065	+			350			Ubiquitin-like.		B7Z4G5|Q66K34|Q6NVK1|Q8NFR2|Q96ST9	Silent	SNP	ENST00000320805.4	37	c.1050C>A	CCDS10645.1																																																																																				0.587	NFATC2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214999.2	NM_032815		21	34	1	0	1.22574e-08	0.002299	1.44996e-08	21	34				
TGFB1I1	7041	broad.mit.edu	37	16	31485720	31485720	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr16:31485720A>G	ENST00000394863.3	+	6	593	c.463A>G	c.(463-465)Act>Gct	p.T155A	TGFB1I1_ENST00000567607.1_Missense_Mutation_p.T138A|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.T138A|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.T138A	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	155	Interaction with PTK2B/PYK2.|Transcription activation. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(8)|upper_aerodigestive_tract(1)	9						CACCTCAGCCACTCTGGAGCT	0.582																																							uc002ecd.1		NA																	0					0						c.(463-465)ACT>GCT		transforming growth factor beta 1 induced							72.0	68.0	69.0					16																	31485720		2197	4300	6497	SO:0001583	missense	7041				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding	g.chr16:31485720A>G	AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.463A>G	16.37:g.31485720A>G	ENSP00000378332:p.Thr155Ala					TGFB1I1_uc002ece.1_Missense_Mutation_p.T138A|TGFB1I1_uc010caq.1_5'UTR	p.T155A	NM_001042454	NP_001035919	O43294	TGFI1_HUMAN			6	489	+			155			Transcription activation (By similarity).|Interaction with PTK2B.		B2R8D5|Q9BPW3|Q9Y2V5	Missense_Mutation	SNP	ENST00000394863.3	37	c.463A>G	CCDS42156.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.878282	0.51801	.	.	ENSG00000140682	ENST00000394863;ENST00000361773;ENST00000394858	T;T;T	0.58358	0.34;0.36;0.36	5.23	5.23	0.72850	.	0.115132	0.56097	D	0.000022	T	0.43986	0.1272	L	0.39147	1.195	0.58432	D	0.999998	B	0.21753	0.06	B	0.22152	0.038	T	0.31081	-0.9956	10	0.27785	T	0.31	.	13.0943	0.59182	1.0:0.0:0.0:0.0	.	155	O43294	TGFI1_HUMAN	A	155;138;138	ENSP00000378332:T155A;ENSP00000355117:T138A;ENSP00000378327:T138A	ENSP00000355117:T138A	T	+	1	0	TGFB1I1	31393221	1.000000	0.71417	0.989000	0.46669	0.901000	0.52897	6.178000	0.71968	1.969000	0.57287	0.533000	0.62120	ACT		0.582	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255630.3			28	42	0	0	0	0.007291	0	28	42				
CALB2	794	broad.mit.edu	37	16	71411645	71411645	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr16:71411645A>G	ENST00000302628.4	+	4	414	c.337A>G	c.(337-339)Atg>Gtg	p.M113V	CALB2_ENST00000349553.5_Missense_Mutation_p.M113V	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	113	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				CGCCGAGTTTATGGAGGTGAG	0.582																																							uc002faa.3		NA																	0					0						c.(337-339)ATG>GTG		calbindin 2 isoform 1							90.0	81.0	84.0					16																	71411645		2198	4300	6498	SO:0001583	missense	794						calcium ion binding	g.chr16:71411645A>G	X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"""EF-hand domain containing"""	1435	protein-coding gene	gene with protein product	"""calretinin"""	114051	"""calbindin 2, 29kDa (calretinin)"""			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	ENST00000302628.4:c.337A>G	16.37:g.71411645A>G	ENSP00000307508:p.Met113Val					CALB2_uc010vme.1_RNA|CALB2_uc002fac.3_Missense_Mutation_p.M113V	p.M113V	NM_001740	NP_001731	P22676	CALB2_HUMAN			4	407	+		Ovarian(137;0.125)	113			EF-hand 3.		A8K4Y1|Q53HD2|Q96BK4	Missense_Mutation	SNP	ENST00000302628.4	37	c.337A>G	CCDS10899.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.022174	0.54576	.	.	ENSG00000172137	ENST00000349553;ENST00000302628	T;T	0.71222	-0.55;-0.55	5.48	5.48	0.80851	EF-hand-like domain (1);	0.034113	0.85682	D	0.000000	T	0.75280	0.3828	M	0.65975	2.015	0.58432	D	0.999997	B;B	0.20671	0.047;0.015	B;B	0.38296	0.27;0.103	T	0.75207	-0.3399	10	0.72032	D	0.01	-26.7153	13.8817	0.63686	1.0:0.0:0.0:0.0	.	113;113	A6NER6;P22676	.;CALB2_HUMAN	V	113	ENSP00000340294:M113V;ENSP00000307508:M113V	ENSP00000307508:M113V	M	+	1	0	CALB2	69969146	1.000000	0.71417	0.998000	0.56505	0.885000	0.51271	8.164000	0.89661	2.224000	0.72417	0.491000	0.48974	ATG		0.582	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268988.1	NM_001740		18	26	0	0	0	0.006122	0	18	26				
USP6	9098	broad.mit.edu	37	17	5048007	5048007	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:5048007C>T	ENST00000574788.1	+	26	4071	c.1841C>T	c.(1840-1842)cCc>cTc	p.P614L	USP6_ENST00000250066.6_Missense_Mutation_p.P614L|USP6_ENST00000304328.5_Missense_Mutation_p.P297L|USP6_ENST00000332776.4_Missense_Mutation_p.P614L			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	614	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AAATATGCTCCCAAGTTTGAT	0.388			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																		uc002gau.1		NA		Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	COL1A1|CDH11|ZNF9|OMD		aneurysmal bone cysts		0				skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						c.(1840-1842)CCC>CTC		ubiquitin specific protease 6							127.0	118.0	121.0					17																	5048007		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5048007C>T	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1841C>T	17.37:g.5048007C>T	ENSP00000460380:p.Pro614Leu					USP6_uc002gav.1_Missense_Mutation_p.P614L|USP6_uc010ckz.1_Missense_Mutation_p.P297L	p.P614L	NM_004505	NP_004496	P35125	UBP6_HUMAN			26	4071	+			614					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.1841C>T	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777887	0.49786	.	.	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000304328	T;T;T	0.34472	1.36;3.92;3.92	2.35	2.35	0.29111	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.59972	0.2233	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66035	-0.6023	10	0.87932	D	0	.	10.4068	0.44266	0.0:1.0:0.0:0.0	.	297;614	P35125-2;P35125	.;UBP6_HUMAN	L	614;614;297	ENSP00000328010:P614L;ENSP00000250066:P614L;ENSP00000305473:P297L	ENSP00000250066:P614L	P	+	2	0	USP6	4988731	1.000000	0.71417	1.000000	0.80357	0.291000	0.27294	7.544000	0.82117	1.313000	0.45069	0.184000	0.17185	CCC		0.388	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		48	74	0	0	0	0.00361	0	48	74				
GLP2R	9340	broad.mit.edu	37	17	9774129	9774129	+	Missense_Mutation	SNP	G	G	C	rs564246878		TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:9774129G>C	ENST00000262441.5	+	10	1635	c.1122G>C	c.(1120-1122)atG>atC	p.M374I	GLP2R_ENST00000574745.1_Missense_Mutation_p.M194I	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	374					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	CTCATCAAATGTGCTTCAGAG	0.413																																							uc002gmd.1		NA																	0				lung(2)|ovary(1)	3						c.(1120-1122)ATG>ATC		glucagon-like peptide 2 receptor precursor	Glucagon recombinant(DB00040)						143.0	154.0	150.0					17																	9774129		2203	4299	6502	SO:0001583	missense	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9774129G>C	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.1122G>C	17.37:g.9774129G>C	ENSP00000262441:p.Met374Ile						p.M374I	NM_004246	NP_004237	O95838	GLP2R_HUMAN			10	1122	+			374			Cytoplasmic (Potential).		Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	c.1122G>C	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872952	0.33069	.	.	ENSG00000065325	ENST00000396206;ENST00000262441	T	0.37058	1.22	6.17	6.17	0.99709	GPCR, family 2-like (1);	0.000000	0.48286	D	0.000183	T	0.48429	0.1499	L	0.39467	1.215	0.38273	D	0.942194	P	0.42961	0.795	P	0.54664	0.758	T	0.38134	-0.9675	10	0.49607	T	0.09	.	17.7962	0.88572	0.0:0.0:1.0:0.0	.	374	O95838	GLP2R_HUMAN	I	374	ENSP00000262441:M374I	ENSP00000262441:M374I	M	+	3	0	GLP2R	9714854	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	7.446000	0.80609	2.941000	0.99782	0.655000	0.94253	ATG		0.413	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			64	106	0	0	0	0.00361	0	64	106				
NCOR1	9611	broad.mit.edu	37	17	15950288	15950288	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:15950288G>C	ENST00000268712.3	-	42	6913	c.6656C>G	c.(6655-6657)tCt>tGt	p.S2219C	NCOR1_ENST00000395857.3_Missense_Mutation_p.S803C|NCOR1_ENST00000395851.1_Missense_Mutation_p.S2116C	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2219	ID2. {ECO:0000250}.|Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACCTCCACCAGAGGAGTTCAA	0.398																																							uc002gpo.2		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(6655-6657)TCT>TGT		nuclear receptor co-repressor 1							115.0	109.0	111.0					17																	15950288		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15950288G>C	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.6656C>G	17.37:g.15950288G>C	ENSP00000268712:p.Ser2219Cys					NCOR1_uc002gpn.2_Missense_Mutation_p.S2116C|NCOR1_uc002gpl.2_Missense_Mutation_p.S234C|NCOR1_uc002gpm.2_Missense_Mutation_p.S739C|NCOR1_uc010vwb.1_Missense_Mutation_p.S803C|NCOR1_uc010coy.2_Missense_Mutation_p.S1127C|NCOR1_uc010vwc.1_Missense_Mutation_p.S1029C	p.S2219C	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	42	6896	-			2219			Interaction with C1D (By similarity).|ID2 (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.6656C>G	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324090	0.60634	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.47528	0.84;1.42;0.84	5.61	5.61	0.85477	.	0.159441	0.64402	D	0.000020	T	0.62841	0.2461	L	0.52573	1.65	0.80722	D	1	B;P;D;P;B;B	0.76494	0.06;0.482;0.999;0.48;0.061;0.004	B;B;P;B;B;B	0.62885	0.03;0.105;0.908;0.429;0.033;0.01	T	0.62609	-0.6818	10	0.56958	D	0.05	-10.3045	18.6101	0.91281	0.0:0.0:1.0:0.0	.	1029;2123;2219;2116;739;233	B4DZ48;E7EVK1;O75376;O75376-2;Q86YY1;Q86YY2	.;.;NCOR1_HUMAN;.;.;.	C	2219;2116;2123;803	ENSP00000268712:S2219C;ENSP00000379192:S2116C;ENSP00000379198:S803C	ENSP00000268712:S2219C	S	-	2	0	NCOR1	15891013	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.945000	0.75947	2.647000	0.89833	0.555000	0.69702	TCT		0.398	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		6	91	0	0	0	0.001168	0	6	91				
FLCN	201163	broad.mit.edu	37	17	17119768	17119768	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:17119768T>A	ENST00000285071.4	-	11	1680	c.1226A>T	c.(1225-1227)tAc>tTc	p.Y409F	RP11-45M22.4_ENST00000427497.3_3'UTR	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	409					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGCCTCCTCGTACTGGCTGCT	0.667									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																														uc002gra.3		NA																	0				thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3						c.(1225-1227)TAC>TTC		folliculin isoform 1							92.0	68.0	76.0					17																	17119768		2202	4300	6502	SO:0001583	missense	201163	Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	g.chr17:17119768T>A	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.1226A>T	17.37:g.17119768T>A	ENSP00000285071:p.Tyr409Phe					PLD6_uc010cpn.2_RNA	p.Y409F	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN			11	1730	-			409					A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Missense_Mutation	SNP	ENST00000285071.4	37	c.1226A>T	CCDS32579.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.631705	0.87660	.	.	ENSG00000154803	ENST00000285071	D	0.97870	-4.58	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.95360	0.8494	L	0.45051	1.395	0.80722	D	1	P	0.44429	0.835	B	0.37198	0.243	D	0.95327	0.8426	10	0.48119	T	0.1	-16.8474	16.3436	0.83110	0.0:0.0:0.0:1.0	.	409	Q8NFG4	FLCN_HUMAN	F	409	ENSP00000285071:Y409F	ENSP00000285071:Y409F	Y	-	2	0	FLCN	17060493	1.000000	0.71417	0.982000	0.44146	0.918000	0.54935	7.350000	0.79385	2.269000	0.75478	0.533000	0.62120	TAC		0.667	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	NM_144606		10	18	0	0	0	0.006214	0	10	18				
SEZ6	124925	broad.mit.edu	37	17	27287897	27287897	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:27287897C>A	ENST00000317338.12	-	6	1763	c.1335G>T	c.(1333-1335)tgG>tgT	p.W445C	SEZ6_ENST00000442608.3_Missense_Mutation_p.W445C|SEZ6_ENST00000335960.6_Missense_Mutation_p.W445C|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000360295.9_Missense_Mutation_p.W445C			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	445	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CCTCAAGCAGCCAGTGACAGG	0.602																																							uc002hdp.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(1333-1335)TGG>TGT		seizure related 6 homolog isoform 1							104.0	124.0	117.0					17																	27287897		2150	4256	6406	SO:0001583	missense	124925					integral to membrane|plasma membrane		g.chr17:27287897C>A	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.1335G>T	17.37:g.27287897C>A	ENSP00000312942:p.Trp445Cys					SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.W445C|SEZ6_uc002hdq.1_Missense_Mutation_p.W320C	p.W445C	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		6	1529	-	Lung NSC(42;0.0137)		445			Extracellular (Potential).|CUB 1.		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	c.1335G>T	CCDS45639.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.107917|4.107917	0.77096|0.77096	.|.	.|.	ENSG00000063015|ENSG00000063015	ENST00000539265|ENST00000442608;ENST00000360295;ENST00000317338;ENST00000335960;ENST00000541381	.|T;T;T	.|0.52754	.|0.65;0.65;0.65	4.75|4.75	4.75|4.75	0.60458|0.60458	.|CUB (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79587|0.79587	0.4471|0.4471	H|H	0.97340|0.97340	3.985|3.985	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	D|D	0.86697|0.86697	0.1927|0.1927	5|10	.|0.87932	.|D	.|0	.|.	15.6392|15.6392	0.76981|0.76981	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|445;445	.|Q53EL9-3;Q53EL9	.|.;SEZ6_HUMAN	V|C	32|445;445;320;445;445	.|ENSP00000403784:W445C;ENSP00000353440:W445C;ENSP00000337407:W445C	.|ENSP00000312942:W320C	G|W	-|-	2|3	0|0	SEZ6|SEZ6	24312023|24312023	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.313000|7.313000	0.78978|0.78978	2.638000|2.638000	0.89438|0.89438	0.313000|0.313000	0.20887|0.20887	GGC|TGG		0.602	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			44	125	1	0	5.34276e-22	0.00361	7.45679e-22	44	125				
TMEM132E	124842	broad.mit.edu	37	17	32957120	32957120	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:32957120G>T	ENST00000321639.5	+	6	1490	c.1162G>T	c.(1162-1164)Gac>Tac	p.D388Y		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	388						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCTCGTCCTGGACATCTCCGC	0.582																																							uc002hif.2		NA																	0				central_nervous_system(1)	1						c.(1162-1164)GAC>TAC		transmembrane protein 132E precursor							115.0	80.0	92.0					17																	32957120		2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32957120G>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1162G>T	17.37:g.32957120G>T	ENSP00000316532:p.Asp388Tyr						p.D388Y	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	6	1490	+			388			Extracellular (Potential).		Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.1162G>T	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252741	0.59212	.	.	ENSG00000181291	ENST00000321639	T	0.27104	1.69	4.99	4.02	0.46733	.	0.136470	0.64402	D	0.000005	T	0.50514	0.1620	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	T	0.57843	-0.7741	10	0.87932	D	0	-19.9009	12.8098	0.57634	0.0789:0.0:0.9211:0.0	.	388	Q6IEE7	T132E_HUMAN	Y	388	ENSP00000316532:D388Y	ENSP00000316532:D388Y	D	+	1	0	TMEM132E	29981233	1.000000	0.71417	0.280000	0.24747	0.304000	0.27724	9.582000	0.98214	1.475000	0.48197	0.643000	0.83706	GAC		0.582	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		6	38	1	0	8.12818e-05	0.001984	8.90886e-05	6	38				
CASC3	22794	broad.mit.edu	37	17	38319155	38319155	+	Splice_Site	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:38319155G>T	ENST00000264645.7	+	6	1011		c.e6+1			NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3						gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GGAAACCCCGGTGAGGACATT	0.517																																							uc010cwt.1		NA																	0				ovary(1)	1						c.e6+1		metastatic lymph node 51							49.0	51.0	50.0					17																	38319155		2203	4300	6503	SO:0001630	splice_region_variant	22794				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	g.chr17:38319155G>T	X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.785+1G>T	17.37:g.38319155G>T						CASC3_uc010cws.1_Splice_Site_p.R262_splice|CASC3_uc002hue.2_Splice_Site_p.R262_splice	p.R262_splice	NM_007359	NP_031385	O15234	CASC3_HUMAN			6	1080	+								A8K8R0	Splice_Site	SNP	ENST00000264645.7	37	c.785_splice	CCDS11362.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452970	0.63290	.	.	ENSG00000108349	ENST00000264645;ENST00000418132;ENST00000394114	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7211	0.91694	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CASC3	35572681	1.000000	0.71417	0.997000	0.53966	0.559000	0.35586	8.256000	0.89848	2.532000	0.85374	0.555000	0.69702	.		0.517	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359	Intron	25	38	1	0	4.72057e-08	0.003954	5.48378e-08	25	38				
C17orf53	78995	broad.mit.edu	37	17	42230076	42230076	+	Silent	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:42230076G>T	ENST00000319977.4	+	5	1617	c.1380G>T	c.(1378-1380)acG>acT	p.T460T	C17orf53_ENST00000245382.6_Intron|C17orf53_ENST00000585683.1_Silent_p.T460T	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	460										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TGAAATCCACGCTAGGCCTGG	0.562																																							uc002ifi.1		NA																	0					0						c.(1378-1380)ACG>ACT		hypothetical protein LOC78995							137.0	120.0	125.0					17																	42230076		2203	4300	6503	SO:0001819	synonymous_variant	78995							g.chr17:42230076G>T	AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.1380G>T	17.37:g.42230076G>T						C17orf53_uc010czq.1_Silent_p.T460T|C17orf53_uc002ifj.1_Intron|C17orf53_uc002ifk.1_Intron	p.T460T	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	5	1565	+		Breast(137;0.0364)|Prostate(33;0.0376)	460					A8K7A9|Q9BWM9|Q9HAI1	Silent	SNP	ENST00000319977.4	37	c.1380G>T	CCDS11477.1																																																																																				0.562	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032		40	54	1	0	4.01765e-15	0.009718	5.30221e-15	40	54				
MMD	23531	broad.mit.edu	37	17	53485141	53485141	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:53485141T>A	ENST00000262065.3	-	4	606	c.310A>T	c.(310-312)Atc>Ttc	p.I104F		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	104					cytolysis (GO:0019835)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAGAAATAGATAACCATTCTA	0.383																																							uc002iui.2		NA																	0					0						c.(310-312)ATC>TTC		monocyte to macrophage							124.0	101.0	109.0					17																	53485141		2203	4300	6503	SO:0001583	missense	23531				cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity	g.chr17:53485141T>A	X85750	CCDS11586.1	17q	2008-05-02				ENSG00000108960			7153	protein-coding gene	gene with protein product		604467				7503749, 16044242	Standard	NM_012329		Approved	MMA, PAQR11	uc002iui.3	Q15546		ENST00000262065.3:c.310A>T	17.37:g.53485141T>A	ENSP00000262065:p.Ile104Phe						p.I104F	NM_012329	NP_036461	Q15546	PAQRB_HUMAN			4	595	-			104			Helical; (Potential).		B2R6X9|D3DTY6|Q8TAN7	Missense_Mutation	SNP	ENST00000262065.3	37	c.310A>T	CCDS11586.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.008221	0.93346	.	.	ENSG00000108960	ENST00000262065	T	0.60040	0.22	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.82660	0.5085	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87568	0.2476	10	0.87932	D	0	-38.1373	15.4604	0.75353	0.0:0.0:0.0:1.0	.	104	Q15546	PAQRB_HUMAN	F	104	ENSP00000262065:I104F	ENSP00000262065:I104F	I	-	1	0	MMD	50840140	1.000000	0.71417	0.957000	0.39632	0.988000	0.76386	7.691000	0.84191	2.243000	0.73865	0.533000	0.62120	ATC		0.383	MMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439214.1			20	33	0	0	0	0.005443	0	20	33				
VEZF1	7716	broad.mit.edu	37	17	56060517	56060517	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:56060517G>A	ENST00000581208.1	-	2	311	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	VEZF1_ENST00000584396.1_Missense_Mutation_p.R82C	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	91					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GATTCGTGGCGCCTCAGGTGA	0.493																																							uc002ivf.1		NA																	0				ovary(1)|breast(1)	2						c.(271-273)CGC>TGC		zinc finger protein 161							101.0	100.0	100.0					17																	56060517		2203	4300	6503	SO:0001583	missense	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56060517G>A	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.271C>T	17.37:g.56060517G>A	ENSP00000462337:p.Arg91Cys					VEZF1_uc010dcn.1_5'UTR	p.R91C	NM_007146	NP_009077	Q14119	VEZF1_HUMAN			2	414	-			91			C2H2-type 1.			Missense_Mutation	SNP	ENST00000581208.1	37	c.271C>T	CCDS32687.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063293	0.76187	.	.	ENSG00000136451	ENST00000258963	.	.	.	5.48	5.48	0.80851	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.79997	0.4543	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.80777	-0.1231	9	0.56958	D	0.05	-4.8449	19.3617	0.94442	0.0:0.0:1.0:0.0	.	91	Q14119	VEZF1_HUMAN	C	91	.	ENSP00000258963:R91C	R	-	1	0	VEZF1	53415516	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.466000	0.97665	2.590000	0.87494	0.643000	0.83706	CGC		0.493	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			10	109	0	0	0	0.006214	0	10	109				
ST6GALNAC1	55808	broad.mit.edu	37	17	74622818	74622818	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:74622818G>A	ENST00000156626.7	-	5	1425	c.1226C>T	c.(1225-1227)tCc>tTc	p.S409F	ST6GALNAC1_ENST00000590878.1_5'Flank	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	409					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GCCGTAGAAGGATGTCCGAGT	0.527																																							uc002jsh.2		NA																	0					0						c.(1225-1227)TCC>TTC		sialyltransferase 7A							248.0	257.0	254.0					17																	74622818		2203	4300	6503	SO:0001583	missense	55808				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	g.chr17:74622818G>A	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.1226C>T	17.37:g.74622818G>A	ENSP00000156626:p.Ser409Phe					ST6GALNAC1_uc002jsi.2_Missense_Mutation_p.S277F|ST6GALNAC1_uc002jsj.2_RNA	p.S409F	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN			5	1400	-			409			Lumenal (Potential).		Q6UW90|Q9NSC6	Missense_Mutation	SNP	ENST00000156626.7	37	c.1226C>T	CCDS11748.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079803	0.76528	.	.	ENSG00000070526	ENST00000156626;ENST00000359088	T;T	0.32023	1.47;1.47	4.84	4.84	0.62591	.	0.069047	0.64402	D	0.000011	T	0.63977	0.2557	M	0.90977	3.165	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.73861	-0.3849	10	0.87932	D	0	-33.2485	16.4968	0.84247	0.0:0.0:1.0:0.0	.	409	Q9NSC7	SIA7A_HUMAN	F	409	ENSP00000156626:S409F;ENSP00000351991:S409F	ENSP00000156626:S409F	S	-	2	0	ST6GALNAC1	72134413	1.000000	0.71417	0.168000	0.22838	0.824000	0.46624	6.350000	0.73017	2.410000	0.81850	0.436000	0.28706	TCC		0.527	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414		126	249	0	0	0	0.00361	0	126	249				
EMILIN2	84034	broad.mit.edu	37	18	2847877	2847877	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr18:2847877C>A	ENST00000254528.3	+	2	364	c.205C>A	c.(205-207)Cag>Aag	p.Q69K		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	69	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GAGTTTTATTCAGGCTCAGTA	0.647																																							uc002kln.2		NA																	0				skin(2)|ovary(1)	3						c.(205-207)CAG>AAG		elastin microfibril interfacer 2 precursor							90.0	81.0	84.0					18																	2847877		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2847877C>A	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.205C>A	18.37:g.2847877C>A	ENSP00000254528:p.Gln69Lys						p.Q69K	NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	2	364	+			69			EMI.		B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.205C>A	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735730	0.89482	.	.	ENSG00000132205	ENST00000254528	T	0.42131	0.98	5.46	5.46	0.80206	EMI domain (2);	0.000000	0.64402	D	0.000012	T	0.43612	0.1255	N	0.26162	0.8	0.51767	D	0.999931	P	0.34684	0.463	P	0.46389	0.515	T	0.14980	-1.0453	10	0.16896	T	0.51	-22.4293	19.3007	0.94143	0.0:1.0:0.0:0.0	.	69	Q9BXX0	EMIL2_HUMAN	K	69	ENSP00000254528:Q69K	ENSP00000254528:Q69K	Q	+	1	0	EMILIN2	2837877	1.000000	0.71417	0.982000	0.44146	0.995000	0.86356	4.575000	0.60908	2.562000	0.86427	0.555000	0.69702	CAG		0.647	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		16	37	1	0	3.32936e-07	0.006122	3.77717e-07	16	37				
MYOM1	8736	broad.mit.edu	37	18	3089175	3089175	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr18:3089175G>T	ENST00000356443.4	-	29	4467	c.4134C>A	c.(4132-4134)tgC>tgA	p.C1378*	MYOM1_ENST00000261606.7_Nonsense_Mutation_p.C1282*|MYOM1_ENST00000400569.3_Nonsense_Mutation_p.C1378*	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1378	Ig-like C2-type 4.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTCTTACCTTGCATTTCAATA	0.318																																							uc002klp.2		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(4132-4134)TGC>TGA		myomesin 1 isoform a							72.0	66.0	68.0					18																	3089175		1809	4073	5882	SO:0001587	stop_gained	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3089175G>T	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.4134C>A	18.37:g.3089175G>T	ENSP00000348821:p.Cys1378*					MYOM1_uc002klq.2_Nonsense_Mutation_p.C1282*	p.C1378*	NM_003803	NP_003794	P52179	MYOM1_HUMAN			29	4468	-			1378			Ig-like C2-type 4.		Q14BD6|Q6H969|Q6ZUU0	Nonsense_Mutation	SNP	ENST00000356443.4	37	c.4134C>A	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	45	11.911415	0.99616	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	.	.	.	5.87	4.08	0.47627	.	0.041535	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	11.4163	0.49954	0.2058:0.0:0.7942:0.0	.	.	.	.	X	1378;1378;1282	.	ENSP00000261606:C1282X	C	-	3	2	MYOM1	3079175	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.280000	0.51677	1.487000	0.48415	0.591000	0.81541	TGC		0.318	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		9	24	1	0	0.00829132	0.008291	0.00864793	9	24				
DSG2	1829	broad.mit.edu	37	18	29125825	29125825	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr18:29125825T>G	ENST00000261590.8	+	15	2685	c.2476T>G	c.(2476-2478)Tta>Gta	p.L826V	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	826					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TGACCGCTTCTTAGATGATTT	0.383																																							uc002kwu.3		NA																	0				central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9						c.(2476-2478)TTA>GTA		desmoglein 2 preproprotein							93.0	89.0	90.0					18																	29125825		1842	4083	5925	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29125825T>G	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.2476T>G	18.37:g.29125825T>G	ENSP00000261590:p.Leu826Val					uc002kwv.3_RNA	p.L826V	NM_001943	NP_001934	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		15	2664	+			826			Cytoplasmic (Potential).		Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.2476T>G	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.642084	0.67244	.	.	ENSG00000046604	ENST00000261590	D	0.87334	-2.24	5.99	0.779	0.18550	Cadherin, cytoplasmic domain (1);	0.000000	0.44688	D	0.000429	D	0.92577	0.7642	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91563	0.5266	10	0.87932	D	0	.	10.7086	0.45969	0.0:0.4718:0.0:0.5282	.	826	Q14126	DSG2_HUMAN	V	826	ENSP00000261590:L826V	ENSP00000261590:L826V	L	+	1	2	DSG2	27379823	0.985000	0.35326	0.956000	0.39512	0.992000	0.81027	0.645000	0.24782	0.136000	0.18733	0.533000	0.62120	TTA		0.383	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		10	98	0	0	0	0.008291	0	10	98				
LINGO3	645191	broad.mit.edu	37	19	2290056	2290056	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:2290056C>A	ENST00000585527.1	-	1	1967	c.1720G>T	c.(1720-1722)Ggg>Tgg	p.G574W	LINGO3_ENST00000404279.1_Missense_Mutation_p.G574W			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	574						integral component of membrane (GO:0016021)				lung(1)|urinary_tract(1)	2						gcggccggcccATCCACCTTG	0.682																																							uc010dsx.1		NA																	0					0						c.(1720-1722)GGG>TGG		leucine rich repeat and Ig domain containing 3							7.0	10.0	9.0					19																	2290056		1780	3972	5752	SO:0001583	missense	645191					integral to membrane		g.chr19:2290056C>A	AK091795	CCDS45905.1	19p13.3	2013-01-11	2007-02-01	2007-02-01		ENSG00000220008		"""Immunoglobulin superfamily / I-set domain containing"""	21206	protein-coding gene	gene with protein product		609792	"""leucine rich repeat neuronal 6B"""	LRRN6B		14686891	Standard	NM_001101391		Approved	LERN2	uc010dsx.1	P0C6S8		ENST00000585527.1:c.1720G>T	19.37:g.2290056C>A	ENSP00000467753:p.Gly574Trp					SPPL2B_uc010dsw.1_Intron|uc002lvo.1_5'UTR	p.G574W	NM_001101391	NP_001094861	P0C6S8	LIGO3_HUMAN			2	1848	-			574			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000585527.1	37	c.1720G>T	CCDS45905.1	.	.	.	.	.	.	.	.	.	.	c	20.5	4.000595	0.74818	.	.	ENSG00000220008	ENST00000404279	T	0.60424	0.19	4.33	4.33	0.51752	.	.	.	.	.	T	0.72471	0.3464	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76629	-0.2889	9	0.87932	D	0	.	15.8092	0.78543	0.0:1.0:0.0:0.0	.	574	P0C6S8	LIGO3_HUMAN	W	574	ENSP00000384979:G574W	ENSP00000384979:G574W	G	-	1	0	LINGO3	2241056	1.000000	0.71417	0.787000	0.31911	0.853000	0.48598	7.253000	0.78320	1.944000	0.56390	0.561000	0.74099	GGG		0.682	LINGO3-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451291.2	NM_001101391		4	4	1	0	0.000602214	0.000602	0.000641921	4	4				
PNPLA6	10908	broad.mit.edu	37	19	7620649	7620649	+	Splice_Site	SNP	G	G	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:7620649G>C	ENST00000221249.6	+	27	3410	c.2979G>C	c.(2977-2979)aaG>aaC	p.K993N	PNPLA6_ENST00000545201.2_Splice_Site_p.K966N|PNPLA6_ENST00000414982.3_Splice_Site_p.K1041N|PNPLA6_ENST00000450331.3_Splice_Site_p.K993N|PNPLA6_ENST00000600737.1_Splice_Site_p.K1031N	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1032	Patatin.				angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						AGTGGGCCAAGGTGTGTGTTG	0.652																																							uc010xjq.1		NA																	0				ovary(3)	3						c.(3121-3123)AAG>AAC		neuropathy target esterase isoform b							27.0	32.0	31.0					19																	7620649		2203	4300	6503	SO:0001630	splice_region_variant	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7620649G>C	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.2979+1G>C	19.37:g.7620649G>C						PNPLA6_uc002mgq.1_Missense_Mutation_p.K993N|PNPLA6_uc010xjp.1_Missense_Mutation_p.K966N|PNPLA6_uc002mgr.1_Missense_Mutation_p.K993N|PNPLA6_uc002mgs.2_Missense_Mutation_p.K1031N|PNPLA6_uc002mgt.1_RNA	p.K1041N	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN			26	3318	+			1032			Patatin.|Cytoplasmic (Potential).		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.3123G>C	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	g	17.59	3.426968	0.62733	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	4.04	4.04	0.47022	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.111999	0.64402	D	0.000012	T	0.69611	0.3130	L	0.39692	1.235	0.80722	D	1	B;B;B;B	0.14012	0.009;0.004;0.007;0.009	B;B;B;B	0.15484	0.012;0.005;0.007;0.013	T	0.67448	-0.5668	10	0.41790	T	0.15	.	14.1484	0.65364	0.0:0.0:1.0:0.0	.	1032;966;1031;993	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	N	993;966;1041;993	ENSP00000221249:K993N;ENSP00000443323:K966N;ENSP00000407509:K1041N;ENSP00000394348:K993N	ENSP00000221249:K993N	K	+	3	2	PNPLA6	7526649	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.534000	0.73833	2.280000	0.76307	0.555000	0.69702	AAG		0.652	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702	Missense_Mutation	18	35	0	0	0	0.010504	0	18	35				
PNPLA6	10908	broad.mit.edu	37	19	7622093	7622093	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:7622093C>T	ENST00000221249.6	+	30	3637	c.3206C>T	c.(3205-3207)tCg>tTg	p.S1069L	PNPLA6_ENST00000545201.2_Missense_Mutation_p.S1042L|PNPLA6_ENST00000414982.3_Missense_Mutation_p.S1117L|PNPLA6_ENST00000450331.3_Missense_Mutation_p.S1069L|PNPLA6_ENST00000600737.1_Missense_Mutation_p.S1107L	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1108	Patatin.				angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						ATGACGCTGTCGGGCTACCTG	0.672																																							uc010xjq.1		NA																	0				ovary(3)	3						c.(3349-3351)TCG>TTG		neuropathy target esterase isoform b							61.0	54.0	56.0					19																	7622093		2203	4299	6502	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7622093C>T	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.3206C>T	19.37:g.7622093C>T	ENSP00000221249:p.Ser1069Leu					PNPLA6_uc002mgq.1_Missense_Mutation_p.S1069L|PNPLA6_uc010xjp.1_Missense_Mutation_p.S1042L|PNPLA6_uc002mgr.1_Missense_Mutation_p.S1069L|PNPLA6_uc002mgs.2_Missense_Mutation_p.S1107L|PNPLA6_uc002mgt.1_RNA	p.S1117L	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN			29	3545	+			1108			Patatin.|Cytoplasmic (Potential).		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.3350C>T	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	c	19.71	3.878408	0.72294	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	4.09	4.09	0.47781	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.241588	0.35466	N	0.003185	D	0.85128	0.5626	M	0.65677	2.01	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.999;0.996	D;P;P;P	0.66084	0.941;0.903;0.903;0.903	D	0.87118	0.2189	10	0.87932	D	0	.	13.8644	0.63578	0.0:1.0:0.0:0.0	.	1108;1042;1107;1069	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	L	1069;1042;1117;1069	ENSP00000221249:S1069L;ENSP00000443323:S1042L;ENSP00000407509:S1117L;ENSP00000394348:S1069L	ENSP00000221249:S1069L	S	+	2	0	PNPLA6	7528093	1.000000	0.71417	0.970000	0.41538	0.417000	0.31264	7.585000	0.82584	2.123000	0.65237	0.484000	0.47621	TCG		0.672	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		16	48	0	0	0	0.004007	0	16	48				
ILF3	3609	broad.mit.edu	37	19	10782177	10782177	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:10782177A>T	ENST00000590261.1	+	3	377	c.377A>T	c.(376-378)gAc>gTc	p.D126V	ILF3_ENST00000407004.3_Missense_Mutation_p.D126V|ILF3_ENST00000318511.3_Missense_Mutation_p.D126V|ILF3_ENST00000420083.1_Missense_Mutation_p.D126V|ILF3_ENST00000592763.1_Missense_Mutation_p.D126V|ILF3_ENST00000449870.1_Missense_Mutation_p.D126V|ILF3_ENST00000250241.8_Missense_Mutation_p.D126V|ILF3_ENST00000588657.1_Missense_Mutation_p.D126V|ILF3_ENST00000589998.1_Missense_Mutation_p.D126V			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	126	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GCCCTCCTGGACAAGGTGGCC	0.622																																							uc002mpn.2		NA																	0				ovary(3)	3						c.(376-378)GAC>GTC		interleukin enhancer binding factor 3 isoform a							55.0	50.0	52.0					19																	10782177		2201	4300	6501	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding	g.chr19:10782177A>T	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.377A>T	19.37:g.10782177A>T	ENSP00000468156:p.Asp126Val					ILF3_uc002mpm.2_Missense_Mutation_p.D126V|ILF3_uc002mpl.2_Missense_Mutation_p.D126V|ILF3_uc002mpk.2_Missense_Mutation_p.D126V|ILF3_uc010xli.1_Intron|ILF3_uc002mpo.2_Missense_Mutation_p.D126V	p.D126V	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		4	694	+			126			DZF.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.377A>T	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	A	18.14	3.557264	0.65425	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	5.06	5.06	0.68205	DZF (2);	0.236272	0.43110	D	0.000620	T	0.50360	0.1611	L	0.42245	1.32	0.58432	D	0.999996	P;P;P;P;P	0.48589	0.893;0.912;0.529;0.744;0.61	P;P;B;B;B	0.50049	0.496;0.629;0.173;0.215;0.107	T	0.51710	-0.8671	10	0.52906	T	0.07	.	14.2187	0.65809	1.0:0.0:0.0:0.0	.	126;126;126;126;126	G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;ILF3_HUMAN;.;.;.	V	126	ENSP00000404121:D126V;ENSP00000315205:D126V;ENSP00000405436:D126V;ENSP00000384660:D126V;ENSP00000250241:D126V	ENSP00000250241:D126V	D	+	2	0	ILF3	10643177	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.137000	0.42130	2.251000	0.74343	0.533000	0.62120	GAC		0.622	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			3	49	0	0	0	0.004672	0	3	49				
LDLR	3949	broad.mit.edu	37	19	11238726	11238726	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:11238726G>T	ENST00000558518.1	+	16	2541	c.2354G>T	c.(2353-2355)aGt>aTt	p.S785I	LDLR_ENST00000545707.1_Missense_Mutation_p.S607I|LDLR_ENST00000560628.1_Intron|LDLR_ENST00000455727.2_Missense_Mutation_p.S617I|LDLR_ENST00000557933.1_Missense_Mutation_p.S785I|LDLR_ENST00000558013.1_Missense_Mutation_p.S785I|LDLR_ENST00000535915.1_Missense_Mutation_p.S744I	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	785					cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	AAGAAGCCCAGTAGCGTGAGG	0.612																																					GBM(18;201 575 7820 21545)	GBM(18;201 575 7820 21545)	uc002mqk.3		NA																	0				ovary(2)|skin(2)	4						c.(2353-2355)AGT>ATT		low density lipoprotein receptor precursor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						121.0	101.0	108.0					19																	11238726		2203	4300	6503	SO:0001583	missense	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11238726G>T	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.2354G>T	19.37:g.11238726G>T	ENSP00000454071:p.Ser785Ile					LDLR_uc010xlk.1_Missense_Mutation_p.S785I|LDLR_uc010xll.1_Missense_Mutation_p.S744I|LDLR_uc010xlm.1_Missense_Mutation_p.S638I|LDLR_uc010xln.1_Missense_Mutation_p.S607I|LDLR_uc010xlo.1_Missense_Mutation_p.S617I|LDLR_uc010dxu.2_5'UTR	p.S785I	NM_000527	NP_000518	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	16	2522	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	785			Extracellular (Potential).		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	c.2354G>T	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	G	8.522	0.868964	0.17322	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.90788	-2.73;-2.63;-2.67	4.88	-4.12	0.03916	Growth factor, receptor (1);	4.597360	0.00859	N	0.001902	D	0.85553	0.5723	L	0.42245	1.32	0.09310	N	1	B;P;B;B;B;B	0.35821	0.04;0.523;0.043;0.021;0.072;0.012	B;B;B;B;B;B	0.33799	0.07;0.17;0.032;0.043;0.043;0.043	T	0.75448	-0.3314	10	0.40728	T	0.16	.	8.2119	0.31488	0.4151:0.1026:0.4824:0.0	.	617;607;664;744;797;785	B4DR00;B4DJZ8;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;.;LDLR_HUMAN	I	785;607;744;617	ENSP00000437639:S607I;ENSP00000440520:S744I;ENSP00000397829:S617I	ENSP00000252444:S785I	S	+	2	0	LDLR	11099726	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.411000	0.21115	-0.870000	0.04047	-2.697000	0.00138	AGT		0.612	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			40	58	1	0	4.17593e-13	0.007835	5.29498e-13	40	58				
MAST3	23031	broad.mit.edu	37	19	18255920	18255920	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:18255920G>T	ENST00000262811.6	+	23	2833	c.2833G>T	c.(2833-2835)Ggc>Tgc	p.G945C	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	945							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CCCCGTGTGTGGCAGCCTGCG	0.667																																							uc002nhz.3		NA																	0				large_intestine(2)|ovary(2)|stomach(1)	5						c.(2833-2835)GGC>TGC		microtubule associated serine/threonine kinase							74.0	81.0	79.0					19																	18255920		2025	4176	6201	SO:0001583	missense	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18255920G>T	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2833G>T	19.37:g.18255920G>T	ENSP00000262811:p.Gly945Cys						p.G945C	NM_015016	NP_055831	O60307	MAST3_HUMAN			23	2833	+			945					Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	c.2833G>T	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	G	9.330	1.060237	0.19987	.	.	ENSG00000099308	ENST00000262811	T	0.68025	-0.3	4.72	0.982	0.19762	PDZ/DHR/GLGF (1);	0.577686	0.17494	N	0.172246	T	0.45175	0.1329	N	0.19112	0.55	0.25715	N	0.985439	B	0.06786	0.001	B	0.08055	0.003	T	0.35748	-0.9776	10	0.66056	D	0.02	-22.5318	4.4433	0.11584	0.4063:0.0:0.4395:0.1542	.	945	O60307	MAST3_HUMAN	C	945	ENSP00000262811:G945C	ENSP00000262811:G945C	G	+	1	0	MAST3	18116920	0.176000	0.23096	0.983000	0.44433	0.293000	0.27360	0.374000	0.20501	0.291000	0.22468	0.313000	0.20887	GGC		0.667	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		59	82	1	0	6.3091e-27	0.00361	9.06641e-27	59	82				
RYR1	6261	broad.mit.edu	37	19	38939306	38939306	+	Silent	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:38939306C>A	ENST00000359596.3	+	11	975	c.975C>A	c.(973-975)gcC>gcA	p.A325A	RYR1_ENST00000355481.4_Silent_p.A325A|RYR1_ENST00000360985.3_Silent_p.A325A			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	325	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGGATGTGGCCCCCAAGCGGG	0.632																																							uc002oit.2		NA																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(973-975)GCC>GCA		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						72.0	75.0	74.0					19																	38939306		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38939306C>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.975C>A	19.37:g.38939306C>A						RYR1_uc002oiu.2_Silent_p.A325A	p.A325A	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		11	1105	+	all_cancers(60;7.91e-06)		325			MIR 4.|Cytoplasmic.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.975C>A	CCDS33011.1																																																																																				0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			7	85	1	0	0.00198382	0.001984	0.00209163	7	85				
AXL	558	broad.mit.edu	37	19	41765648	41765648	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:41765648C>G	ENST00000301178.4	+	20	2714	c.2524C>G	c.(2524-2526)Ccc>Gcc	p.P842A	HNRNPUL1_ENST00000595018.1_5'Flank|AXL_ENST00000593513.1_Missense_Mutation_p.P574A|AXL_ENST00000359092.3_Missense_Mutation_p.P833A|HNRNPUL1_ENST00000352456.3_5'Flank	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	842					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AGGAGCTGACCCCCCAACCCA	0.602																																							uc010ehj.2		NA																	0				lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						c.(2524-2526)CCC>GCC		AXL receptor tyrosine kinase isoform 1							70.0	59.0	63.0					19																	41765648		2203	4300	6503	SO:0001583	missense	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41765648C>G	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.2524C>G	19.37:g.41765648C>G	ENSP00000301178:p.Pro842Ala					CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_5'Flank|HNRNPUL1_uc002oqa.3_5'Flank|AXL_uc010ehk.2_Missense_Mutation_p.P833A|HNRNPUL1_uc010ehl.1_5'Flank	p.P842A	NM_021913	NP_068713	P30530	UFO_HUMAN			20	2714	+			842			Cytoplasmic (Potential).		Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	c.2524C>G	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	C	1.261	-0.615835	0.03663	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.75260	-0.92;-0.86	4.68	3.59	0.41128	.	0.070639	0.56097	D	0.000026	T	0.50922	0.1644	N	0.19112	0.55	0.26933	N	0.966414	B;B	0.25850	0.136;0.084	B;B	0.22152	0.038;0.017	T	0.33523	-0.9865	10	0.07644	T	0.81	-16.6089	7.0612	0.25127	0.0:0.5851:0.3224:0.0925	.	833;842	P30530-2;P30530	.;UFO_HUMAN	A	842;833	ENSP00000301178:P842A;ENSP00000351995:P833A	ENSP00000301178:P842A	P	+	1	0	AXL	46457488	0.805000	0.28982	0.894000	0.35097	0.951000	0.60555	1.055000	0.30467	2.414000	0.81942	0.591000	0.81541	CCC		0.602	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			3	62	0	0	0	0.004672	0	3	62				
VN1R4	317703	broad.mit.edu	37	19	53770687	53770687	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:53770687G>T	ENST00000311170.4	-	1	285	c.232C>A	c.(232-234)Ctt>Att	p.L78I	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	78					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.L78I(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		TTGCACCCAAGAGCATTGAGA	0.493										HNSCC(26;0.072)																													uc010ydu.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)	2						c.(232-234)CTT>ATT		vomeronasal 1 receptor 4							38.0	37.0	38.0					19																	53770687		2203	4300	6503	SO:0001583	missense	317703				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53770687G>T	AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.232C>A	19.37:g.53770687G>T	ENSP00000310856:p.Leu78Ile	HNSCC(26;0.072)					p.L78I	NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN		GBM - Glioblastoma multiforme(134;0.00294)	1	232	-			78			Extracellular (Potential).		Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Missense_Mutation	SNP	ENST00000311170.4	37	c.232C>A	CCDS33099.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.560032	0.00910	.	.	ENSG00000228567	ENST00000311170	T	0.08008	3.14	2.35	-4.7	0.03288	GPCR, rhodopsin-like superfamily (1);	0.727511	0.11295	N	0.578816	T	0.02083	0.0065	N	0.03029	-0.43	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.26780	-1.0093	10	0.07813	T	0.8	.	0.6798	0.00873	0.2015:0.3103:0.2432:0.2451	.	78	Q7Z5H5	VN1R4_HUMAN	I	78	ENSP00000310856:L78I	ENSP00000310856:L78I	L	-	1	0	VN1R4	58462499	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-7.898000	0.00028	-3.921000	0.00091	-0.511000	0.04467	CTT		0.493	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857		20	37	1	0	1.96292e-10	0.010504	2.39501e-10	20	37				
CACNG7	59284	broad.mit.edu	37	19	54416105	54416105	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:54416105G>T	ENST00000391767.1	+	2	232	c.20G>T	c.(19-21)cGc>cTc	p.R7L	CACNG7_ENST00000222212.2_Missense_Mutation_p.R7L|CACNG7_ENST00000391766.1_Missense_Mutation_p.R7L|CACNG7_ENST00000468076.1_Intron			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	7					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	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;0.0711)		TGCAGCAGCCGCGCCCTGACC	0.632																																							uc002qcr.1		NA																	0				ovary(1)	1						c.(19-21)CGC>CTC		voltage-dependent calcium channel gamma-7							51.0	44.0	46.0					19																	54416105		2203	4300	6503	SO:0001583	missense	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54416105G>T	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.20G>T	19.37:g.54416105G>T	ENSP00000375647:p.Arg7Leu					CACNG7_uc010era.1_Missense_Mutation_p.R7L	p.R7L	NM_031896	NP_114102	P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	1	35	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		7					Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	ENST00000391767.1	37	c.20G>T	CCDS12868.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.832419	0.91036	.	.	ENSG00000105605	ENST00000391767;ENST00000222212;ENST00000391766	T;T;T	0.79247	-0.31;-0.31;-1.25	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.72078	0.3416	L	0.29908	0.895	0.80722	D	1	P	0.46621	0.881	P	0.46510	0.519	T	0.74250	-0.3726	10	0.45353	T	0.12	-26.0334	14.6399	0.68717	0.0:0.0:1.0:0.0	.	7	P62955	CCG7_HUMAN	L	7	ENSP00000375647:R7L;ENSP00000222212:R7L;ENSP00000375646:R7L	ENSP00000222212:R7L	R	+	2	0	CACNG7	59107917	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.076000	0.50081	2.411000	0.81874	0.561000	0.74099	CGC		0.632	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			25	49	1	0	7.01153e-11	0.007291	8.66393e-11	25	49				
LILRA6	79168	broad.mit.edu	37	19	54742891	54742891	+	Missense_Mutation	SNP	C	C	A	rs369884929		TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:54742891C>A	ENST00000396365.2	-	8	1423	c.1384G>T	c.(1384-1386)Ggg>Tgg	p.G462W	LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.G445W|LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000391735.3_Intron	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	462					immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.G462W(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AACAGAATCCCGAGGAACACC	0.577																																							uc002qeu.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1384-1386)GGG>TGG		leukocyte immunoglobulin-like receptor,							110.0	101.0	104.0					19																	54742891		2176	4299	6475	SO:0001583	missense	79168					integral to membrane	receptor activity	g.chr19:54742891C>A	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1384G>T	19.37:g.54742891C>A	ENSP00000379651:p.Gly462Trp					LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Intron|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Intron|LILRA6_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Intron|LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Intron|LILRA6_uc010yeq.1_Intron|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Missense_Mutation_p.G306W	p.G462W	NM_024318	NP_077294	Q6PI73	LIRA6_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	8	1508	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		462			Helical; (Potential).			Missense_Mutation	SNP	ENST00000396365.2	37	c.1384G>T	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963807	0.34659	.	.	ENSG00000244482	ENST00000396365;ENST00000245621	T;T	0.00584	6.64;6.4	2.59	1.42	0.22433	.	2587.460000	0.00397	U	0.000040	T	0.01695	0.0054	M	0.92738	3.34	0.09310	N	0.999999	B	0.09022	0.002	B	0.01281	0.0	T	0.54289	-0.8316	10	0.87932	D	0	.	6.2135	0.20642	0.2992:0.7008:0.0:0.0	.	462	Q6PI73	LIRA6_HUMAN	W	462;445	ENSP00000379651:G462W;ENSP00000245621:G445W	ENSP00000245621:G445W	G	-	1	0	LILRA6	59434703	0.000000	0.05858	0.028000	0.17463	0.122000	0.20287	0.333000	0.19768	0.348000	0.23949	0.174000	0.16983	GGG		0.577	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		20	93	1	0	2.39556e-15	0.00278	3.18315e-15	20	93				
NLRP5	126206	broad.mit.edu	37	19	56539033	56539033	+	Silent	SNP	C	C	T	rs537345559		TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:56539033C>T	ENST00000390649.3	+	7	1434	c.1434C>T	c.(1432-1434)tgC>tgT	p.C478C		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	478	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.C478C(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTCTCATCTGCGTGGCCCTGC	0.617																																							uc002qmj.2		NA																	1	Substitution - coding silent(1)	p.C478C(1)	kidney(1)	ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(1432-1434)TGC>TGT		NACHT, LRR and PYD containing protein 5							31.0	35.0	34.0					19																	56539033		2127	4236	6363	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539033C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1434C>T	19.37:g.56539033C>T						NLRP5_uc002qmi.2_Silent_p.C459C	p.C478C	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1434	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	478			NACHT.		A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.1434C>T	CCDS12938.1																																																																																				0.617	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		9	25	0	0	0	0.006214	0	9	25				
ZNF835	90485	broad.mit.edu	37	19	57184245	57184245	+	5'Flank	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:57184245A>T	ENST00000537055.2	-	0	0				AC007228.5_ENST00000599726.1_lincRNA|AC007228.9_ENST00000602145.1_lincRNA	NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AGAAAAAGACATCATTCTGGA	0.468																																							uc010ygo.1		NA																	0				pancreas(3)|skin(1)	4						c.(1-3)ATG>AAG		zinc finger protein 835							76.0	68.0	70.0					19																	57184245		1856	4097	5953	SO:0001631	upstream_gene_variant	90485							g.chr19:57184245A>T	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0			19.37:g.57184245A>T	Exception_encountered					ZNF835_uc010ygn.1_5'Flank	p.M1K	NM_001005850	NP_001005850					1	2	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.2T>A	CCDS56105.1																																																																																				0.468	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		13	24	0	0	0	0.001855	0	13	24				
PEG3	5178	broad.mit.edu	37	19	57327218	57327218	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:57327218A>T	ENST00000326441.9	-	10	2955	c.2592T>A	c.(2590-2592)taT>taA	p.Y864*	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Nonsense_Mutation_p.Y864*|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Nonsense_Mutation_p.Y740*|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Nonsense_Mutation_p.Y738*	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	864					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGTCTGAGATATAAATGGAGG	0.428																																							uc002qnu.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(2590-2592)TAT>TAA		paternally expressed 3 isoform 1							104.0	99.0	101.0					19																	57327218		2203	4300	6503	SO:0001587	stop_gained	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327218A>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2592T>A	19.37:g.57327218A>T	ENSP00000326581:p.Tyr864*					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Nonsense_Mutation_p.Y835*|PEG3_uc002qnv.2_Nonsense_Mutation_p.Y864*|PEG3_uc002qnw.2_Nonsense_Mutation_p.Y740*|PEG3_uc002qnx.2_Nonsense_Mutation_p.Y738*|PEG3_uc010etr.2_Nonsense_Mutation_p.Y864*	p.Y864*	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	2943	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	864					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Nonsense_Mutation	SNP	ENST00000326441.9	37	c.2592T>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	A	38	7.246724	0.98161	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	.	.	.	3.86	-1.99	0.07457	.	0.188133	0.26383	N	0.024700	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.3216	11.2603	0.49078	0.3563:0.0:0.6437:0.0	.	.	.	.	X	864	.	ENSP00000326581:Y864X	Y	-	3	2	ZIM2	62019030	0.000000	0.05858	0.000000	0.03702	0.585000	0.36419	-1.135000	0.03225	-0.525000	0.06391	0.482000	0.46254	TAT		0.428	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			31	64	0	0	0	0.002836	0	31	64				
ZSCAN1	284312	broad.mit.edu	37	19	58565111	58565111	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:58565111T>A	ENST00000282326.1	+	6	1166	c.919T>A	c.(919-921)Ttc>Atc	p.F307I		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	307					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGTCACCCACTTCATCGAGCA	0.632																																							uc002qrc.1		NA																	0				ovary(2)	2						c.(919-921)TTC>ATC		zinc finger and SCAN domain containing 1							75.0	66.0	69.0					19																	58565111		2203	4300	6503	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58565111T>A	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.919T>A	19.37:g.58565111T>A	ENSP00000282326:p.Phe307Ile						p.F307I	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	6	1166	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	307			C2H2-type 1.		Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.919T>A	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	T	12.67	2.008928	0.35415	.	.	ENSG00000152467	ENST00000282326	T	0.28069	1.63	1.38	-0.848	0.10727	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34366	0.0895	L	0.39633	1.23	0.45541	D	0.998499	P	0.52170	0.951	P	0.58970	0.849	T	0.15838	-1.0423	9	0.54805	T	0.06	.	5.9707	0.19351	0.0:0.611:0.0:0.389	.	307	Q8NBB4	ZSCA1_HUMAN	I	307	ENSP00000282326:F307I	ENSP00000282326:F307I	F	+	1	0	ZSCAN1	63256923	0.007000	0.16637	0.004000	0.12327	0.030000	0.12068	-0.226000	0.09139	-0.363000	0.08101	-0.415000	0.06103	TTC		0.632	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		24	56	0	0	0	0.00278	0	24	56				
ZSCAN18	65982	broad.mit.edu	37	19	58596165	58596165	+	Missense_Mutation	SNP	C	C	A	rs200894425	byFrequency	TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:58596165C>A	ENST00000240727.6	-	7	1819	c.1420G>T	c.(1420-1422)Gcc>Tcc	p.A474S	ZSCAN18_ENST00000421612.2_Missense_Mutation_p.A338S|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A530S|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A474S	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	474					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGGCCCCGGGCGCCCCCCAGC	0.716																																							uc002qri.2		NA																	0					0						c.(1420-1422)GCC>TCC		zinc finger and SCAN domain containing 18							15.0	16.0	16.0					19																	58596165		2158	4229	6387	SO:0001583	missense	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58596165C>A	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.1420G>T	19.37:g.58596165C>A	ENSP00000240727:p.Ala474Ser					ZSCAN18_uc002qrj.3_Missense_Mutation_p.A473S|ZSCAN18_uc010yhs.1_Missense_Mutation_p.A338S|ZSCAN18_uc002qrh.2_Missense_Mutation_p.A474S|ZSCAN18_uc010yht.1_Missense_Mutation_p.A530S|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	p.A474S	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	7	1729	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	474					B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	ENST00000240727.6	37	c.1420G>T	CCDS12971.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.352978	0.24512	.	.	ENSG00000121413	ENST00000433686;ENST00000240727;ENST00000421612	T;T	0.02472	4.54;4.28	2.34	0.125	0.14718	.	0.472468	0.15704	N	0.248743	T	0.01695	0.0054	N	0.17082	0.46	0.09310	N	1	P;B;P;B	0.38788	0.515;0.373;0.647;0.19	B;B;B;B	0.36335	0.11;0.098;0.222;0.062	T	0.51140	-0.8743	10	0.20519	T	0.43	-2.8502	6.7192	0.23321	0.0:0.7392:0.0:0.2608	.	530;338;473;474	B4DG23;E9PBI0;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	S	530;474;338	ENSP00000240727:A474S;ENSP00000392653:A338S	ENSP00000240727:A474S	A	-	1	0	ZSCAN18	63287977	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.035000	0.12205	0.099000	0.17552	-1.069000	0.02264	GCC		0.716	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		3	6	1	0	0.004672	0.004672	0.00489929	3	6				
ZSCAN18	65982	broad.mit.edu	37	19	58596514	58596514	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:58596514C>A	ENST00000240727.6	-	7	1470	c.1071G>T	c.(1069-1071)caG>caT	p.Q357H	ZSCAN18_ENST00000421612.2_Missense_Mutation_p.Q221H|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.Q413H|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.Q357H	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	357					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCGGGGCAGGCTGCTGGATGA	0.701																																							uc002qri.2		NA																	0					0						c.(1069-1071)CAG>CAT		zinc finger and SCAN domain containing 18							19.0	22.0	21.0					19																	58596514		2200	4293	6493	SO:0001583	missense	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58596514C>A	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.1071G>T	19.37:g.58596514C>A	ENSP00000240727:p.Gln357His					ZSCAN18_uc002qrj.3_Missense_Mutation_p.Q356H|ZSCAN18_uc010yhs.1_Missense_Mutation_p.Q221H|ZSCAN18_uc002qrh.2_Missense_Mutation_p.Q357H|ZSCAN18_uc010yht.1_Missense_Mutation_p.Q413H|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	p.Q357H	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	7	1380	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	357					B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	ENST00000240727.6	37	c.1071G>T	CCDS12971.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.490842	0.26774	.	.	ENSG00000121413	ENST00000433686;ENST00000240727;ENST00000421612	T;T	0.02631	4.52;4.22	3.34	-0.217	0.13149	.	1.485140	0.04394	N	0.363013	T	0.02929	0.0087	N	0.24115	0.695	0.09310	N	1	P;P;P;P	0.49090	0.868;0.868;0.919;0.868	B;B;B;B	0.42851	0.306;0.4;0.366;0.201	T	0.46331	-0.9199	10	0.37606	T	0.19	-1.9765	7.0804	0.25227	0.0:0.5723:0.3266:0.1011	.	413;221;356;357	B4DG23;E9PBI0;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	H	413;357;221	ENSP00000240727:Q357H;ENSP00000392653:Q221H	ENSP00000240727:Q357H	Q	-	3	2	ZSCAN18	63288326	0.000000	0.05858	0.031000	0.17742	0.004000	0.04260	-1.632000	0.02024	0.064000	0.16427	-0.305000	0.09177	CAG		0.701	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		9	16	1	0	7.03913e-09	0.001368	8.42957e-09	9	16				
KCNF1	3754	broad.mit.edu	37	2	11053919	11053919	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr2:11053919C>A	ENST00000295082.1	+	1	1857	c.1367C>A	c.(1366-1368)cCt>cAt	p.P456H		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	456					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCTCCAGAGCCTGCGGGGAAG	0.677																																							uc002rax.2		NA																	0				ovary(1)	1						c.(1366-1368)CCT>CAT		potassium voltage-gated channel, subfamily F,							18.0	23.0	21.0					2																	11053919		2201	4294	6495	SO:0001583	missense	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11053919C>A	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.1367C>A	2.37:g.11053919C>A	ENSP00000295082:p.Pro456His						p.P456H	NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	1857	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		456			Cytoplasmic (Potential).		O43527|Q585L3	Missense_Mutation	SNP	ENST00000295082.1	37	c.1367C>A	CCDS1676.1	.	.	.	.	.	.	.	.	.	.	C	1.895	-0.454633	0.04540	.	.	ENSG00000162975	ENST00000295082	D	0.98012	-4.66	5.61	1.59	0.23543	.	94.634800	0.00166	N	0.000009	D	0.92841	0.7723	N	0.08118	0	0.09310	N	1	B	0.25169	0.119	B	0.26517	0.07	D	0.88144	0.2846	10	0.46703	T	0.11	.	3.6716	0.08276	0.1595:0.443:0.3096:0.0878	.	456	Q9H3M0	KCNF1_HUMAN	H	456	ENSP00000295082:P456H	ENSP00000295082:P456H	P	+	2	0	KCNF1	10971370	0.009000	0.17119	0.515000	0.27774	0.047000	0.14425	1.513000	0.35823	0.833000	0.34828	-0.165000	0.13383	CCT		0.677	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		13	24	1	0	3.27435e-08	0.00245	3.84984e-08	13	24				
C2orf16	84226	broad.mit.edu	37	2	27802438	27802438	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr2:27802438C>T	ENST00000408964.2	+	1	3050	c.2999C>T	c.(2998-3000)aCa>aTa	p.T1000I	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1000						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATAAAGAAGACAAACTCAACG	0.443																																							uc002rkz.3		NA																	0				large_intestine(1)	1						c.(2998-3000)ACA>ATA		hypothetical protein LOC84226							98.0	97.0	98.0					2																	27802438		2027	4186	6213	SO:0001583	missense	84226							g.chr2:27802438C>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.2999C>T	2.37:g.27802438C>T	ENSP00000386190:p.Thr1000Ile						p.T1000I	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	3050	+	Acute lymphoblastic leukemia(172;0.155)		1000					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.2999C>T	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	8.678	0.904410	0.17760	.	.	ENSG00000221843	ENST00000408964	T	0.11712	2.75	4.6	-2.84	0.05751	.	.	.	.	.	T	0.05777	0.0151	L	0.27053	0.805	0.09310	N	1	B	0.29432	0.244	B	0.24848	0.056	T	0.36286	-0.9754	9	0.51188	T	0.08	.	2.2641	0.04074	0.1566:0.2685:0.396:0.1788	.	1000	Q68DN1	CB016_HUMAN	I	1000	ENSP00000386190:T1000I	ENSP00000386190:T1000I	T	+	2	0	C2orf16	27655942	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.817000	0.04472	-0.405000	0.07599	0.313000	0.20887	ACA		0.443	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		21	55	0	0	0	0.001882	0	21	55				
XDH	7498	broad.mit.edu	37	2	31621491	31621491	+	Silent	SNP	C	C	A	rs533862128		TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr2:31621491C>A	ENST00000379416.3	-	5	429	c.381G>T	c.(379-381)ctG>ctT	p.L127L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	127					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GATTCCGGAGCAGTGTGTACA	0.547																																					Colon(66;682 1445 30109 40147)	Colon(66;682 1445 30109 40147)	uc002rnv.1		NA																	0				skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(379-381)CTG>CTT		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						136.0	131.0	133.0					2																	31621491		2203	4300	6503	SO:0001819	synonymous_variant	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31621491C>A	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.381G>T	2.37:g.31621491C>A							p.L127L	NM_000379	NP_000370	P47989	XDH_HUMAN			5	460	-	Acute lymphoblastic leukemia(172;0.155)		127					Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	c.381G>T	CCDS1775.1																																																																																				0.547	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		51	91	1	0	2.81731e-22	0.00361	3.96056e-22	51	91				
FSHR	2492	broad.mit.edu	37	2	49217720	49217720	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr2:49217720A>T	ENST00000406846.2	-	5	550	c.431T>A	c.(430-432)cTc>cAc	p.L144H	FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000346173.3_Missense_Mutation_p.L144H|FSHR_ENST00000304421.4_Missense_Mutation_p.L144H|FSHR_ENST00000469138.1_5'UTR	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	144					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	AACTTTTTGGAGAGAATGAAT	0.383									Gonadal Dysgenesis, 46 XX																														uc002rww.2		NA																	0				ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(430-432)CTC>CAC		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						142.0	152.0	149.0					2																	49217720		2203	4300	6503	SO:0001583	missense	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49217720A>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.431T>A	2.37:g.49217720A>T	ENSP00000384708:p.Leu144His					FSHR_uc002rwx.2_Missense_Mutation_p.L144H|FSHR_uc010fbn.2_Missense_Mutation_p.L144H|FSHR_uc010fbo.1_RNA	p.L144H	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		5	505	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	144			LRR 5.|Extracellular (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.431T>A	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	A	8.518	0.867980	0.17250	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000454032	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.15	3.98	0.46160	.	0.362010	0.28989	N	0.013498	T	0.76800	0.4038	L	0.51422	1.61	0.80722	D	1	B;B;B	0.17667	0.023;0.005;0.013	B;B;B	0.21360	0.034;0.005;0.015	T	0.68788	-0.5316	9	.	.	.	.	10.3505	0.43931	0.8527:0.0:0.0:0.1473	.	144;144;144	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	H	144	ENSP00000384708:L144H;ENSP00000333908:L144H;ENSP00000306780:L144H;ENSP00000415504:L144H	.	L	-	2	0	FSHR	49071224	0.985000	0.35326	0.989000	0.46669	0.777000	0.43975	5.874000	0.69652	0.944000	0.37579	-0.468000	0.05107	CTC		0.383	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			29	67	0	0	0	0.007291	0	29	67				
SNRNP200	23020	broad.mit.edu	37	2	96949346	96949346	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr2:96949346G>A	ENST00000323853.5	-	33	4767	c.4690C>T	c.(4690-4692)Ccg>Tcg	p.P1564S	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1564	Helicase C-terminal 2. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.P1564S(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TTGCGAGACGGCACAAAGACA	0.582																																							uc002svu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|large_intestine(1)	10						c.(4690-4692)CCG>TCG		activating signal cointegrator 1 complex subunit							174.0	165.0	168.0					2																	96949346		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96949346G>A	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.4690C>T	2.37:g.96949346G>A	ENSP00000317123:p.Pro1564Ser					SNRNP200_uc002svt.2_Missense_Mutation_p.P174S|SNRNP200_uc010yuj.1_RNA|SNRNP200_uc002svv.1_Missense_Mutation_p.P91S	p.P1564S	NM_014014	NP_054733	O75643	U520_HUMAN			33	4776	-			1564			Helicase C-terminal 2.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.4690C>T	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.581439	0.65992	.	.	ENSG00000144028	ENST00000323853;ENST00000536601;ENST00000543553	D	0.86694	-2.16	5.0	5.0	0.66597	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82628	0.5078	L	0.31207	0.915	0.80722	D	1	P;B	0.39847	0.691;0.017	B;B	0.40228	0.323;0.027	D	0.83797	0.0234	10	0.46703	T	0.11	-12.1656	17.4484	0.87585	0.0:0.0:1.0:0.0	.	1315;1564	A4FU77;O75643	.;U520_HUMAN	S	1564;23;147	ENSP00000317123:P1564S	ENSP00000317123:P1564S	P	-	1	0	SNRNP200	96313073	1.000000	0.71417	0.179000	0.23059	0.984000	0.73092	6.295000	0.72744	2.488000	0.83962	0.563000	0.77884	CCG		0.582	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		5	135	0	0	0	0.000602	0	5	135				
SMPD4	55627	broad.mit.edu	37	2	130912768	130912768	+	Missense_Mutation	SNP	C	C	G	rs138491461		TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr2:130912768C>G	ENST00000409031.1	-	15	2619	c.1471G>C	c.(1471-1473)Gcg>Ccg	p.A491P	SMPD4_ENST00000453750.1_Missense_Mutation_p.A240P|SMPD4_ENST00000431183.2_Missense_Mutation_p.A389P|SMPD4_ENST00000473720.1_5'Flank|SMPD4_ENST00000452225.2_Missense_Mutation_p.A232P|SMPD4_ENST00000426662.2_Missense_Mutation_p.A127P|SMPD4_ENST00000443958.2_Missense_Mutation_p.A155P|SMPD4_ENST00000351288.6_Missense_Mutation_p.A462P|SMPD4_ENST00000339679.7_Missense_Mutation_p.A349P	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	452					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GTGCGGAGCGCGCGGTTCAGA	0.602																																							uc002tqq.1		NA																	0					0						c.(1471-1473)GCG>CCG		sphingomyelin phosphodiesterase 4 isoform 2	Phosphatidylserine(DB00144)						96.0	89.0	92.0					2																	130912768		2203	4300	6503	SO:0001583	missense	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130912768C>G	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.1471G>C	2.37:g.130912768C>G	ENSP00000386531:p.Ala491Pro					SMPD4_uc002tqo.1_5'UTR|SMPD4_uc002tqp.1_Missense_Mutation_p.A230P|SMPD4_uc010yzy.1_Missense_Mutation_p.A240P|SMPD4_uc010yzz.1_Missense_Mutation_p.A155P|SMPD4_uc002tqr.1_Missense_Mutation_p.A462P|SMPD4_uc002tqs.1_Missense_Mutation_p.A359P|SMPD4_uc002tqt.1_Missense_Mutation_p.A340P|SMPD4_uc010zaa.1_Missense_Mutation_p.A349P|SMPD4_uc010zab.1_Missense_Mutation_p.A389P|SMPD4_uc010zac.1_Missense_Mutation_p.A232P|SMPD4_uc010zad.1_Missense_Mutation_p.A127P	p.A491P	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN			15	1991	-	Colorectal(110;0.1)		452					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	ENST00000409031.1	37	c.1471G>C	CCDS42751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.51|13.51	2.259311|2.259311	0.39995|0.39995	.|.	.|.	ENSG00000136699|ENSG00000136699	ENST00000351288;ENST00000409031;ENST00000431183;ENST00000453750;ENST00000443958;ENST00000339679;ENST00000452225;ENST00000426662;ENST00000457039;ENST00000449159;ENST00000451542|ENST00000430682	.|.	.|.	.|.	4.24|4.24	4.24|4.24	0.50183|0.50183	.|.	0.174594|.	0.48767|.	D|.	0.000165|.	T|T	0.71221|0.71221	0.3314|0.3314	M|M	0.68952|0.68952	2.095|2.095	0.44061|0.44061	D|D	0.996802|0.996802	D;D;D;D;D;D;D;D;D|.	0.89917|.	0.998;0.999;1.0;1.0;1.0;1.0;0.997;0.995;1.0|.	D;D;D;D;D;D;D;D;D|.	0.87578|.	0.973;0.977;0.993;0.99;0.98;0.968;0.969;0.954;0.998|.	T|T	0.72033|0.72033	-0.4412|-0.4412	9|5	0.41790|.	T|.	0.15|.	.|.	14.1436|14.1436	0.65336|0.65336	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	127;232;389;349;240;423;452;491;498|.	B4E0L6;B4DQ31;E7ESA2;B4E0T5;B4DM23;Q9NXE4-2;Q9NXE4;B1PBA3;Q9NXE4-4|.	.;.;.;.;.;.;NSMA3_HUMAN;.;.|.	P|P	462;491;389;240;155;349;232;127;88;27;233|172	.|.	ENSP00000339721:A349P|.	A|R	-|-	1|2	0|0	SMPD4|SMPD4	130629238|130629238	0.999000|0.999000	0.42202|0.42202	0.151000|0.151000	0.22473|0.22473	0.098000|0.098000	0.18820|0.18820	4.346000|4.346000	0.59367|0.59367	1.886000|1.886000	0.54624|0.54624	0.305000|0.305000	0.20034|0.20034	GCG|CGC		0.602	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	NM_017751		17	43	0	0	0	0.004007	0	17	43				
THSD7B	80731	broad.mit.edu	37	2	138163263	138163263	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr2:138163263G>T	ENST00000409968.1	+	13	2759	c.2581G>T	c.(2581-2583)Gtg>Ttg	p.V861L	THSD7B_ENST00000413152.2_Missense_Mutation_p.V830L|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.V861L			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	861	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCCTCTCCTTGTGCAAGAATG	0.493																																							uc002tva.1		NA																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(2488-2490)GTG>TTG		thrombospondin, type I, domain containing 7B							73.0	75.0	74.0					2																	138163263		2013	4178	6191	SO:0001583	missense	80731							g.chr2:138163263G>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2581G>T	2.37:g.138163263G>T	ENSP00000387145:p.Val861Leu					THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.V720L	p.V830L	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	12	2488	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.2488G>T		.	.	.	.	.	.	.	.	.	.	G	14.41	2.526717	0.44969	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.60672	0.17;0.17;0.17	5.68	3.78	0.43462	.	0.185120	0.48767	D	0.000171	T	0.42720	0.1215	L	0.38838	1.175	0.80722	D	1	B;B	0.15141	0.012;0.012	B;B	0.15870	0.014;0.008	T	0.22417	-1.0217	10	0.10902	T	0.67	.	11.0049	0.47629	0.0699:0.1296:0.8005:0.0	.	861;830	Q9C0I4;C9JKN6	THS7B_HUMAN;.	L	861;861;830	ENSP00000387145:V861L;ENSP00000272643:V861L;ENSP00000413841:V830L	ENSP00000272643:V861L	V	+	1	0	THSD7B	137879733	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.936000	0.63506	1.406000	0.46857	0.655000	0.94253	GTG		0.493	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		10	36	1	0	0.000442599	0.006214	0.000474388	10	36				
CRYGC	1420	broad.mit.edu	37	2	208994322	208994322	+	Missense_Mutation	SNP	C	C	A	rs564915343		TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr2:208994322C>A	ENST00000282141.3	-	2	132	c.95G>T	c.(94-96)cGc>cTc	p.R32L		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	32	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GGAGTTGCAGCGGCTGAAATA	0.582																																							uc002vco.3		NA																	0					0						c.(94-96)CGC>CTC		crystallin, gamma C							89.0	98.0	95.0					2																	208994322		2203	4300	6503	SO:0001583	missense	1420				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens	g.chr2:208994322C>A		CCDS2379.1	2q33.3	2013-02-14			ENSG00000163254	ENSG00000163254			2410	protein-coding gene	gene with protein product		123680		CRYG3			Standard	NM_020989		Approved		uc002vco.4	P07315	OTTHUMG00000132942	ENST00000282141.3:c.95G>T	2.37:g.208994322C>A	ENSP00000282141:p.Arg32Leu						p.R32L	NM_020989	NP_066269	P07315	CRGC_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)	2	133	-			32			Beta/gamma crystallin 'Greek key' 1.		Q53R50	Missense_Mutation	SNP	ENST00000282141.3	37	c.95G>T	CCDS2379.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536284	0.45176	.	.	ENSG00000163254	ENST00000282141	T	0.77620	-1.11	4.98	3.16	0.36331	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.057964	0.64402	D	0.000002	D	0.86628	0.5978	H	0.96604	3.85	0.45567	D	0.998518	P	0.38250	0.624	P	0.45829	0.494	D	0.88139	0.2843	10	0.87932	D	0	.	9.162	0.37028	0.0:0.8207:0.0:0.1793	.	32	P07315	CRGC_HUMAN	L	32	ENSP00000282141:R32L	ENSP00000282141:R32L	R	-	2	0	CRYGC	208702567	1.000000	0.71417	1.000000	0.80357	0.056000	0.15407	1.278000	0.33179	1.238000	0.43771	-0.369000	0.07265	CGC		0.582	CRYGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256474.1	NM_020989		59	113	1	0	2.08403e-16	0.00361	2.82728e-16	59	113				
DES	1674	broad.mit.edu	37	2	220285261	220285261	+	Silent	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr2:220285261G>A	ENST00000373960.3	+	4	866	c.780G>A	c.(778-780)caG>caA	p.Q260Q		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	260	Linker 12.|Rod.				cytoskeleton organization (GO:0007010)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart contraction (GO:0008016)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		AGCAGGTCCAGGTGGAGATGG	0.582																																							uc002vll.2		NA																	0				central_nervous_system(2)	2						c.(778-780)CAG>CAA		desmin							62.0	57.0	58.0					2																	220285261		2203	4300	6503	SO:0001819	synonymous_variant	1674				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton	g.chr2:220285261G>A	AF521879	CCDS33383.1	2q35	2014-09-17			ENSG00000175084	ENSG00000175084		"""Intermediate filaments type III"""	2770	protein-coding gene	gene with protein product	"""intermediate filament protein"""	125660				2673923, 9736733	Standard	NM_001927		Approved	CMD1I, CSM1, CSM2	uc002vll.3	P17661	OTTHUMG00000058924	ENST00000373960.3:c.780G>A	2.37:g.220285261G>A							p.Q260Q	NM_001927	NP_001918	P17661	DESM_HUMAN		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)	4	866	+		Renal(207;0.0183)	260			Rod.|Linker 12.		Q15787|Q549R7|Q549R8|Q549R9|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80	Silent	SNP	ENST00000373960.3	37	c.780G>A	CCDS33383.1																																																																																				0.582	DES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130240.1	NM_001927		20	23	0	0	0	0.008871	0	20	23				
SIRPB1	10326	broad.mit.edu	37	20	1600516	1600516	+	Splice_Site	SNP	T	T	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr20:1600516T>G	ENST00000381605.4	-	1	139	c.75A>C	c.(73-75)acA>acC	p.T25T	SIRPB1_ENST00000381603.3_Splice_Site_p.T25T|SIRPB1_ENST00000568365.1_Splice_Site_p.T25T|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000279477.7_Splice_Site_p.T25T|RP4-576H24.4_ENST00000564763.1_Splice_Site_p.T25T	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	25					cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						AGTGCTCACCTGTGAGTCTCC	0.567																																							uc010gai.2		NA																	0				ovary(1)	1						c.(73-75)ACA>ACC		signal-regulatory protein beta 1 isoform 1							96.0	86.0	89.0					20																	1600516		2203	4300	6503	SO:0001630	splice_region_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1600516T>G	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+1A>C	20.37:g.1600516T>G						SIRPB1_uc002wfk.3_Silent_p.T25T|SIRPB1_uc002wfl.3_Silent_p.T25T	p.T25T	NM_006065	NP_006056	O00241	SIRB1_HUMAN			1	174	-			25					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Silent	SNP	ENST00000381605.4	37	c.75A>C	CCDS13019.1																																																																																				0.567	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065	Silent	25	69	0	0	0	0.005443	0	25	69				
EIF6	3692	broad.mit.edu	37	20	33867858	33867858	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr20:33867858G>A	ENST00000374450.3	-	5	697	c.433C>T	c.(433-435)Cag>Tag	p.Q145*	EDEM2_ENST00000540582.1_5'Flank|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000456790.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|EIF6_ENST00000374436.3_Nonsense_Mutation_p.Q145*|MMP24-AS1_ENST00000566203.2_RNA|RP4-614O4.11_ENST00000444717.1_RNA|EIF6_ENST00000374443.3_Nonsense_Mutation_p.Q126*|EIF6_ENST00000462894.1_5'Flank|MMP24-AS1_ENST00000424358.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000455178.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000435366.1_RNA	NM_002212.3	NP_002203.1			eukaryotic translation initiation factor 6											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ACTAGCACCTGGTCGGCCACT	0.488																																							uc002xbv.1		NA																	0				pancreas(1)	1						c.(433-435)CAG>TAG		eukaryotic translation initiation factor 6							150.0	144.0	146.0					20																	33867858		2203	4300	6503	SO:0001587	stop_gained	3692				mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity	g.chr20:33867858G>A	Y11435	CCDS13249.1, CCDS13250.1	20q11.2	2008-01-18	2007-07-27	2007-07-27	ENSG00000242372	ENSG00000242372			6159	protein-coding gene	gene with protein product		602912	"""integrin beta 4 binding protein"""	EIF3A, ITGB4BP		9374518, 9740680	Standard	NM_181468		Approved	p27BBP, b(2)gcn	uc002xbz.2	P56537	OTTHUMG00000032328	ENST00000374450.3:c.433C>T	20.37:g.33867858G>A	ENSP00000363574:p.Gln145*					EDEM2_uc010zuv.1_5'Flank|EIF6_uc002xbx.1_Nonsense_Mutation_p.Q145*|EIF6_uc002xbz.1_Nonsense_Mutation_p.Q126*|EIF6_uc002xby.1_RNA	p.Q145*	NM_181468	NP_852133	P56537	IF6_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	649	-			145						Nonsense_Mutation	SNP	ENST00000374450.3	37	c.433C>T	CCDS13249.1	.	.	.	.	.	.	.	.	.	.	G	37	6.524497	0.97637	.	.	ENSG00000242372	ENST00000374436;ENST00000374443;ENST00000374450	.	.	.	5.01	5.01	0.66863	.	0.122832	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-0.3603	15.8971	0.79344	0.0:0.0:1.0:0.0	.	.	.	.	X	145;126;145	.	ENSP00000363559:Q145X	Q	-	1	0	EIF6	33331272	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.562000	0.98145	2.525000	0.85131	0.555000	0.69702	CAG		0.488	EIF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078848.3	NM_002212		220	85	0	0	0	0.00361	0	220	85				
TCFL5	10732	broad.mit.edu	37	20	61488943	61488943	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr20:61488943G>A	ENST00000335351.3	-	4	1134	c.1042C>T	c.(1042-1044)Cgt>Tgt	p.R348C	TCFL5_ENST00000217162.5_Missense_Mutation_p.R300C	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	348	R3 epitope (recognized by Chagas's antibodies).				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R348C(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					TCCAACTGACGCATTCTACTC	0.463																																							uc002ydp.2		NA																	1	Substitution - Missense(1)		endometrium(1)	large_intestine(1)	1						c.(1042-1044)CGT>TGT		transcription factor-like 5 protein							101.0	91.0	94.0					20																	61488943		2203	4300	6503	SO:0001583	missense	10732				cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:61488943G>A	AB012124	CCDS13506.1	20q13.33	2013-09-19			ENSG00000101190	ENSG00000101190		"""Basic helix-loop-helix proteins"""	11646	protein-coding gene	gene with protein product	"""HPV-16 E2 binding protein 1"""	604745				9763657	Standard	XM_005260185		Approved	Figlb, E2BP-1, CHA, bHLHe82	uc002ydp.3	Q9UL49	OTTHUMG00000032939	ENST00000335351.3:c.1042C>T	20.37:g.61488943G>A	ENSP00000334294:p.Arg348Cys					TCFL5_uc002ydo.2_Missense_Mutation_p.R121C|TCFL5_uc002ydq.2_Missense_Mutation_p.R347C	p.R348C	NM_006602	NP_006593	Q9UL49	TCFL5_HUMAN			4	1135	-	Breast(26;5.68e-08)		348			R3 epitope (recognized by Chagas's antibodies).		O94771|Q9BYW0	Missense_Mutation	SNP	ENST00000335351.3	37	c.1042C>T	CCDS13506.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072442	0.55646	.	.	ENSG00000101190	ENST00000335351;ENST00000217162	T;T	0.35605	1.31;1.3	5.31	5.31	0.75309	.	0.240906	0.29916	N	0.010867	T	0.46054	0.1373	L	0.32530	0.975	0.32863	D	0.508239	D;D	0.76494	0.999;0.999	P;P	0.60682	0.878;0.759	T	0.58183	-0.7681	10	0.87932	D	0	-7.3277	14.8197	0.70062	0.0:0.0:0.8469:0.1531	.	300;348	F8W9A4;Q9UL49	.;TCFL5_HUMAN	C	348;300	ENSP00000334294:R348C;ENSP00000217162:R300C	ENSP00000217162:R300C	R	-	1	0	TCFL5	60959388	0.997000	0.39634	0.926000	0.36857	0.984000	0.73092	4.423000	0.59861	2.497000	0.84241	0.585000	0.79938	CGT		0.463	TCFL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080079.2	NM_006602		40	278	0	0	0	0.007835	0	40	278				
MYT1	4661	broad.mit.edu	37	20	62831276	62831276	+	Splice_Site	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr20:62831276G>T	ENST00000328439.1	+	4	450		c.e4+1		MYT1_ENST00000536311.1_Splice_Site|MYT1_ENST00000360149.4_Splice_Site	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1						G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CAGACCTCAGGTAAGGAAGTC	0.483																																					GBM(59;481 1041 20555 21139 33705)	GBM(59;481 1041 20555 21139 33705)	uc002yii.2		NA																	0				ovary(2)	2						c.e4+1		myelin transcription factor 1							203.0	180.0	187.0					20																	62831276		2203	4300	6503	SO:0001630	splice_region_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62831276G>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.86+1G>T	20.37:g.62831276G>T						MYT1_uc002yih.2_Splice_Site_p.S29_splice	p.S29_splice	NM_004535	NP_004526	Q01538	MYT1_HUMAN			4	450	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)							B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Splice_Site	SNP	ENST00000328439.1	37	c.86_splice	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876640	0.72180	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.246	0.65988	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYT1	62301720	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.537000	0.60643	2.491000	0.84063	0.655000	0.94253	.		0.483	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535	Intron	39	478	1	0	7.66079e-34	0.002522	1.16109e-33	39	478				
POTED	317754	broad.mit.edu	37	21	15013702	15013702	+	Missense_Mutation	SNP	C	C	A	rs202016261		TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr21:15013702C>A	ENST00000299443.5	+	11	1622	c.1570C>A	c.(1570-1572)Cgt>Agt	p.R524S		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	524						plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						AGATCTCTTGCGTGAAAACAG	0.353																																							uc002yjb.1		NA																	0				ovary(3)|skin(3)	6						c.(1570-1572)CGT>AGT		pote protein							22.0	29.0	27.0					21																	15013702		849	3081	3930	SO:0001583	missense	317754					plasma membrane		g.chr21:15013702C>A	AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	23822	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 1"""	607549	"""ankyrin repeat domain 21"", ""ANKRD26-like family B, member 3"""	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.1570C>A	21.37:g.15013702C>A	ENSP00000299443:p.Arg524Ser						p.R524S	NM_174981	NP_778146	Q86YR6	POTED_HUMAN			11	1622	+			524			Potential.		C9JCF7	Missense_Mutation	SNP	ENST00000299443.5	37	c.1570C>A	CCDS13562.1	.	.	.	.	.	.	.	.	.	.	C	4.367	0.067716	0.08436	.	.	ENSG00000166351	ENST00000299443	T	0.25749	1.78	2.1	-1.65	0.08291	.	.	.	.	.	T	0.08223	0.0205	N	0.12182	0.205	0.09310	N	1	B	0.34200	0.441	B	0.21360	0.034	T	0.31138	-0.9954	9	0.09843	T	0.71	.	4.0072	0.09607	0.0:0.4986:0.2004:0.301	.	524	Q86YR6	POTED_HUMAN	S	524	ENSP00000299443:R524S	ENSP00000299443:R524S	R	+	1	0	POTED	13935573	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.045000	0.14013	-0.136000	0.11475	0.430000	0.28490	CGT		0.353	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157660.1	NM_174981		14	15	1	0	1.5739e-10	0.004007	1.93251e-10	14	15				
CLDN8	9073	broad.mit.edu	37	21	31587992	31587992	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr21:31587992C>A	ENST00000399899.1	-	1	399	c.252G>T	c.(250-252)atG>atT	p.M84I	CLDN8_ENST00000286809.1_Missense_Mutation_p.M84I	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	84					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						AAGCAGCACACATCAGTCCTC	0.527																																							uc002ynu.1		NA																	0					0						c.(250-252)ATG>ATT		claudin 8							109.0	89.0	96.0					21																	31587992		2203	4300	6503	SO:0001583	missense	9073				calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:31587992C>A	AJ250711	CCDS13587.1	21q22.1	2008-07-31			ENSG00000156284	ENSG00000156284		"""Claudins"""	2050	protein-coding gene	gene with protein product		611231				9892664	Standard	NM_199328		Approved		uc002ynu.2	P56748	OTTHUMG00000081872	ENST00000399899.1:c.252G>T	21.37:g.31587992C>A	ENSP00000382783:p.Met84Ile						p.M84I	NM_199328	NP_955360	P56748	CLD8_HUMAN			1	327	-			84			Helical; (Potential).		D3DSE3|Q53EX7	Missense_Mutation	SNP	ENST00000399899.1	37	c.252G>T	CCDS13587.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321731	0.60634	.	.	ENSG00000156284	ENST00000399899;ENST00000286809;ENST00000536721	D;D	0.91011	-2.77;-2.77	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.95519	0.8544	M	0.82630	2.6	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.94839	0.8003	10	0.45353	T	0.12	.	18.5801	0.91167	0.0:1.0:0.0:0.0	.	84	P56748	CLD8_HUMAN	I	84	ENSP00000382783:M84I;ENSP00000286809:M84I	ENSP00000286809:M84I	M	-	3	0	CLDN8	30509863	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	4.630000	0.61297	2.791000	0.96007	0.650000	0.86243	ATG		0.527	CLDN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182260.1	NM_199328		31	53	1	0	1.21669e-08	0.003271	1.44809e-08	31	53				
OR11H1	81061	broad.mit.edu	37	22	16449114	16449114	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr22:16449114C>A	ENST00000252835.4	-	1	691	c.691G>T	c.(691-693)Gga>Tga	p.G231*		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		GTATAGGATCCAATAATAAAG	0.428																																							uc011agd.1		NA																	0					0						c.(691-693)GGA>TGA		olfactory receptor, family 11, subfamily H,							98.0	97.0	98.0					22																	16449114		2201	4295	6496	SO:0001587	stop_gained	81061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr22:16449114C>A	AP000535, AF399611	CCDS74807.1	22q11.1	2012-08-09			ENSG00000130538	ENSG00000130538		"""GPCR / Class A : Olfactory receptors"""	15404	protein-coding gene	gene with protein product						12213199	Standard	NM_001005239		Approved	OR22-1	uc011agd.2	Q8NG94	OTTHUMG00000030069	ENST00000252835.4:c.691G>T	22.37:g.16449114C>A	ENSP00000252835:p.Gly231*						p.G231*	NM_001005239	NP_001005239	Q8NG94	O11H1_HUMAN		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)	1	691	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)	231			Helical; Name=5; (Potential).		Q6IEX0|Q96R32	Nonsense_Mutation	SNP	ENST00000252835.4	37	c.691G>T	CCDS33594.1	.	.	.	.	.	.	.	.	.	.	c	8.811	0.935251	0.18206	.	.	ENSG00000130538	ENST00000252835	.	.	.	1.88	1.88	0.25563	.	1.024520	0.07865	N	0.966947	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	9.9058	0.41375	0.0:1.0:0.0:0.0	.	.	.	.	X	231	.	ENSP00000252835:G231X	G	-	1	0	OR11H1	14829114	0.000000	0.05858	0.829000	0.32907	0.167000	0.22549	0.197000	0.17197	0.999000	0.39023	0.368000	0.22195	GGA		0.428	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074923.2	NM_001005239		54	142	1	0	2.2129e-31	0.00361	3.30233e-31	54	142				
SH3BP1	23616	broad.mit.edu	37	22	38046679	38046679	+	Silent	SNP	G	G	T	rs139958398	byFrequency	TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr22:38046679G>T	ENST00000357436.4	+	16	1858	c.1545G>T	c.(1543-1545)ccG>ccT	p.P515P	SH3BP1_ENST00000599616.1_Silent_p.P451P|Z83844.1_ENST00000456099.1_RNA	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	515					signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					ctccggctccggctccagctc	0.637																																							uc003ati.2		NA																	0				central_nervous_system(1)	1						c.(1543-1545)CCG>CCT		SH3-domain binding protein 1							27.0	30.0	29.0					22																	38046679		2203	4300	6503	SO:0001819	synonymous_variant	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38046679G>T		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"""Rho GTPase activating proteins"""	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.1545G>T	22.37:g.38046679G>T						SH3BP1_uc003atg.1_RNA|SH3BP1_uc011anl.1_3'UTR|SH3BP1_uc003ath.1_Silent_p.P515P|SH3BP1_uc003atj.1_Silent_p.P451P|SH3BP1_uc003atk.1_Silent_p.P429P|uc003atl.1_RNA	p.P515P	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN			16	1656	+	Melanoma(58;0.0574)		515					Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Silent	SNP	ENST00000357436.4	37	c.1545G>T	CCDS13952.2																																																																																				0.637	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		22	29	1	0	2.52088e-20	0.00278	3.49322e-20	22	29				
ATP2B2	491	broad.mit.edu	37	3	10443877	10443877	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr3:10443877G>A	ENST00000352432.4	-	3	622	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	ATP2B2_ENST00000383800.4_Missense_Mutation_p.R185C|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R185C|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R185C|ATP2B2_ENST00000397077.1_Missense_Mutation_p.R185C			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	185					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						TGCTCGATGCGGCTCTGCAGG	0.577																																					Ovarian(125;1619 1709 15675 19819 38835)	Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(553-555)CGC>TGC		plasma membrane calcium ATPase 2 isoform 1							137.0	147.0	144.0					3																	10443877		2203	4300	6503	SO:0001583	missense	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.chr3:10443877G>A	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.553C>T	3.37:g.10443877G>A	ENSP00000324172:p.Arg185Cys					ATP2B2_uc003bvv.2_Missense_Mutation_p.R185C|ATP2B2_uc003bvw.2_Missense_Mutation_p.R185C|ATP2B2_uc010hdp.2_Missense_Mutation_p.R185C|ATP2B2_uc010hdo.2_5'UTR	p.R185C	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			4	992	-			185			Cytoplasmic (Potential).		O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.553C>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	34	5.303842	0.95601	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	5.44	5.44	0.79542	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95586	0.8565	M	0.88512	2.96	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.969;0.976	D	0.96066	0.9042	10	0.87932	D	0	-24.2613	19.2768	0.94034	0.0:0.0:1.0:0.0	.	185;197;185	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	C	185;185;185;185;185;151;72;185	ENSP00000324172:R185C;ENSP00000373311:R185C;ENSP00000380267:R185C;ENSP00000353414:R185C;ENSP00000344677:R185C;ENSP00000414854:R72C	ENSP00000342954:R185C	R	-	1	0	ATP2B2	10418877	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.894000	0.87336	2.550000	0.86006	0.467000	0.42956	CGC		0.577	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		7	228	0	0	0	0.004482	0	7	228				
SLC6A1	6529	broad.mit.edu	37	3	11059634	11059634	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr3:11059634T>A	ENST00000287766.4	+	4	765	c.344T>A	c.(343-345)gTa>gAa	p.V115E	SLC6A1_ENST00000536032.1_Intron|SLC6A1-AS1_ENST00000414969.2_RNA	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	115					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	GGGCTAGGGGTATGGAAGCTG	0.597																																							uc010hdq.2		NA																	0				ovary(1)|skin(1)	2						c.(343-345)GTA>GAA		solute carrier family 6 (neurotransmitter	Cocaine(DB00907)|Tiagabine(DB00906)						118.0	129.0	126.0					3																	11059634		2203	4300	6503	SO:0001583	missense	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11059634T>A		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.344T>A	3.37:g.11059634T>A	ENSP00000287766:p.Val115Glu						p.V115E	NM_003042	NP_003033	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	4	755	+		Ovarian(110;0.0392)	115					Q8N4K8	Missense_Mutation	SNP	ENST00000287766.4	37	c.344T>A	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.621450	0.87460	.	.	ENSG00000157103	ENST00000287766	T	0.75589	-0.95	4.07	4.07	0.47477	.	0.000000	0.64402	D	0.000003	D	0.87334	0.6151	H	0.97103	3.94	0.80722	D	1	D	0.53745	0.962	P	0.53146	0.719	D	0.91427	0.5163	10	0.72032	D	0.01	.	13.5197	0.61561	0.0:0.0:0.0:1.0	.	115	P30531	SC6A1_HUMAN	E	115	ENSP00000287766:V115E	ENSP00000287766:V115E	V	+	2	0	SLC6A1	11034634	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	7.714000	0.84703	1.845000	0.53610	0.460000	0.39030	GTA		0.597	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		42	94	0	0	0	0.002852	0	42	94				
PDCD6IP	10015	broad.mit.edu	37	3	33870389	33870389	+	Silent	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr3:33870389C>T	ENST00000307296.3	+	7	1139	c.762C>T	c.(760-762)gcC>gcT	p.A254A	PDCD6IP_ENST00000457054.2_Silent_p.A259A			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	254	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TCATGCAGGCCAATGCTGAGT	0.438																																							uc003cfx.2		NA																	0				ovary(1)|skin(1)	2						c.(760-762)GCC>GCT		programmed cell death 6 interacting protein							122.0	116.0	118.0					3																	33870389		2203	4300	6503	SO:0001819	synonymous_variant	10015				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding	g.chr3:33870389C>T	BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.762C>T	3.37:g.33870389C>T						PDCD6IP_uc003cfy.2_Silent_p.A259A|PDCD6IP_uc011axw.1_Silent_p.A35A	p.A254A	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN			7	917	+			254			Interaction with EIAV p9.|Interaction with CHMP4A, CHMP4B and CHMP4C.|BRO1.		C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Silent	SNP	ENST00000307296.3	37	c.762C>T	CCDS2660.1																																																																																				0.438	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2			36	76	0	0	0	0.002836	0	36	76				
SCN5A	6331	broad.mit.edu	37	3	38616901	38616901	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr3:38616901G>T	ENST00000333535.4	-	20	3702	c.3553C>A	c.(3553-3555)Cag>Aag	p.Q1185K	SCN5A_ENST00000451551.2_Missense_Mutation_p.Q1131K|SCN5A_ENST00000449557.2_Missense_Mutation_p.Q1131K|SCN5A_ENST00000413689.1_Missense_Mutation_p.Q1185K|SCN5A_ENST00000423572.2_Missense_Mutation_p.Q1184K|SCN5A_ENST00000455624.2_Missense_Mutation_p.Q1184K|SCN5A_ENST00000425664.1_Missense_Mutation_p.Q1185K|SCN5A_ENST00000443581.1_Missense_Mutation_p.Q1184K|SCN5A_ENST00000450102.2_Missense_Mutation_p.Q1131K|SCN5A_ENST00000414099.2_Missense_Mutation_p.Q1185K			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1185					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CCTGGGGCCTGTGTGGTGTCC	0.592																																							uc003cio.2		NA																	0				ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9						c.(3553-3555)CAG>AAG		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						30.0	32.0	31.0					3																	38616901		2202	4300	6502	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38616901G>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3553C>A	3.37:g.38616901G>T	ENSP00000328968:p.Gln1185Lys					SCN5A_uc003cin.2_Missense_Mutation_p.Q1184K|SCN5A_uc003cil.3_Missense_Mutation_p.Q1185K|SCN5A_uc010hhi.2_Missense_Mutation_p.Q1185K|SCN5A_uc010hhk.2_Missense_Mutation_p.Q1184K|SCN5A_uc011ayr.1_Missense_Mutation_p.Q1131K|SCN5A_uc010hhj.1_Missense_Mutation_p.Q795K	p.Q1185K	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	20	3747	-	Medulloblastoma(35;0.163)		1185					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.3553C>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	6.124	0.391079	0.11581	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	4.31	4.31	0.51392	Sodium ion transport-associated (1);	0.789365	0.11805	N	0.527727	T	0.71358	0.3330	N	0.21240	0.645	0.09310	N	1	B;B;B;B;B;B;B	0.17465	0.0;0.002;0.007;0.009;0.022;0.0;0.001	B;B;B;B;B;B;B	0.21360	0.006;0.002;0.01;0.017;0.034;0.003;0.002	T	0.55055	-0.8200	10	0.18276	T	0.48	.	10.3748	0.44075	0.0:0.0:0.6709:0.3291	.	1131;1184;1185;1185;1185;1184;1185	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	K	1185;1184;1185;1131;1184;1185;1185;1184;1131;1131	ENSP00000398962:Q1185K;ENSP00000398266:Q1184K;ENSP00000410257:Q1185K;ENSP00000388797:Q1131K;ENSP00000397915:Q1184K;ENSP00000416634:Q1185K;ENSP00000328968:Q1185K;ENSP00000399524:Q1184K;ENSP00000403355:Q1131K;ENSP00000413996:Q1131K	ENSP00000328968:Q1185K	Q	-	1	0	SCN5A	38591905	0.000000	0.05858	0.873000	0.34254	0.789000	0.44602	0.054000	0.14205	2.413000	0.81919	0.655000	0.94253	CAG		0.592	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		9	9	1	0	7.48243e-07	0.006214	8.43948e-07	9	9				
KBTBD8	84541	broad.mit.edu	37	3	67058585	67058585	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr3:67058585G>T	ENST00000417314.2	+	4	1631	c.1582G>T	c.(1582-1584)Gta>Tta	p.V528L	KBTBD8_ENST00000460576.1_Missense_Mutation_p.V86L|KBTBD8_ENST00000295568.4_Missense_Mutation_p.V502L			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	528						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CCTTAAACTGGTACTTTTCCA	0.363																																							uc003dmy.2		NA																	0				ovary(2)|large_intestine(1)|breast(1)	4						c.(1582-1584)GTA>TTA		T-cell activation kelch repeat protein							121.0	116.0	118.0					3																	67058585		2203	4300	6503	SO:0001583	missense	84541							g.chr3:67058585G>T	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1582G>T	3.37:g.67058585G>T	ENSP00000401878:p.Val528Leu					KBTBD8_uc011bfv.1_Missense_Mutation_p.V86L	p.V528L	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	4	1635	+		Lung NSC(201;0.0765)	528			Kelch 4.		B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	c.1582G>T	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022016	0.35701	.	.	ENSG00000163376	ENST00000295568;ENST00000460576;ENST00000417314	T;T;T	0.69685	-0.42;-0.42;-0.42	5.57	5.57	0.84162	Kelch-type beta propeller (1);	0.110372	0.64402	D	0.000012	T	0.59905	0.2228	L	0.32530	0.975	0.44110	D	0.996881	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.001	T	0.53753	-0.8394	10	0.45353	T	0.12	.	19.552	0.95324	0.0:0.0:1.0:0.0	.	86;528	B4DTW6;Q8NFY9	.;KBTB8_HUMAN	L	502;86;528	ENSP00000295568:V502L;ENSP00000419738:V86L;ENSP00000401878:V528L	ENSP00000295568:V502L	V	+	1	0	KBTBD8	67141275	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.902000	0.63266	2.629000	0.89072	0.650000	0.86243	GTA		0.363	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		47	60	1	0	2.64894e-19	0.00361	3.64464e-19	47	60				
VGLL3	389136	broad.mit.edu	37	3	87017927	87017927	+	Silent	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr3:87017927A>T	ENST00000398399.2	-	3	1113	c.750T>A	c.(748-750)ccT>ccA	p.P250P	VGLL3_ENST00000383698.3_Silent_p.P250P	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGAGCCAGCAGGAGggtggt	0.587																																							uc003dqn.2		NA																	0					0						c.(748-750)CCT>CCA		colon carcinoma related protein							55.0	57.0	57.0					3																	87017927		2174	4273	6447	SO:0001819	synonymous_variant	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87017927A>T	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.750T>A	3.37:g.87017927A>T							p.P250P	NM_016206	NP_057290	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	3	1114	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	250						Silent	SNP	ENST00000398399.2	37	c.750T>A	CCDS43110.1	.	.	.	.	.	.	.	.	.	.	A	1.778	-0.482698	0.04383	.	.	ENSG00000206538	ENST00000494229	.	.	.	5.88	-3.89	0.04193	.	.	.	.	.	T	0.38852	0.1056	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40590	-0.9555	4	.	.	.	1.2859	2.3669	0.04321	0.3061:0.3737:0.0758:0.2444	.	.	.	.	S	184	.	.	C	-	1	0	VGLL3	87100617	0.983000	0.35010	0.958000	0.39756	0.156000	0.22039	-0.009000	0.12765	-0.129000	0.11620	-0.379000	0.06801	TGC		0.587	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		21	32	0	0	0	0.010504	0	21	32				
EVC	2121	broad.mit.edu	37	4	5800495	5800495	+	Silent	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr4:5800495G>T	ENST00000264956.6	+	15	2464	c.2280G>T	c.(2278-2280)cgG>cgT	p.R760R	EVC_ENST00000515113.1_3'UTR|EVC_ENST00000382674.2_Silent_p.R760R	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	760			R -> Q (in dbSNP:rs2279252). {ECO:0000269|PubMed:10700184}.		cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CCAAGAGCCGGGCCAAGGACA	0.632																																							uc003gil.1		NA																	0				ovary(1)|skin(1)	2	GRCh37	CI070543	EVC	I		c.(2278-2280)CGG>CGT		Ellis van Creveld syndrome protein							23.0	20.0	21.0					4																	5800495		2181	4269	6450	SO:0001819	synonymous_variant	2121				muscle organ development	integral to membrane		g.chr4:5800495G>T	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.2280G>T	4.37:g.5800495G>T						EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	p.R760R	NM_153717	NP_714928	P57679	EVC_HUMAN			15	2464	+		Myeloproliferative disorder(84;0.117)	760						Silent	SNP	ENST00000264956.6	37	c.2280G>T	CCDS3383.1																																																																																				0.632	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			5	15	1	0	0.00198382	0.001984	0.00209163	5	15				
NSUN7	79730	broad.mit.edu	37	4	40810420	40810420	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr4:40810420C>T	ENST00000381782.2	+	12	2116	c.1621C>T	c.(1621-1623)Cgg>Tgg	p.R541W	NSUN7_ENST00000316607.5_3'UTR	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	541							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.R541W(1)		NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						ATCATCAAAACGGGAGAAGAA	0.448																																							uc003gvj.3		NA																	1	Substitution - Missense(1)		endometrium(1)		0						c.(1621-1623)CGG>TGG		NOL1/NOP2/Sun domain family, member 7							89.0	74.0	78.0					4																	40810420		692	1591	2283	SO:0001583	missense	79730							g.chr4:40810420C>T	BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"""NOP2/Sun domain containing"""	25857	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family, member 7"""			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.1621C>T	4.37:g.40810420C>T	ENSP00000371201:p.Arg541Trp					NSUN7_uc003gvi.3_3'UTR	p.R541W	NM_024677	NP_078953					12	2116	+								C9JI19|Q8N9K8|Q9H815	Missense_Mutation	SNP	ENST00000381782.2	37	c.1621C>T	CCDS3461.2	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705929	0.68615	.	.	ENSG00000179299	ENST00000381782	T	0.05025	3.51	5.07	0.793	0.18632	.	0.356115	0.23766	N	0.044762	T	0.16214	0.0390	L	0.57536	1.79	0.58432	D	0.999999	D	0.89917	1.0	D	0.69654	0.965	T	0.00593	-1.1654	10	0.72032	D	0.01	-6.2504	9.0805	0.36550	0.5628:0.2348:0.2024:0.0	.	541	Q8NE18	NSUN7_HUMAN	W	541	ENSP00000371201:R541W	ENSP00000371201:R541W	R	+	1	2	NSUN7	40505177	0.962000	0.33011	0.854000	0.33618	0.977000	0.68977	0.040000	0.13905	0.250000	0.21479	0.591000	0.81541	CGG		0.448	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250454.2	NM_024677		3	43	0	0	0	0.009096	0	3	43				
GABRG1	2565	broad.mit.edu	37	4	46099217	46099217	+	Splice_Site	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr4:46099217C>T	ENST00000295452.4	-	2	421		c.e2+1			NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1						gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTCAAGCTTACCTCCTATATC	0.353																																							uc003gxb.2		NA																	0				ovary(2)	2						c.e2+1		gamma-aminobutyric acid A receptor, gamma 1							134.0	128.0	130.0					4																	46099217		2203	4299	6502	SO:0001630	splice_region_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46099217C>T	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.253+1G>A	4.37:g.46099217C>T							p.V85_splice	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	2	405	-								Q5H9T8	Splice_Site	SNP	ENST00000295452.4	37	c.253_splice	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678143	0.68042	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1072	0.86666	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GABRG1	45793974	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	7.319000	0.79040	2.511000	0.84671	0.655000	0.94253	.		0.353	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536	Intron	27	46	0	0	0	0.005443	0	27	46				
ASB5	140458	broad.mit.edu	37	4	177143562	177143562	+	Missense_Mutation	SNP	C	C	G	rs575382169		TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr4:177143562C>G	ENST00000296525.3	-	3	399	c.286G>C	c.(286-288)Gta>Cta	p.V96L	ASB5_ENST00000512254.1_Missense_Mutation_p.V43L|ASB5_ENST00000511879.1_5'UTR	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	96					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ACTGCATTTACATTATAACCC	0.398													C|||	1	0.000199681	0.0	0.0	5008	,	,		19270	0.0		0.001	False		,,,				2504	0.0						uc003iuq.1		NA																	0				skin(2)	2						c.(286-288)GTA>CTA		ankyrin repeat and SOCS box-containing protein							104.0	103.0	103.0					4																	177143562		2203	4300	6503	SO:0001583	missense	140458				intracellular signal transduction			g.chr4:177143562C>G	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.286G>C	4.37:g.177143562C>G	ENSP00000296525:p.Val96Leu					ASB5_uc003iup.1_Missense_Mutation_p.V43L	p.V96L	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	3	302	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	96			ANK 1.		Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	c.286G>C	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.209100	0.79240	.	.	ENSG00000164122	ENST00000296525;ENST00000512254	T;T	0.65916	-0.18;-0.18	5.44	5.44	0.79542	Ankyrin repeat-containing domain (4);	0.178794	0.48767	D	0.000172	T	0.53997	0.1831	N	0.22421	0.69	0.58432	D	0.999996	P;P	0.48294	0.744;0.908	B;B	0.42625	0.324;0.393	T	0.59418	-0.7458	10	0.54805	T	0.06	-23.4403	19.6316	0.95708	0.0:1.0:0.0:0.0	.	96;43	Q8WWX0;Q8N7B5	ASB5_HUMAN;.	L	96;43	ENSP00000296525:V96L;ENSP00000422877:V43L	ENSP00000296525:V96L	V	-	1	0	ASB5	177380556	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	7.163000	0.77524	2.708000	0.92522	0.585000	0.79938	GTA		0.398	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			23	32	0	0	0	0.00333	0	23	32				
SLC45A2	51151	broad.mit.edu	37	5	33984440	33984440	+	Silent	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:33984440C>A	ENST00000296589.4	-	1	395	c.249G>T	c.(247-249)ctG>ctT	p.L83L	SLC45A2_ENST00000342059.3_Silent_p.L83L|SLC45A2_ENST00000509381.1_Silent_p.L83L|SLC45A2_ENST00000345083.5_Silent_p.L83L|SLC45A2_ENST00000382102.3_Silent_p.L83L	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	83					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CGGGCTGCAGCAGGAATCCCA	0.652																																					Ovarian(31;380 859 8490 22203 49048)	Ovarian(31;380 859 8490 22203 49048)	uc003jid.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(247-249)CTG>CTT		membrane-associated transporter protein isoform							53.0	47.0	49.0					5																	33984440		2203	4300	6503	SO:0001819	synonymous_variant	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33984440C>A	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.249G>T	5.37:g.33984440C>A						SLC45A2_uc003jie.2_Silent_p.L83L|SLC45A2_uc003jif.3_Silent_p.L83L|SLC45A2_uc011coe.1_Silent_p.L83L	p.L83L	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN			1	341	-			83			Helical; Name=2; (Potential).		Q6P2P0|Q9BTM3	Silent	SNP	ENST00000296589.4	37	c.249G>T	CCDS3901.1																																																																																				0.652	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		11	26	1	0	5.16669e-11	0.000978	6.42524e-11	11	26				
PLK2	10769	broad.mit.edu	37	5	57751897	57751897	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:57751897A>T	ENST00000274289.3	-	10	1640	c.1340T>A	c.(1339-1341)aTg>aAg	p.M447K	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	447					G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		TCTGACTATCATCCGAATAGC	0.468																																							uc003jrn.2		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(1339-1341)ATG>AAG		polo-like kinase 2							109.0	104.0	105.0					5																	57751897		2203	4300	6503	SO:0001583	missense	10769				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr5:57751897A>T		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.1340T>A	5.37:g.57751897A>T	ENSP00000274289:p.Met447Lys						p.M447K	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	10	1467	-		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)	447					O60679|Q96CV7|Q9UE61	Missense_Mutation	SNP	ENST00000274289.3	37	c.1340T>A	CCDS3974.1	.	.	.	.	.	.	.	.	.	.	A	18.12	3.552024	0.65311	.	.	ENSG00000145632	ENST00000274289	T	0.64991	-0.13	5.88	5.88	0.94601	.	0.076965	0.85682	D	0.000000	T	0.53834	0.1821	L	0.51422	1.61	0.80722	D	1	B	0.25850	0.136	B	0.24006	0.05	T	0.52525	-0.8564	10	0.06099	T	0.92	-25.029	16.2997	0.82804	1.0:0.0:0.0:0.0	.	447	Q9NYY3	PLK2_HUMAN	K	447	ENSP00000274289:M447K	ENSP00000274289:M447K	M	-	2	0	PLK2	57787654	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.691000	0.91279	2.250000	0.74265	0.528000	0.53228	ATG		0.468	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		29	50	0	0	0	0.002096	0	29	50				
CMYA5	202333	broad.mit.edu	37	5	79026416	79026416	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:79026416G>T	ENST00000446378.2	+	2	1859	c.1828G>T	c.(1828-1830)Gag>Tag	p.E610*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	610	Glu-rich.				negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGAATTACAGGAGCAAGAAGG	0.418																																							uc003kgc.2		NA																	0				ovary(6)|pancreas(2)|lung(1)	9						c.(1828-1830)GAG>TAG		cardiomyopathy associated 5							150.0	146.0	147.0					5																	79026416		1935	4137	6072	SO:0001587	stop_gained	202333					perinuclear region of cytoplasm		g.chr5:79026416G>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.1828G>T	5.37:g.79026416G>T	ENSP00000394770:p.Glu610*						p.E610*	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	1900	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	610			Glu-rich.		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Nonsense_Mutation	SNP	ENST00000446378.2	37	c.1828G>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437181	0.62955	.	.	ENSG00000164309	ENST00000446378	.	.	.	5.8	0.325	0.15903	.	1.058350	0.07354	N	0.882898	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5434	0.33406	0.5468:0.0:0.4532:0.0	.	.	.	.	X	610	.	ENSP00000394770:E610X	E	+	1	0	CMYA5	79062172	0.002000	0.14202	0.035000	0.18076	0.005000	0.04900	0.364000	0.20325	0.144000	0.18951	-1.166000	0.01754	GAG		0.418	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		73	121	1	0	1.1794e-34	0.00361	1.80161e-34	73	121				
VCAN	1462	broad.mit.edu	37	5	82836167	82836167	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:82836167C>A	ENST00000265077.3	+	8	7910	c.7345C>A	c.(7345-7347)Cag>Aag	p.Q2449K	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.Q1462K|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2449	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|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)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TGCAACTACTCAGGCAACCAG	0.438																																							uc003kii.3		NA																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(7345-7347)CAG>AAG		versican isoform 1 precursor							115.0	111.0	112.0					5																	82836167		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82836167C>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.7345C>A	5.37:g.82836167C>A	ENSP00000265077:p.Gln2449Lys					VCAN_uc003kij.3_Missense_Mutation_p.Q1462K|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.Q1113K	p.Q2449K	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	7701	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2449			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.7345C>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	9.804	1.181447	0.21787	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.36878	1.23;1.23	6.07	1.93	0.25924	.	0.310962	0.28104	N	0.016589	T	0.30198	0.0757	L	0.41710	1.295	0.29159	N	0.877913	B;B	0.30686	0.29;0.191	B;B	0.30716	0.119;0.055	T	0.12426	-1.0548	10	0.23891	T	0.37	.	16.6931	0.85327	0.0:0.496:0.504:0.0	.	1462;2449	P13611-2;P13611	.;CSPG2_HUMAN	K	2449;1462	ENSP00000265077:Q2449K;ENSP00000340062:Q1462K	ENSP00000265077:Q2449K	Q	+	1	0	VCAN	82871923	1.000000	0.71417	0.981000	0.43875	0.575000	0.36095	1.648000	0.37271	0.384000	0.24942	0.655000	0.94253	CAG		0.438	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		54	107	1	0	2.5401e-28	0.00361	3.7051e-28	54	107				
HAPLN1	1404	broad.mit.edu	37	5	82948298	82948298	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:82948298G>A	ENST00000274341.4	-	3	1296	c.446C>T	c.(445-447)aCt>aTt	p.T149I	HAPLN1_ENST00000514416.1_Missense_Mutation_p.T149I	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	149	Ig-like V-type.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.T149I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	TACCACAACAGTATCATCTTC	0.378																																							uc003kim.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	large_intestine(3)|ovary(1)|skin(1)	5						c.(445-447)ACT>ATT		hyaluronan and proteoglycan link protein 1							167.0	168.0	168.0					5																	82948298		2203	4300	6503	SO:0001583	missense	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82948298G>A		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.446C>T	5.37:g.82948298G>A	ENSP00000274341:p.Thr149Ile					HAPLN1_uc003kin.2_Missense_Mutation_p.T149I	p.T149I	NM_001884	NP_001875	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	2	517	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	149			Ig-like V-type.		B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	c.446C>T	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050573	0.55218	.	.	ENSG00000145681	ENST00000274341;ENST00000510978;ENST00000508307;ENST00000503117;ENST00000504713;ENST00000514416;ENST00000515590	T;T;T;T;T;T;T	0.18810	4.17;4.17;4.17;4.17;4.17;4.17;2.19	6.16	6.16	0.99307	Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.42988	0.1227	M	0.70903	2.155	0.80722	D	1	P	0.47910	0.902	P	0.53035	0.716	T	0.08889	-1.0700	10	0.62326	D	0.03	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	149	P10915	HPLN1_HUMAN	I	149;149;149;148;149;149;149	ENSP00000274341:T149I;ENSP00000422592:T149I;ENSP00000421341:T149I;ENSP00000426610:T148I;ENSP00000422522:T149I;ENSP00000421726:T149I;ENSP00000423836:T149I	ENSP00000274341:T149I	T	-	2	0	HAPLN1	82984054	1.000000	0.71417	0.695000	0.30226	0.027000	0.11550	3.853000	0.55941	2.937000	0.99478	0.650000	0.86243	ACT		0.378	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		51	107	0	0	0	0.00361	0	51	107				
YTHDC2	64848	broad.mit.edu	37	5	112926863	112926863	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:112926863A>T	ENST00000161863.4	+	27	4164	c.3951A>T	c.(3949-3951)gaA>gaT	p.E1317D		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1317	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CTAGTAATGAACGGAAGCTAA	0.403																																							uc003kqn.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(3949-3951)GAA>GAT		YTH domain containing 2							154.0	155.0	155.0					5																	112926863		2202	4300	6502	SO:0001583	missense	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112926863A>T	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.3951A>T	5.37:g.112926863A>T	ENSP00000161863:p.Glu1317Asp						p.E1317D	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	27	4134	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	1317			YTH.		B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	c.3951A>T	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.001129	0.74818	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.35236	1.32	5.39	3.58	0.41010	YTH domain (2);	0.000000	0.85682	D	0.000000	T	0.49643	0.1569	L	0.49699	1.58	0.80722	D	1	D	0.53745	0.962	D	0.77004	0.989	T	0.42832	-0.9428	10	0.44086	T	0.13	.	9.3376	0.38060	0.2471:0.0:0.7529:0.0	.	1317	Q9H6S0	YTDC2_HUMAN	D	1317;1227	ENSP00000161863:E1317D	ENSP00000161863:E1317D	E	+	3	2	YTHDC2	112954762	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	2.806000	0.47947	1.242000	0.43836	-0.467000	0.05162	GAA		0.403	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		69	130	0	0	0	0.00361	0	69	130				
PCDHA10	56139	broad.mit.edu	37	5	140237734	140237734	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:140237734G>T	ENST00000307360.5	+	1	2101	c.2101G>T	c.(2101-2103)Gcc>Tcc	p.A701S	PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	701					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGATCATCGCCATCTGCGC	0.677																																							uc003lhx.2		NA																	0				ovary(2)|skin(2)|breast(1)	5						c.(2101-2103)GCC>TCC		protocadherin alpha 10 isoform 1 precursor							32.0	26.0	28.0					5																	140237734		1322	2291	3613	SO:0001583	missense	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140237734G>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.2101G>T	5.37:g.140237734G>T	ENSP00000304234:p.Ala701Ser					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Missense_Mutation_p.A701S	p.A701S	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2101	+			701			Helical; (Potential).		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.2101G>T	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823364	0.32237	.	.	ENSG00000250120	ENST00000307360	T	0.20069	2.1	3.66	3.66	0.41972	.	.	.	.	.	T	0.42720	0.1215	M	0.87381	2.88	0.28353	N	0.920795	P;P	0.52577	0.954;0.874	P;P	0.51833	0.681;0.462	T	0.44128	-0.9348	9	0.38643	T	0.18	.	15.9026	0.79392	0.0:0.0:1.0:0.0	.	701;701	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	S	701	ENSP00000304234:A701S	ENSP00000304234:A701S	A	+	1	0	PCDHA10	140217918	0.320000	0.24616	0.993000	0.49108	0.090000	0.18270	1.295000	0.33377	2.025000	0.59659	0.491000	0.48974	GCC		0.677	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		17	68	1	0	2.35188e-11	0.006122	2.94365e-11	17	68				
PCDHGA4	56111	broad.mit.edu	37	5	140736604	140736604	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:140736604G>T	ENST00000571252.1	+	1	1837	c.1837G>T	c.(1837-1839)Gag>Tag	p.E613*	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	613	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGTCCAGCGAGCCGGGACT	0.622																																							uc003ljq.1		NA																	0					0						c.(1837-1839)GAG>TAG		protocadherin gamma subfamily A, 4 isoform 1							41.0	50.0	47.0					5																	140736604		2192	4299	6491	SO:0001587	stop_gained	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140736604G>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1837G>T	5.37:g.140736604G>T	ENSP00000458570:p.Glu613*					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Nonsense_Mutation_p.E613*	p.E613*	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1837	+			613			Extracellular (Potential).|Cadherin 6.		Q9Y5D3	Nonsense_Mutation	SNP	ENST00000571252.1	37	c.1837G>T	CCDS58979.1																																																																																				0.622	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		35	66	1	0	2.20474e-14	0.003755	2.85146e-14	35	66				
ARAP3	64411	broad.mit.edu	37	5	141051832	141051832	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:141051832C>A	ENST00000239440.4	-	10	1487	c.1422G>T	c.(1420-1422)tgG>tgT	p.W474C	ARAP3_ENST00000513878.1_Missense_Mutation_p.W136C|ARAP3_ENST00000508305.1_Missense_Mutation_p.W396C	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	474	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GAGCGGCCGCCCAGCTCTGCC	0.632																																							uc003llm.2		NA																	0				breast(5)|ovary(1)|large_intestine(1)	7						c.(1420-1422)TGG>TGT		ArfGAP with RhoGAP domain, ankyrin repeat and PH							50.0	52.0	51.0					5																	141051832		2203	4299	6502	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141051832C>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.1422G>T	5.37:g.141051832C>A	ENSP00000239440:p.Trp474Cys					ARAP3_uc011dbe.1_Missense_Mutation_p.W136C|ARAP3_uc003lln.2_Missense_Mutation_p.W396C|ARAP3_uc003llo.1_Missense_Mutation_p.W474C	p.W474C	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN			10	1500	-			474			PH 2.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.1422G>T	CCDS4266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.90|19.90	3.913582|3.913582	0.72983|0.72983	.|.	.|.	ENSG00000120318|ENSG00000120318	ENST00000522690|ENST00000508305;ENST00000239440;ENST00000513878	.|T;T;T	.|0.28255	.|1.62;2.31;2.12	3.63|3.63	3.63|3.63	0.41609|0.41609	.|Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.|0.000000	.|0.64402	.|U	.|0.000001	T|T	0.55657|0.55657	0.1934|0.1934	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.991;0.987	T|T	0.63699|0.63699	-0.6578|-0.6578	6|10	0.59425|0.87932	D|D	0.04|0	.|.	14.2194|14.2194	0.65815|0.65815	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|136;396;474	.|B4DIT1;G5E9Y3;Q8WWN8	.|.;.;ARAP3_HUMAN	V|C	383|396;474;136	.|ENSP00000421826:W396C;ENSP00000239440:W474C;ENSP00000421468:W136C	ENSP00000428173:G383V|ENSP00000239440:W474C	G|W	-|-	2|3	0|0	ARAP3|ARAP3	141032016|141032016	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.585000|7.585000	0.82584|0.82584	1.845000|1.845000	0.53610|0.53610	0.467000|0.467000	0.42956|0.42956	GGG|TGG		0.632	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		37	77	1	0	2.04263e-09	0.004289	2.46131e-09	37	77				
HTR4	3360	broad.mit.edu	37	5	147830764	147830764	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:147830764A>T	ENST00000521530.1	-	6	1153	c.1148T>A	c.(1147-1149)cTg>cAg	p.L383Q	HTR4_ENST00000314512.6_3'UTR|HTR4_ENST00000521735.1_3'UTR|HTR4_ENST00000354217.2_Missense_Mutation_p.L383Q	NM_001040169.2	NP_001035259.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	0					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	GCATGATTCCAGGGATTCTGG	0.473																																					GBM(120;370 1604 14007 17804 41573)	GBM(120;370 1604 14007 17804 41573)	uc003lpj.1		NA																	0				ovary(1)	1						c.(1147-1149)CTG>CAG		serotonin 5-HT4 receptor isoform a	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)						417.0	353.0	374.0					5																	147830764		2203	4300	6503	SO:0001583	missense	3360				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	g.chr5:147830764A>T	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5299	protein-coding gene	gene with protein product		602164	"""5-hydroxytryptamine (serotonin) receptor 4"""			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000521530.1:c.1148T>A	5.37:g.147830764A>T	ENSP00000428320:p.Leu383Gln					HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_3'UTR	p.L383Q	NM_001040169	NP_001035259	Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1312	-			Error:Variant_position_missing_in_Q13639_after_alignment					C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Missense_Mutation	SNP	ENST00000521530.1	37	c.1148T>A	CCDS34270.1	.	.	.	.	.	.	.	.	.	.	A	13.61	2.289820	0.40494	.	.	ENSG00000164270	ENST00000521530;ENST00000354217	T;T	0.70986	-0.53;-0.53	5.13	3.9	0.45041	.	.	.	.	.	T	0.55768	0.1941	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.53507	-0.8429	8	0.35671	T	0.21	.	7.397	0.26942	0.7927:0.0:0.0:0.2073	.	383	Q13639-2	.	Q	383	ENSP00000428320:L383Q;ENSP00000346156:L383Q	ENSP00000346156:L383Q	L	-	2	0	HTR4	147810957	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	3.724000	0.54962	2.150000	0.67090	0.455000	0.32223	CTG		0.473	HTR4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374174.3	NM_000870		55	138	0	0	0	0.00361	0	55	138				
SFXN1	94081	broad.mit.edu	37	5	174938509	174938509	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:174938509G>T	ENST00000321442.5	+	5	744	c.490G>T	c.(490-492)Gga>Tga	p.G164*	SFXN1_ENST00000502393.1_Nonsense_Mutation_p.G164*	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	164					erythrocyte differentiation (GO:0030218)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AACAGCTCTAGGACTCAATGC	0.413																																							uc003mda.2		NA																	0				ovary(1)	1						c.(490-492)GGA>TGA		sideroflexin 1							208.0	195.0	199.0					5																	174938509		2203	4300	6503	SO:0001587	stop_gained	94081				iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding	g.chr5:174938509G>T	AF327346	CCDS4394.1	5q35.3	2008-02-05			ENSG00000164466	ENSG00000164466		"""Sideroflexins"""	16085	protein-coding gene	gene with protein product		615569					Standard	NM_022754		Approved	FLJ12876	uc003mda.2	Q9H9B4	OTTHUMG00000130555	ENST00000321442.5:c.490G>T	5.37:g.174938509G>T	ENSP00000316905:p.Gly164*					SFXN1_uc003mdb.1_Nonsense_Mutation_p.G103*	p.G164*	NM_022754	NP_073591	Q9H9B4	SFXN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		5	628	+	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	164			Helical; (Potential).		B3KPW3|D3DQN2|Q9HA53	Nonsense_Mutation	SNP	ENST00000321442.5	37	c.490G>T	CCDS4394.1	.	.	.	.	.	.	.	.	.	.	G	38	7.169892	0.98111	.	.	ENSG00000164466	ENST00000321442;ENST00000506963	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.925	18.1431	0.89647	0.0:0.0:1.0:0.0	.	.	.	.	X	164	.	ENSP00000316905:G164X	G	+	1	0	SFXN1	174871115	1.000000	0.71417	0.906000	0.35671	0.886000	0.51366	9.601000	0.98297	2.529000	0.85273	0.655000	0.94253	GGA		0.413	SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252980.2	NM_022754		69	146	1	0	3.82405e-32	0.00361	5.7509e-32	69	146				
VARS	7407	broad.mit.edu	37	6	31760560	31760560	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr6:31760560C>A	ENST00000375663.3	-	4	1075	c.635G>T	c.(634-636)gGa>gTa	p.G212V	VARS_ENST00000444930.2_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	212	GST C-terminal.				gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	AGGCCTGGCTCCTGAGTATAG	0.562																																							uc003nxe.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(634-636)GGA>GTA		valyl-tRNA synthetase	L-Valine(DB00161)						61.0	62.0	62.0					6																	31760560		2203	4300	6503	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31760560C>A	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.635G>T	6.37:g.31760560C>A	ENSP00000364815:p.Gly212Val					VARS_uc011doi.1_RNA	p.G212V	NM_006295	NP_006286	P26640	SYVC_HUMAN			4	1058	-			212			GST C-terminal.		B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.635G>T	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955273	0.53293	.	.	ENSG00000204394	ENST00000375663	T	0.04156	3.69	5.35	5.35	0.76521	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.238171	0.43260	D	0.000592	T	0.01835	0.0058	N	0.19112	0.55	0.80722	D	1	P	0.48764	0.915	B	0.37650	0.255	T	0.57602	-0.7783	10	0.62326	D	0.03	-23.9928	14.5741	0.68232	0.0:1.0:0.0:0.0	.	212	P26640	SYVC_HUMAN	V	212	ENSP00000364815:G212V	ENSP00000364815:G212V	G	-	2	0	VARS	31868539	0.932000	0.31603	0.997000	0.53966	0.762000	0.43233	2.653000	0.46691	2.498000	0.84270	0.467000	0.42956	GGA		0.562	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		27	50	1	0	9.04412e-07	0.004656	1.0142e-06	27	50				
ATF6B	1388	broad.mit.edu	37	6	32089112	32089112	+	Silent	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr6:32089112C>T	ENST00000375203.3	-	6	524	c.492G>A	c.(490-492)aaG>aaA	p.K164K	ATF6B_ENST00000375201.4_Silent_p.K161K	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	164					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						CAGGTTCTATCTTGGTCTGGA	0.542																																							uc003nzn.2		NA																	0					0						c.(490-492)AAG>AAA		activating transcription factor 6 beta isoform							116.0	86.0	96.0					6																	32089112		2203	4300	6503	SO:0001819	synonymous_variant	1388				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32089112C>T		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.492G>A	6.37:g.32089112C>T						ATF6B_uc003nzo.2_Silent_p.K161K|ATF6B_uc003nzp.1_5'Flank|ATF6B_uc011dpg.1_Silent_p.K98K|ATF6B_uc011dph.1_Silent_p.K164K	p.K164K	NM_004381	NP_004372	Q99941	ATF6B_HUMAN			6	525	-			164			Cytoplasmic (Potential).		B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Silent	SNP	ENST00000375203.3	37	c.492G>A	CCDS4737.1																																																																																				0.542	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2			10	22	0	0	0	0.008291	0	10	22				
ITPR3	3710	broad.mit.edu	37	6	33608316	33608316	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr6:33608316C>T	ENST00000374316.5	+	3	1205	c.145C>T	c.(145-147)Cct>Tct	p.P49S	ITPR3_ENST00000605930.1_Missense_Mutation_p.P49S			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	49					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GGACAACCCCCCTAAGAAGTT	0.612																																							uc011drk.1		NA																	0				ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						c.(145-147)CCT>TCT		inositol 1,4,5-triphosphate receptor, type 3							133.0	146.0	142.0					6																	33608316		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33608316C>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.145C>T	6.37:g.33608316C>T	ENSP00000363435:p.Pro49Ser						p.P49S	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			2	364	+			49			Cytoplasmic (Potential).		Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.145C>T	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570898	0.86542	.	.	ENSG00000096433	ENST00000374316	D	0.99872	-7.36	5.15	5.15	0.70609	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.060543	0.64402	D	0.000002	D	0.99849	0.9930	M	0.83118	2.625	0.49582	D	0.999802	D	0.89917	1.0	D	0.91635	0.999	D	0.96343	0.9252	10	0.87932	D	0	-7.1016	14.1189	0.65175	0.0:1.0:0.0:0.0	.	49	Q14573	ITPR3_HUMAN	S	49	ENSP00000363435:P49S	ENSP00000363435:P49S	P	+	1	0	ITPR3	33716294	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	5.846000	0.69444	2.392000	0.81423	0.491000	0.48974	CCT		0.612	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		59	136	0	0	0	0.00361	0	59	136				
PNPLA1	285848	broad.mit.edu	37	6	36269663	36269663	+	Silent	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr6:36269663C>T	ENST00000394571.2	+	6	801	c.801C>T	c.(799-801)tcC>tcT	p.S267S	PNPLA1_ENST00000388715.3_Silent_p.S172S|PNPLA1_ENST00000312917.5_Silent_p.S181S	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	267					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						ATTCTTCCTCCAAGAGAGTGA	0.498											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc010jwf.2		NA																	0				large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4						c.(799-801)TCC>TCT		patatin-like phospholipase domain containing 1							83.0	86.0	85.0					6																	36269663		2203	4300	6503	SO:0001819	synonymous_variant	285848				lipid catabolic process		hydrolase activity	g.chr6:36269663C>T		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"""Patatin-like phospholipase domain containing"""	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.801C>T	6.37:g.36269663C>T			OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	861	PNPLA1_uc003olw.1_Silent_p.S172S|PNPLA1_uc010jwe.1_Silent_p.S181S	p.S267S	NM_001145717	NP_001139189	Q8N8W4	PLPL1_HUMAN			6	801	+			267					A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Silent	SNP	ENST00000394571.2	37	c.801C>T	CCDS54997.1																																																																																				0.498	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		24	58	0	0	0	0.002299	0	24	58				
PHF3	23469	broad.mit.edu	37	6	64422791	64422791	+	Silent	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr6:64422791C>T	ENST00000262043.3	+	16	5647	c.5307C>T	c.(5305-5307)aaC>aaT	p.N1769N	PHF3_ENST00000393387.1_Silent_p.N1769N			Q92576	PHF3_HUMAN	PHD finger protein 3	1769					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAGTTGGAAACACATGTCCAT	0.423																																					GBM(135;136 1820 29512 34071 46235)	GBM(135;136 1820 29512 34071 46235)	uc003pep.1		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(5305-5307)AAC>AAT		PHD finger protein 3							106.0	104.0	105.0					6																	64422791		2203	4300	6503	SO:0001819	synonymous_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64422791C>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.5307C>T	6.37:g.64422791C>T						PHF3_uc003pen.2_Silent_p.N1681N|PHF3_uc011dxs.1_Silent_p.N1038N	p.N1769N	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		15	5333	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1769					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	ENST00000262043.3	37	c.5307C>T	CCDS4966.1																																																																																				0.423	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			33	68	0	0	0	0.002836	0	33	68				
HTR1E	3354	broad.mit.edu	37	6	87725613	87725613	+	Silent	SNP	G	G	A	rs146708836		TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr6:87725613G>A	ENST00000305344.5	+	2	1264	c.561G>A	c.(559-561)acG>acA	p.T187T		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	187					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TTTACTCCACGCTGGGTGCGT	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16617	0.0		0.0	False		,,,				2504	0.0						uc003pli.2		NA																	0				ovary(2)|skin(1)	3						c.(559-561)ACG>ACA		5-hydroxytryptamine (serotonin) receptor 1E	Eletriptan(DB00216)	G		0,4406		0,0,2203	107.0	102.0	104.0		561	-8.4	0.1	6	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HTR1E	NM_000865.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		187/366	87725613	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725613G>A		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.561G>A	6.37:g.87725613G>A							p.T187T	NM_000865	NP_000856	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1264	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	187			Helical; Name=5; (By similarity).		E1P503|Q9P1Y1	Silent	SNP	ENST00000305344.5	37	c.561G>A	CCDS5006.1																																																																																				0.532	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		16	46	0	0	0	0.003163	0	16	46				
SERINC1	57515	broad.mit.edu	37	6	122792857	122792857	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr6:122792857G>A	ENST00000339697.4	-	1	110	c.26C>T	c.(25-27)tCc>tTc	p.S9F	PKIB_ENST00000392491.2_5'Flank	NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	9					L-serine transport (GO:0015825)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		GCTCGCCATGGAGCACAGCCC	0.587																																							uc003pyy.1		NA																	0				ovary(1)	1						c.(25-27)TCC>TTC		serine incorporator 1							127.0	123.0	124.0					6																	122792857		2203	4300	6503	SO:0001583	missense	57515				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding	g.chr6:122792857G>A	AF087902	CCDS5125.1	6q22.32	2006-02-09	2005-10-14	2005-10-14	ENSG00000111897	ENSG00000111897			13464	protein-coding gene	gene with protein product		614548	"""tumor differentially expressed 2"""	TDE2		10637174	Standard	NM_020755		Approved	TMS-2, TDE1L, KIAA1253	uc003pyy.1	Q9NRX5	OTTHUMG00000015487	ENST00000339697.4:c.26C>T	6.37:g.122792857G>A	ENSP00000342962:p.Ser9Phe					PKIB_uc003pyz.2_5'Flank	p.S9F	NM_020755	NP_065806	Q9NRX5	SERC1_HUMAN		GBM - Glioblastoma multiforme(226;0.126)	1	96	-			9			Cytoplasmic (Potential).		B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Missense_Mutation	SNP	ENST00000339697.4	37	c.26C>T	CCDS5125.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924409	0.73213	.	.	ENSG00000111897	ENST00000339697;ENST00000368454	T;T	0.15487	2.42;2.42	5.37	5.37	0.77165	.	0.347798	0.34268	N	0.004104	T	0.15869	0.0382	M	0.82323	2.585	0.58432	D	0.999992	B	0.29571	0.249	B	0.26202	0.067	T	0.01869	-1.1257	10	0.87932	D	0	-1.1859	14.48	0.67576	0.0:0.0:1.0:0.0	.	9	Q9NRX5	SERC1_HUMAN	F	9	ENSP00000342962:S9F;ENSP00000357439:S9F	ENSP00000342962:S9F	S	-	2	0	SERINC1	122834556	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.657000	0.61490	2.786000	0.95864	0.561000	0.74099	TCC		0.587	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042031.2	NM_020755		36	63	0	0	0	0.003755	0	36	63				
HEATR2	54919	broad.mit.edu	37	7	803547	803547	+	Silent	SNP	G	G	T	rs374651851	byFrequency	TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr7:803547G>T	ENST00000297440.6	+	8	1739	c.1719G>T	c.(1717-1719)tcG>tcT	p.S573S	HEATR2_ENST00000313147.5_Silent_p.S573S	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	573						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TGACCGCGTCGCACCTTGACT	0.652																																							uc010krz.1		NA																	0				skin(1)	1						c.(1717-1719)TCG>TCT		HEAT repeat containing 2							129.0	112.0	118.0					7																	803547		2203	4300	6503	SO:0001819	synonymous_variant	54919						protein binding	g.chr7:803547G>T	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.1719G>T	7.37:g.803547G>T						HEATR2_uc003siz.2_Silent_p.S441S|HEATR2_uc003sja.2_Silent_p.S31S	p.S573S	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	8	1739	+		Ovarian(82;0.0112)	573					Q69YL1|Q96FI9|Q9NX75	Silent	SNP	ENST00000297440.6	37	c.1719G>T	CCDS34580.1	.	.	.	.	.	.	.	.	.	.	G	4.254	0.046226	0.08243	.	.	ENSG00000164818	ENST00000440747	.	.	.	5.03	-10.1	0.00402	.	.	.	.	.	T	0.16128	0.0388	.	.	.	0.25996	N	0.982182	.	.	.	.	.	.	T	0.06232	-1.0838	4	.	.	.	-21.9325	3.6564	0.08222	0.5056:0.1817:0.1328:0.1799	.	.	.	.	S	375	.	.	A	+	1	0	HEATR2	770073	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.408000	0.00067	-3.987000	0.00084	-2.086000	0.00376	GCA		0.652	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		32	101	1	0	2.23313e-29	0.002445	3.30707e-29	32	101				
TTYH3	80727	broad.mit.edu	37	7	2686562	2686562	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr7:2686562T>A	ENST00000258796.7	+	2	404	c.199T>A	c.(199-201)Tgg>Agg	p.W67R	TTYH3_ENST00000403167.1_5'Flank|TTYH3_ENST00000407643.1_Missense_Mutation_p.W67R	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	67					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CTACTCCTTCTGGCTGTGCTG	0.697																																							uc003smp.2		NA																	0					0						c.(199-201)TGG>AGG		tweety 3							26.0	25.0	26.0					7																	2686562		2197	4297	6494	SO:0001583	missense	80727					chloride channel complex|plasma membrane	chloride channel activity	g.chr7:2686562T>A		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"""tweety homolog 3 (Drosophila)"""				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.199T>A	7.37:g.2686562T>A	ENSP00000258796:p.Trp67Arg					TTYH3_uc010ksn.2_5'Flank|TTYH3_uc003smq.2_5'Flank	p.W67R	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)	2	386	+		Ovarian(82;0.0112)	67			Cytoplasmic (Potential).		A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Missense_Mutation	SNP	ENST00000258796.7	37	c.199T>A	CCDS34588.1	.	.	.	.	.	.	.	.	.	.	T	13.70	2.315692	0.40996	.	.	ENSG00000136295	ENST00000258796;ENST00000407643;ENST00000400376	T;T;T	0.10960	2.82;2.82;2.82	4.96	3.8	0.43715	.	0.115591	0.64402	D	0.000006	T	0.18045	0.0433	L	0.34521	1.04	0.80722	D	1	D	0.67145	0.996	D	0.65573	0.936	T	0.02691	-1.1123	10	0.20519	T	0.43	.	11.9782	0.53105	0.0:0.0:0.1454:0.8545	.	67	Q9C0H2	TTYH3_HUMAN	R	67;67;74	ENSP00000258796:W67R;ENSP00000385316:W67R;ENSP00000383227:W74R	ENSP00000258796:W67R	W	+	1	0	TTYH3	2653088	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.825000	0.62708	0.739000	0.32628	-0.365000	0.07479	TGG		0.697	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523		6	18	0	0	0	0.001168	0	6	18				
GLI3	2737	broad.mit.edu	37	7	42005278	42005278	+	Silent	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr7:42005278C>A	ENST00000395925.3	-	15	3477	c.3393G>T	c.(3391-3393)gcG>gcT	p.A1131A	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1131					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCAGCCCGGGCGCGTCAAAGT	0.637									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																														uc011kbh.1		NA																	0				lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(3391-3393)GCG>GCT		GLI-Kruppel family member GLI3							57.0	65.0	62.0					7																	42005278		2203	4300	6503	SO:0001819	synonymous_variant	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005278C>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3393G>T	7.37:g.42005278C>A						GLI3_uc011kbg.1_Silent_p.A1072A	p.A1131A	NM_000168	NP_000159	P10071	GLI3_HUMAN			15	3484	-			1131					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.3393G>T	CCDS5465.1																																																																																				0.637	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		54	112	1	0	1.27862e-28	0.00361	1.87918e-28	54	112				
STYXL1	51657	broad.mit.edu	37	7	75659763	75659763	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr7:75659763C>T	ENST00000248600.1	-	2	421	c.79G>A	c.(79-81)Gac>Aac	p.D27N	STYXL1_ENST00000360591.3_Missense_Mutation_p.D27N|STYXL1_ENST00000460184.2_5'UTR|STYXL1_ENST00000340062.5_Missense_Mutation_p.D27N|STYXL1_ENST00000431581.1_Missense_Mutation_p.D27N|STYXL1_ENST00000359697.3_Missense_Mutation_p.D27N|STYXL1_ENST00000451157.1_Missense_Mutation_p.D27N	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	27	Rhodanese.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						TAGTTGGGGTCTGTTAATCTG	0.398																																							uc003uej.3		NA																	0					0						c.(79-81)GAC>AAC		map kinase phosphatase-like protein MK-STYX							130.0	113.0	119.0					7																	75659763		2203	4300	6503	SO:0001583	missense	51657				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity	g.chr7:75659763C>T	AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	18165	protein-coding gene	gene with protein product			"""dual specificity phosphatase 24 (putative)"""	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.79G>A	7.37:g.75659763C>T	ENSP00000248600:p.Asp27Asn					STYXL1_uc011kgf.1_5'Flank|STYXL1_uc011kgg.1_5'Flank|STYXL1_uc003ueh.2_5'Flank|STYXL1_uc003uek.3_Missense_Mutation_p.D27N|STYXL1_uc003uel.2_Missense_Mutation_p.D27N|STYXL1_uc003uem.2_Missense_Mutation_p.D27N|STYXL1_uc010ldg.1_RNA|STYXL1_uc010ldh.1_Missense_Mutation_p.D27N|STYXL1_uc003uen.1_Missense_Mutation_p.D27N	p.D27N	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN			2	252	-			27			Rhodanese.		Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Missense_Mutation	SNP	ENST00000248600.1	37	c.79G>A	CCDS5580.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728552	0.89390	.	.	ENSG00000127952	ENST00000248600;ENST00000359697;ENST00000340062;ENST00000404050;ENST00000360591;ENST00000431581;ENST00000451157	T;T;T;T;T;T	0.41400	1.6;1.6;1.6;1.0;1.6;1.6	5.52	5.52	0.82312	Rhodanese-like (3);	0.110266	0.64402	D	0.000011	T	0.41743	0.1172	L	0.29908	0.895	0.27283	N	0.958052	P;B;B;P	0.50369	0.934;0.332;0.007;0.848	P;B;B;P	0.48270	0.572;0.102;0.022;0.568	T	0.35822	-0.9773	10	0.51188	T	0.08	-19.0303	16.9153	0.86149	0.0:1.0:0.0:0.0	.	27;27;27;27	C9J4H0;Q9Y6J8-2;Q9Y6J8-4;Q9Y6J8	.;.;.;STYL1_HUMAN	N	27	ENSP00000248600:D27N;ENSP00000352726:D27N;ENSP00000343383:D27N;ENSP00000353798:D27N;ENSP00000392221:D27N;ENSP00000411812:D27N	ENSP00000248600:D27N	D	-	1	0	STYXL1	75497699	0.998000	0.40836	0.998000	0.56505	0.931000	0.56810	4.979000	0.63806	2.595000	0.87683	0.650000	0.86243	GAC		0.398	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344825.1	NM_016086		14	47	0	0	0	0.004007	0	14	47				
CACNA2D1	781	broad.mit.edu	37	7	81612643	81612643	+	Intron	SNP	C	C	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr7:81612643C>G	ENST00000356253.5	-	24	2186				CACNA2D1_ENST00000356860.3_Missense_Mutation_p.K627N			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1						calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TCATTTTGCCCTTTTTTGCTG	0.338																																							uc003uhr.1		NA																	0				ovary(5)|pancreas(1)	6						c.(1879-1881)AAG>AAC		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						100.0	95.0	97.0					7																	81612643		2203	4300	6503	SO:0001627	intron_variant	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81612643C>G	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1931-700G>C	7.37:g.81612643C>G							p.K627N	NM_000722	NP_000713	P54289	CA2D1_HUMAN			23	2137	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.1881G>C		.	.	.	.	.	.	.	.	.	.	C	8.282	0.815719	0.16607	.	.	ENSG00000153956	ENST00000356860	T	0.80304	-1.36	6.02	5.14	0.70334	.	.	.	.	.	T	0.60064	0.2240	N	0.03608	-0.345	0.80722	D	1	P	0.41848	0.763	B	0.36608	0.229	T	0.64262	-0.6449	9	0.26408	T	0.33	14.5744	15.5841	0.76468	0.0:0.9335:0.0:0.0665	.	627	P54289-2	.	N	627	ENSP00000349320:K627N	ENSP00000349320:K627N	K	-	3	2	CACNA2D1	81450579	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.502000	0.35704	2.850000	0.98022	0.650000	0.86243	AAG		0.338	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				6	19	0	0	0	0.001168	0	6	19				
ABCB1	5243	broad.mit.edu	37	7	87214992	87214992	+	Missense_Mutation	SNP	C	C	A	rs199551851		TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr7:87214992C>A	ENST00000265724.3	-	5	539	c.122G>T	c.(121-123)cGc>cTc	p.R41L	ABCB1_ENST00000543898.1_Missense_Mutation_p.R41L	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	41					drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.R41H(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	ATTTGAATAGCGAAACTAAAA	0.378																																							uc003uiz.1		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(121-123)CGC>CTC		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						51.0	54.0	53.0					7																	87214992		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87214992C>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.122G>T	7.37:g.87214992C>A	ENSP00000265724:p.Arg41Leu					ABCB1_uc011khc.1_Missense_Mutation_p.R41L	p.R41L	NM_000927	NP_000918	P08183	MDR1_HUMAN			5	540	-	Esophageal squamous(14;0.00164)		41			Cytoplasmic (Potential).		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.122G>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621328	0.66787	.	.	ENSG00000085563	ENST00000265724;ENST00000543898;ENST00000416177	D;D;T	0.84589	-1.87;-1.87;0.49	5.72	5.72	0.89469	ABC transporter, transmembrane domain, type 1 (1);	0.102456	0.64402	D	0.000002	D	0.84759	0.5543	N	0.08118	0	0.39823	D	0.972866	P;D	0.89917	0.902;1.0	P;D	0.85130	0.686;0.997	D	0.88373	0.2996	10	0.87932	D	0	-11.0394	15.3886	0.74723	0.0:1.0:0.0:0.0	.	41;41	B5AK60;P08183	.;MDR1_HUMAN	L	41	ENSP00000265724:R41L;ENSP00000444095:R41L;ENSP00000399419:R41L	ENSP00000265724:R41L	R	-	2	0	ABCB1	87052928	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	3.949000	0.56668	2.700000	0.92200	0.563000	0.77884	CGC		0.378	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		15	40	1	0	6.31663e-08	0.003163	7.25104e-08	15	40				
PEX1	5189	broad.mit.edu	37	7	92147523	92147523	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr7:92147523C>A	ENST00000248633.4	-	4	499	c.404G>T	c.(403-405)cGa>cTa	p.R135L	PEX1_ENST00000541751.1_5'Flank|PEX1_ENST00000428214.1_Missense_Mutation_p.R135L|PEX1_ENST00000438045.1_Intron	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	135					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)	p.R135L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AAAAACTATTCGAATTTGATC	0.348																																							uc003uly.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(403-405)CGA>CTA		peroxin1							101.0	100.0	100.0					7																	92147523		2203	4300	6503	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92147523C>A	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.404G>T	7.37:g.92147523C>A	ENSP00000248633:p.Arg135Leu					PEX1_uc011khr.1_5'UTR|PEX1_uc010ley.2_Missense_Mutation_p.R135L|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_5'Flank	p.R135L	NM_000466	NP_000457	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		4	500	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	135					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.404G>T	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012936	0.93346	.	.	ENSG00000127980	ENST00000248633;ENST00000428214;ENST00000545192	D;D	0.96587	-4.01;-4.06	5.93	5.93	0.95920	Peroxisome biogenesis factor 1, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98454	0.9485	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98863	1.0763	10	0.87932	D	0	-13.3009	20.3397	0.98756	0.0:1.0:0.0:0.0	.	135	O43933	PEX1_HUMAN	L	135	ENSP00000248633:R135L;ENSP00000394413:R135L	ENSP00000248633:R135L	R	-	2	0	PEX1	91985459	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.859000	0.75467	2.803000	0.96430	0.585000	0.79938	CGA		0.348	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		28	47	1	0	1.22384e-17	0.002836	1.672e-17	28	47				
EPO	2056	broad.mit.edu	37	7	100320640	100320640	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr7:100320640C>T	ENST00000252723.2	+	5	647	c.466C>T	c.(466-468)Cca>Tca	p.P156S		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	156					aging (GO:0007568)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular hyperosmotic response (GO:0071474)|cellular response to hypoxia (GO:0071456)|embryo implantation (GO:0007566)|erythrocyte maturation (GO:0043249)|hemoglobin biosynthetic process (GO:0042541)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cation channel activity (GO:2001258)|negative regulation of erythrocyte apoptotic process (GO:1902251)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to axon injury (GO:0048678)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to hyperoxia (GO:0055093)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to salt stress (GO:0009651)|response to testosterone (GO:0033574)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein kinase activator activity (GO:0030295)			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTCAGCTGCTCCACTCCGAAC	0.557																																							uc003uwi.2		NA																	0				central_nervous_system(2)	2						c.(466-468)CCA>TCA		erythropoietin precursor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						131.0	132.0	132.0					7																	100320640		2203	4300	6503	SO:0001583	missense	2056				blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity	g.chr7:100320640C>T	X02157	CCDS5705.1	7q21	2014-01-30			ENSG00000130427	ENSG00000130427		"""Endogenous ligands"""	3415	protein-coding gene	gene with protein product		133170				9799793, 3838366	Standard	NM_000799		Approved	EP	uc003uwi.3	P01588	OTTHUMG00000152121	ENST00000252723.2:c.466C>T	7.37:g.100320640C>T	ENSP00000252723:p.Pro156Ser					EPO_uc011kkc.1_Missense_Mutation_p.P155S	p.P156S	NM_000799	NP_000790	P01588	EPO_HUMAN			5	647	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		156					Q2M2L6|Q549U2|Q9UDZ0|Q9UEZ5|Q9UHA0	Missense_Mutation	SNP	ENST00000252723.2	37	c.466C>T	CCDS5705.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344552	0.41498	.	.	ENSG00000130427	ENST00000252723	T	0.40476	1.03	5.37	4.49	0.54785	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.417197	0.24691	N	0.036388	T	0.53997	0.1831	M	0.77820	2.39	0.33464	D	0.585362	D;D	0.53885	0.963;0.963	P;P	0.53062	0.717;0.717	T	0.67887	-0.5554	10	0.40728	T	0.16	-37.2298	10.2281	0.43238	0.0:0.9079:0.0:0.0921	.	155;156	B7ZKK5;P01588	.;EPO_HUMAN	S	156	ENSP00000252723:P156S	ENSP00000252723:P156S	P	+	1	0	EPO	100158576	0.945000	0.32115	0.969000	0.41365	0.069000	0.16628	2.082000	0.41605	1.402000	0.46780	0.549000	0.68633	CCA		0.557	EPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325323.1	NM_000799		70	134	0	0	0	0.00361	0	70	134				
C7orf60	154743	broad.mit.edu	37	7	112579784	112579784	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr7:112579784G>C	ENST00000297145.4	-	1	187	c.22C>G	c.(22-24)Cga>Gga	p.R8G	C7orf60_ENST00000485446.1_5'Flank	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	8							rRNA (adenine) methyltransferase activity (GO:0016433)			breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						GCAGTATTTCGGCCGCCGGCC	0.721																																							uc003vgo.1		NA																	0				ovary(2)|skin(1)	3						c.(22-24)CGA>GGA		hypothetical protein LOC154743							11.0	13.0	13.0					7																	112579784		1811	4039	5850	SO:0001583	missense	154743							g.chr7:112579784G>C		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31818"""						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.22C>G	7.37:g.112579784G>C	ENSP00000297145:p.Arg8Gly					C7orf60_uc011kms.1_Missense_Mutation_p.R8G	p.R8G	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN			1	149	-			8					Q8N3D0|Q96MV7	Missense_Mutation	SNP	ENST00000297145.4	37	c.22C>G	CCDS43634.1	.	.	.	.	.	.	.	.	.	.	G	8.491	0.862104	0.17178	.	.	ENSG00000164603	ENST00000297145	.	.	.	4.93	3.97	0.46021	.	0.485871	0.18028	U	0.154008	T	0.26340	0.0643	N	0.22421	0.69	0.09310	N	1	B	0.11235	0.004	B	0.14578	0.011	T	0.04885	-1.0920	9	0.34782	T	0.22	-4.2193	7.4068	0.26995	0.1192:0.0:0.8808:0.0	.	8	Q1RMZ1	CG060_HUMAN	G	8	.	ENSP00000297145:R8G	R	-	1	2	C7orf60	112367020	0.404000	0.25328	0.062000	0.19696	0.047000	0.14425	0.780000	0.26760	2.577000	0.86979	0.456000	0.33151	CGA		0.721	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		18	22	0	0	0	0.00499	0	18	22				
BRAF	673	broad.mit.edu	37	7	140481411	140481411	+	Missense_Mutation	SNP	C	C	A	rs121913351		TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr7:140481411C>A	ENST00000288602.6	-	11	1457	c.1397G>T	c.(1396-1398)gGa>gTa	p.G466V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	466	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> A (in melanoma). {ECO:0000269|PubMed:12068308}.|G -> E (in melanoma). {ECO:0000269|PubMed:12068308}.|G -> V (in LNCR). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12460919}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G466V(15)|p.G466E(5)|p.G466A(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCCAAATGATCCAGATCCAAT	0.378	G466V(CAL12T_LUNG)|G466V(NCIH1666_LUNG)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	Colon(40;35 892 2973 5743 27438)	uc003vwc.3	G466V(NCIH1666_LUNG)|G466V(CAL12T_LUNG)	61		Dom	yes		7	7q34	673	Mis|T|O	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	21	Substitution - Missense(21)	p.G466V(12)|p.G466E(5)|p.G466A(3)|p.G466R(2)	lung(10)|skin(7)|ovary(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290						c.(1396-1398)GGA>GTA		B-Raf	Sorafenib(DB00398)						173.0	148.0	156.0					7																	140481411		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous_syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140481411C>A	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1397G>T	7.37:g.140481411C>A	ENSP00000288602:p.Gly466Val						p.G466V	NM_004333	NP_004324	P15056	BRAF_HUMAN			11	1458	-	Melanoma(164;0.00956)		466		G -> V (in LNCR).|G -> A (in melanoma).|G -> E (in melanoma).	ATP (By similarity).|Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1397G>T	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.9|26.9	4.783205|4.783205	0.90282|0.90282	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000496384|ENST00000288602	.|D	.|0.99931	.|-8.17	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.100477	.|0.64402	.|D	.|0.000002	D|D	0.99953|0.99953	0.9980|0.9980	H|H	0.99225|0.99225	4.475|4.475	0.80722|0.80722	D|D	1|1	.|D	.|0.67145	.|0.996	.|D	.|0.69142	.|0.962	D|D	0.96300|0.96300	0.9220|0.9220	5|10	.|0.87932	.|D	.|0	.|.	17.8428|17.8428	0.88720|0.88720	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|466	.|P15056	.|BRAF_HUMAN	Y|V	74|466	.|ENSP00000288602:G466V	.|ENSP00000288602:G466V	D|G	-|-	1|2	0|0	BRAF|BRAF	140127880|140127880	1.000000|1.000000	0.71417|0.71417	0.926000|0.926000	0.36857|0.36857	0.983000|0.983000	0.72400|0.72400	7.818000|7.818000	0.86416|0.86416	2.637000|2.637000	0.89404|0.89404	0.585000|0.585000	0.79938|0.79938	GAT|GGA		0.378	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		40	74	1	0	5.85753e-14	0.00361	7.52557e-14	40	74				
SARAF	51669	broad.mit.edu	37	8	29931542	29931542	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr8:29931542G>C	ENST00000256255.6	-	2	390	c.133C>G	c.(133-135)Ctt>Gtt	p.L45V	TMEM66_ENST00000545648.1_5'UTR|TMEM66_ENST00000521083.1_5'UTR|TMEM66_ENST00000536273.1_Intron	NM_016127.4	NP_057211.4	Q96BY9	SARAF_HUMAN		45					calcium ion transport (GO:0006816)|regulation of store-operated calcium entry (GO:2001256)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		TGGAGGGTAAGAGCTTTTACA	0.473																																							uc003xhs.2		NA																	0					0						c.(133-135)CTT>GTT		transmembrane protein 66 precursor							134.0	122.0	126.0					8																	29931542		2203	4300	6503	SO:0001583	missense	51669					integral to membrane		g.chr8:29931542G>C																												ENST00000256255.6:c.133C>G	8.37:g.29931542G>C	ENSP00000256255:p.Leu45Val					TMEM66_uc003xht.2_Missense_Mutation_p.L45V|TMEM66_uc003xhu.2_Missense_Mutation_p.L9V|TMEM66_uc003xhv.2_Intron	p.L45V	NM_016127	NP_057211	Q96BY9	TMM66_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)	2	317	-			45					B3KQQ4|B7Z9J1|D3DSU7|H9MHJ8|H9MHJ9|Q53HE8|Q9UNZ3|Q9Y683	Missense_Mutation	SNP	ENST00000256255.6	37	c.133C>G	CCDS6074.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250718	0.59212	.	.	ENSG00000133872	ENST00000256255;ENST00000541035;ENST00000522794;ENST00000523761	T;T;T	0.59906	0.23;0.23;0.23	5.18	4.28	0.50868	.	0.068225	0.64402	D	0.000012	T	0.73401	0.3582	M	0.90252	3.1	0.80722	D	1	D;D	0.63046	0.992;0.992	P;P	0.60236	0.871;0.871	T	0.76945	-0.2771	10	0.72032	D	0.01	-9.2736	6.8845	0.24191	0.0895:0.0:0.7373:0.1733	.	45;45	B3KQQ4;Q96BY9	.;TMM66_HUMAN	V	45;9;9;36	ENSP00000256255:L45V;ENSP00000429630:L9V;ENSP00000428832:L36V	ENSP00000256255:L45V	L	-	1	0	TMEM66	30051084	0.997000	0.39634	0.471000	0.27229	0.898000	0.52572	1.928000	0.40104	2.692000	0.91855	0.655000	0.94253	CTT		0.473	TMEM66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257254.4			35	69	0	0	0	0.004289	0	35	69				
CSMD3	114788	broad.mit.edu	37	8	113988167	113988167	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr8:113988167C>A	ENST00000297405.5	-	7	1485	c.1241G>T	c.(1240-1242)gGg>gTg	p.G414V	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.G374V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G414V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	414						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGAGAGAGCCCGTCCTTGGA	0.473										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(1240-1242)GGG>GTG		CUB and Sushi multiple domains 3 isoform 1							199.0	177.0	184.0					8																	113988167		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113988167C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1241G>T	8.37:g.113988167C>A	ENSP00000297405:p.Gly414Val	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.G374V|CSMD3_uc011lhx.1_Intron	p.G414V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			7	1400	-			414			Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1241G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780010	0.31502	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000352409	T;T;T	0.16743	2.32;2.32;2.32	5.65	2.89	0.33648	.	0.370657	0.19611	N	0.110123	T	0.06554	0.0168	N	0.08118	0	0.43761	D	0.996272	B;B	0.15473	0.008;0.013	B;B	0.19391	0.007;0.025	T	0.28902	-1.0029	10	0.17369	T	0.5	.	1.8617	0.03190	0.1223:0.4682:0.1705:0.239	.	414;374	Q7Z407;Q7Z407-2	CSMD3_HUMAN;.	V	374;414;414	ENSP00000345799:G374V;ENSP00000297405:G414V;ENSP00000343124:G414V	ENSP00000297405:G414V	G	-	2	0	CSMD3	114057343	0.595000	0.26857	0.996000	0.52242	0.992000	0.81027	0.256000	0.18351	0.478000	0.27488	0.655000	0.94253	GGG		0.473	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		61	94	1	0	4.88506e-25	0.00361	6.96839e-25	61	94				
EXT1	2131	broad.mit.edu	37	8	119122794	119122794	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr8:119122794G>C	ENST00000378204.2	-	1	1298	c.492C>G	c.(490-492)gaC>gaG	p.D164E		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	164			D -> H (in EXT1; loss of activity). {ECO:0000269|PubMed:10441575}.		axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GTGACAACTGGTCTCTGTCTA	0.463			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																														uc003yok.1		NA	yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	Mis|N|F|S	multiple exostoses type 1 gene			M		exostoses|osteosarcoma			0				ovary(2)|lung(2)	4						c.(490-492)GAC>GAG		exostosin 1							116.0	131.0	126.0					8																	119122794		2203	4300	6503	SO:0001583	missense	2131	Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:119122794G>C	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.492C>G	8.37:g.119122794G>C	ENSP00000367446:p.Asp164Glu						p.D164E	NM_000127	NP_000118	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		1	1265	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		164	Missing: Abolishes heparan-sulfate biosynthesis.|D->E: Abolishes heparan-sulfate biosynthesis.	D -> H (in EXT1; loss of activity).	Lumenal (Potential).		B2R7V2|Q9BVI9	Missense_Mutation	SNP	ENST00000378204.2	37	c.492C>G	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174452	0.78452	.	.	ENSG00000182197	ENST00000378204	D	0.97529	-4.42	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.98257	0.9423	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.97852	1.0275	10	0.34782	T	0.22	-20.7407	19.5572	0.95357	0.0:0.0:1.0:0.0	.	164	Q16394	EXT1_HUMAN	E	164	ENSP00000367446:D164E	ENSP00000367446:D164E	D	-	3	2	EXT1	119191975	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.888000	0.87302	2.616000	0.88540	0.462000	0.41574	GAC		0.463	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		66	112	0	0	0	0.00361	0	66	112				
KCNQ3	3786	broad.mit.edu	37	8	133196573	133196573	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr8:133196573C>G	ENST00000388996.4	-	3	939	c.519G>C	c.(517-519)ttG>ttC	p.L173F	KCNQ3_ENST00000521134.1_Missense_Mutation_p.L53F|KCNQ3_ENST00000519445.1_Missense_Mutation_p.L173F	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	173					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CCCAGATCCTCAAAGCAAACT	0.532																																							uc003ytj.2		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(517-519)TTG>TTC		potassium voltage-gated channel KQT-like protein							96.0	96.0	96.0					8																	133196573		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133196573C>G	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.519G>C	8.37:g.133196573C>G	ENSP00000373648:p.Leu173Phe					KCNQ3_uc010mdt.2_Missense_Mutation_p.L173F	p.L173F	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		3	744	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		173			Helical; Name=Segment S2; (Potential).		A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.519G>C	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056551	0.76074	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99042	-5.36;-5.36;-5.36	5.87	4.99	0.66335	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98823	0.9603	M	0.74881	2.28	0.46167	D	0.9989	D;D	0.62365	0.991;0.991	P;P	0.62740	0.906;0.906	D	0.99490	1.0950	10	0.87932	D	0	-18.1784	7.4886	0.27447	0.0:0.7491:0.0:0.2509	.	173;173	E7ET42;O43525	.;KCNQ3_HUMAN	F	173;53;173;162;52	ENSP00000373648:L173F;ENSP00000429799:L53F;ENSP00000428790:L173F	ENSP00000373648:L173F	L	-	3	2	KCNQ3	133265755	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	0.923000	0.28757	1.480000	0.48289	0.655000	0.94253	TTG		0.532	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		48	79	0	0	0	0.00361	0	48	79				
DMRT1	1761	broad.mit.edu	37	9	894137	894137	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr9:894137A>T	ENST00000382276.3	+	3	913	c.764A>T	c.(763-765)aAc>aTc	p.N255I	DMRT1_ENST00000569227.1_Missense_Mutation_p.N97I	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	255					cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		CCTGTGAAGAACAGCCTTCGG	0.532											OREG0019071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003zgv.2		NA																	0				ovary(1)	1						c.(763-765)AAC>ATC		doublesex and mab-3 related transcription factor							68.0	73.0	72.0					9																	894137		2203	4300	6503	SO:0001583	missense	1761				cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:894137A>T	AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"""DM domain expressed in testis 1"""	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.764A>T	9.37:g.894137A>T	ENSP00000371711:p.Asn255Ile		OREG0019071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	591	DMRT1_uc003zgu.1_Missense_Mutation_p.N255I	p.N255I	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN		Lung(218;0.037)	3	913	+		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)	255					B2R913|Q6T1H8|Q6T1H9|Q8IW77	Missense_Mutation	SNP	ENST00000382276.3	37	c.764A>T	CCDS6442.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.361720	0.82353	.	.	ENSG00000137090	ENST00000382276	T	0.23348	1.91	5.92	5.92	0.95590	.	0.231068	0.44902	D	0.000404	T	0.52821	0.1758	M	0.77820	2.39	0.54753	D	0.999988	D;D	0.69078	0.993;0.997	P;D	0.69654	0.855;0.965	T	0.56890	-0.7904	10	0.72032	D	0.01	.	16.3996	0.83635	1.0:0.0:0.0:0.0	.	255;255	Q9Y5R6;Q6T1H9	DMRT1_HUMAN;.	I	255	ENSP00000371711:N255I	ENSP00000371711:N255I	N	+	2	0	DMRT1	884137	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	3.461000	0.53035	2.275000	0.75901	0.529000	0.55759	AAC		0.532	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051489.2	NM_021951		27	62	0	0	0	0.004656	0	27	62				
PTPRD	5789	broad.mit.edu	37	9	8389318	8389318	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr9:8389318C>A	ENST00000381196.4	-	34	4843	c.4300G>T	c.(4300-4302)Gaa>Taa	p.E1434*	PTPRD_ENST00000358503.5_Nonsense_Mutation_p.E1412*|PTPRD_ENST00000397606.3_Nonsense_Mutation_p.E1027*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.E1434*|PTPRD_ENST00000355233.5_Nonsense_Mutation_p.E1028*|PTPRD_ENST00000537002.1_Nonsense_Mutation_p.E1024*|PTPRD_ENST00000397617.3_Nonsense_Mutation_p.E1027*|PTPRD_ENST00000486161.1_Nonsense_Mutation_p.E1027*|PTPRD_ENST00000397611.3_Nonsense_Mutation_p.E1024*|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.E1434*|PTPRD_ENST00000360074.4_Nonsense_Mutation_p.E1421*	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1434	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCAAATGTTTCGGGGAGAGAT	0.418										TSP Lung(15;0.13)																													uc003zkk.2		NA																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(4300-4302)GAA>TAA		protein tyrosine phosphatase, receptor type, D							178.0	170.0	173.0					9																	8389318		2203	4300	6503	SO:0001587	stop_gained	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8389318C>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4300G>T	9.37:g.8389318C>A	ENSP00000370593:p.Glu1434*	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Nonsense_Mutation_p.E1028*|PTPRD_uc003zkq.2_Nonsense_Mutation_p.E1027*|PTPRD_uc003zkr.2_Nonsense_Mutation_p.E1018*|PTPRD_uc003zks.2_Nonsense_Mutation_p.E1027*|PTPRD_uc003zkl.2_Nonsense_Mutation_p.E1425*|PTPRD_uc003zkm.2_Nonsense_Mutation_p.E1421*|PTPRD_uc003zkn.2_Nonsense_Mutation_p.E1023*|PTPRD_uc003zko.2_Nonsense_Mutation_p.E1024*	p.E1434*	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	36	5011	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1434			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Nonsense_Mutation	SNP	ENST00000381196.4	37	c.4300G>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	43	10.297402	0.99378	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.119	0.97953	0.0:1.0:0.0:0.0	.	.	.	.	X	1434;1434;1421;1412;1028;1027;1024;1024;905;1434;1027;1027	.	.	E	-	1	0	PTPRD	8379318	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.776000	0.85560	2.763000	0.94921	0.555000	0.69702	GAA		0.418	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			46	113	1	0	6.17242e-35	0.00361	9.50356e-35	46	113				
CTSV	1515	broad.mit.edu	37	9	99798884	99798884	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr9:99798884C>A	ENST00000259470.5	-	5	791	c.542G>T	c.(541-543)gGc>gTc	p.G181V	CTSV_ENST00000538255.1_Missense_Mutation_p.G181V|CTSV_ENST00000479932.1_5'Flank	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	181					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)										AGCCATGAAGCCACCATTGCA	0.512																																							uc004awt.2		NA																	0					0						c.(541-543)GGC>GTC		cathepsin L2 preproprotein							95.0	83.0	87.0					9																	99798884		2203	4300	6503	SO:0001583	missense	1515					lysosome	cysteine-type endopeptidase activity	g.chr9:99798884C>A	Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"""Cathepsins"""	2538	protein-coding gene	gene with protein product		603308	"""cathepsin L2"""	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.542G>T	9.37:g.99798884C>A	ENSP00000259470:p.Gly181Val					CTSL2_uc010msi.2_Missense_Mutation_p.G181V|CTSL2_uc004awu.2_Missense_Mutation_p.G126V|CTSL2_uc010msj.1_Missense_Mutation_p.G126V|CTSL2_uc010msk.2_Missense_Mutation_p.G126V	p.G181V	NM_001333	NP_001324	O60911	CATL2_HUMAN			5	739	-		Acute lymphoblastic leukemia(62;0.0559)	181					O60233|Q2TB86|Q5T1U0	Missense_Mutation	SNP	ENST00000259470.5	37	c.542G>T	CCDS6723.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.105389	0.56291	.	.	ENSG00000136943	ENST00000259470;ENST00000538255	D;D	0.94232	-3.38;-3.38	3.8	3.8	0.43715	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98254	0.9422	H	0.99705	4.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98378	1.0557	9	.	.	.	.	13.9668	0.64213	0.0:1.0:0.0:0.0	.	181;181	B2R717;O60911	.;CATL2_HUMAN	V	181	ENSP00000259470:G181V;ENSP00000445052:G181V	.	G	-	2	0	CTSL2	98838705	1.000000	0.71417	0.990000	0.47175	0.213000	0.24496	7.146000	0.77373	2.444000	0.82710	0.555000	0.69702	GGC		0.512	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053301.2	NM_001333		26	50	1	0	1.85244e-09	0.00333	2.24608e-09	26	50				
SPTAN1	6709	broad.mit.edu	37	9	131371243	131371243	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr9:131371243G>A	ENST00000372731.4	+	35	4692	c.4582G>A	c.(4582-4584)Gag>Aag	p.E1528K	SPTAN1_ENST00000358161.5_Missense_Mutation_p.E1528K|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1528K	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1528					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCGGCGCAATGAGGTCTTGGA	0.572																																					NSCLC(120;833 1744 2558 35612 37579)	NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NA																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(4582-4584)GAG>AAG		spectrin, alpha, non-erythrocytic 1							116.0	119.0	118.0					9																	131371243		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131371243G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4582G>A	9.37:g.131371243G>A	ENSP00000361816:p.Glu1528Lys					SPTAN1_uc004bvm.3_Missense_Mutation_p.E1528K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E1508K	p.E1528K	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			35	4695	+			1528			Spectrin 16.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.4582G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536963	0.85812	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.61392	0.11;0.11;0.11	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.70211	0.3198	L	0.41356	1.27	0.80722	D	1	P;P;D	0.52996	0.59;0.947;0.957	B;D;D	0.68039	0.292;0.924;0.955	T	0.68644	-0.5354	10	0.54805	T	0.06	.	20.3473	0.98799	0.0:0.0:1.0:0.0	.	1508;1528;1528	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	K	1528;1528;1528;1508	ENSP00000350882:E1528K;ENSP00000361816:E1528K;ENSP00000361824:E1528K	ENSP00000350882:E1528K	E	+	1	0	SPTAN1	130411064	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.420000	0.97426	2.884000	0.98904	0.655000	0.94253	GAG		0.572	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		20	158	0	0	0	0.008871	0	20	158				
ZMYND19	116225	broad.mit.edu	37	9	140476996	140476996	+	Nonstop_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr9:140476996C>A	ENST00000298585.2	-	6	909	c.683G>T	c.(682-684)tGa>tTa	p.*228L		NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	0						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synapse (GO:0045202)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CCCTGCCCGTCATCGCTCTGG	0.617																																							uc004cno.1		NA																	0				skin(1)	1						c.(682-684)TGA>TTA		zinc finger, MYND domain containing 19							90.0	66.0	74.0					9																	140476996		2203	4300	6503	SO:0001578	stop_lost	116225					Golgi apparatus|plasma membrane	zinc ion binding	g.chr9:140476996C>A	BC012948	CCDS7048.1	9q34.3	2008-02-05			ENSG00000165724	ENSG00000165724		"""Zinc fingers, MYND-type"""	21146	protein-coding gene	gene with protein product		611424					Standard	NM_138462		Approved	MIZIP	uc004cno.1	Q96E35	OTTHUMG00000020992	ENST00000298585.2:c.683G>T	9.37:g.140476996C>A							p.*228L	NM_138462	NP_612471	Q96E35	ZMY19_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)	6	905	-	all_cancers(76;0.106)		228					Q5T366	Nonstop_Mutation	SNP	ENST00000298585.2	37	c.683G>T	CCDS7048.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876549	0.51801	.	.	ENSG00000165724	ENST00000298585	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7946	0.85598	0.0:1.0:0.0:0.0	.	.	.	.	L	228	.	.	X	-	2	2	ZMYND19	139596817	1.000000	0.71417	0.997000	0.53966	0.654000	0.38779	7.431000	0.80335	2.298000	0.77334	0.561000	0.74099	TGA		0.617	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055356.1	NM_138462		16	42	1	0	2.23348e-06	0.004007	2.47598e-06	16	42				
PHF8	23133	broad.mit.edu	37	X	54040885	54040885	+	Silent	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chrX:54040885G>A	ENST00000357988.5	-	7	1174	c.816C>T	c.(814-816)ctC>ctT	p.L272L	PHF8_ENST00000322659.8_Silent_p.L236L|PHF8_ENST00000338946.6_Silent_p.L236L|PHF8_ENST00000338154.6_Silent_p.L236L	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	272	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GCACACTCATGAGGCAGTACT	0.478																																							uc004dsu.2		NA																	0				ovary(3)	3						c.(814-816)CTC>CTT		PHD finger protein 8							169.0	111.0	131.0					X																	54040885		2203	4300	6503	SO:0001819	synonymous_variant	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54040885G>A	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.816C>T	X.37:g.54040885G>A						PHF8_uc004dst.2_Silent_p.L236L|PHF8_uc004dsv.2_Silent_p.L102L|PHF8_uc004dsw.2_Silent_p.L236L|PHF8_uc004dsx.2_5'UTR|PHF8_uc004dsy.2_Silent_p.L236L	p.L272L	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN			7	889	-			272			JmjC.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Silent	SNP	ENST00000357988.5	37	c.816C>T	CCDS55420.1	.	.	.	.	.	.	.	.	.	.	G	9.861	1.196216	0.22037	.	.	ENSG00000172943	ENST00000396282	.	.	.	5.24	-0.249	0.13011	.	.	.	.	.	T	0.41604	0.1166	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25745	-1.0123	4	.	.	.	-12.4394	1.649	0.02767	0.2427:0.111:0.4404:0.2058	.	.	.	.	L	140	.	.	S	-	2	0	PHF8	54057610	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	0.669000	0.25142	0.109000	0.17891	-0.342000	0.07992	TCA		0.478	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		33	12	0	0	0	0.002445	0	33	12				
ZCCHC5	203430	broad.mit.edu	37	X	77912927	77912927	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chrX:77912927G>A	ENST00000321110.1	-	2	1286	c.991C>T	c.(991-993)Caa>Taa	p.Q331*		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	331							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						TGGCAGAGTTGATGGATGCAC	0.468																																							uc004edc.1		NA																	0				ovary(1)	1						c.(991-993)CAA>TAA		zinc finger, CCHC domain containing 5							72.0	59.0	64.0					X																	77912927		2203	4300	6503	SO:0001587	stop_gained	203430						nucleic acid binding|zinc ion binding	g.chrX:77912927G>A	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.991C>T	X.37:g.77912927G>A	ENSP00000316794:p.Gln331*						p.Q331*	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN			2	1287	-			331					B2RMZ0|Q5JQE9	Nonsense_Mutation	SNP	ENST00000321110.1	37	c.991C>T	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940091	0.52972	.	.	ENSG00000179300	ENST00000321110	.	.	.	3.2	1.3	0.21679	.	0.755546	0.10283	U	0.693326	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	7.1407	0.25554	0.0:0.0:0.4875:0.5125	.	.	.	.	X	331	.	ENSP00000316794:Q331X	Q	-	1	0	ZCCHC5	77799583	0.311000	0.24536	0.002000	0.10522	0.010000	0.07245	1.708000	0.37899	0.191000	0.20236	0.506000	0.49869	CAA		0.468	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		17	4	0	0	0	0.00499	0	17	4				
ZBTB33	10009	broad.mit.edu	37	X	119387407	119387407	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chrX:119387407A>T	ENST00000326624.2	+	2	365	c.137A>T	c.(136-138)cAc>cTc	p.H46L	ZBTB33_ENST00000557385.1_Missense_Mutation_p.H46L	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	46	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.|Interaction with NCOR1.|Self-association. {ECO:0000250}.				intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTCCGGGCTCACAAGAATATT	0.453																																							uc004esn.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(136-138)CAC>CTC		kaiso							172.0	172.0	172.0					X																	119387407		2203	4300	6503	SO:0001583	missense	10009				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding	g.chrX:119387407A>T	BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.137A>T	X.37:g.119387407A>T	ENSP00000314153:p.His46Leu					ZBTB33_uc010nqm.1_Missense_Mutation_p.H46L	p.H46L	NM_006777	NP_006768	Q86T24	KAISO_HUMAN			2	365	+			46			BTB.|Self-association (By similarity).|Interaction with NCOR1.		B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Missense_Mutation	SNP	ENST00000326624.2	37	c.137A>T	CCDS14596.1	.	.	.	.	.	.	.	.	.	.	A	17.79	3.476734	0.63849	.	.	ENSG00000177485;ENSG00000177485;ENSG00000258974	ENST00000326624;ENST00000540105;ENST00000557385	T;T	0.37235	1.21;1.21	5.96	5.96	0.96718	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.70518	0.3233	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79699	-0.1694	10	0.87932	D	0	-9.4356	14.4615	0.67453	1.0:0.0:0.0:0.0	.	46	Q86T24	KAISO_HUMAN	L	46	ENSP00000314153:H46L;ENSP00000450969:H46L	ENSP00000314153:H46L	H	+	2	0	ZBTB33;AC002086.1	119271435	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.962000	0.93254	2.014000	0.59158	0.481000	0.45027	CAC		0.453	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2	NM_006777		116	63	0	0	0	0.00361	0	116	63				
L1CAM	3897	broad.mit.edu	37	X	153136268	153136268	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chrX:153136268G>A	ENST00000370060.1	-	7	860	c.671C>T	c.(670-672)cCc>cTc	p.P224L	L1CAM_ENST00000538883.1_Missense_Mutation_p.P226L|L1CAM_ENST00000370055.1_Missense_Mutation_p.P219L|L1CAM_ENST00000361699.4_Missense_Mutation_p.P224L|L1CAM_ENST00000543994.1_Missense_Mutation_p.P226L|L1CAM_ENST00000370057.3_Missense_Mutation_p.P224L|L1CAM_ENST00000361981.3_Missense_Mutation_p.P219L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	224	Ig-like C2-type 2.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGGTCAATGGGTTCCTTCTG	0.572																																							uc004fjb.2		NA																	0				ovary(8)|central_nervous_system(1)	9						c.(670-672)CCC>CTC		L1 cell adhesion molecule isoform 1 precursor							250.0	182.0	205.0					X																	153136268		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153136268G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.671C>T	X.37:g.153136268G>A	ENSP00000359077:p.Pro224Leu					L1CAM_uc004fjc.2_Missense_Mutation_p.P224L|L1CAM_uc010nuo.2_Missense_Mutation_p.P219L|L1CAM_uc004fjd.1_Missense_Mutation_p.P38L|L1CAM_uc004fje.1_Missense_Mutation_p.P219L	p.P224L	NM_000425	NP_000416	P32004	L1CAM_HUMAN			6	779	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		224			Extracellular (Potential).|Ig-like C2-type 2.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.671C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439729	0.83885	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000540065;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.62498	0.03;0.03;0.03;0.04;0.06;0.06;0.02	4.37	4.37	0.52481	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.104497	0.41823	D	0.000803	T	0.78848	0.4348	M	0.81682	2.555	0.80722	D	1	D;P;D	0.69078	0.997;0.948;0.997	D;P;D	0.74674	0.973;0.613;0.984	T	0.81116	-0.1079	10	0.49607	T	0.09	.	15.1188	0.72426	0.0:0.0:1.0:0.0	.	219;224;224	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	L	224;226;224;226;219;94;219;224	ENSP00000359077:P224L;ENSP00000438430:P226L;ENSP00000359074:P224L;ENSP00000439645:P226L;ENSP00000354712:P219L;ENSP00000359072:P219L;ENSP00000355380:P224L	ENSP00000355380:P224L	P	-	2	0	L1CAM	152789462	1.000000	0.71417	0.995000	0.50966	0.853000	0.48598	7.276000	0.78559	2.161000	0.67846	0.436000	0.28706	CCC		0.572	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		27	30	0	0	0	0.005443	0	27	30				
C10orf25	220979	broad.mit.edu	37	10	45496165	45496165	+	Frame_Shift_Del	DEL	G	G	-	rs368637839		TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr10:45496165delG	ENST00000298298.1	-	1	171	c.143delC	c.(142-144)ccafs	p.P48fs	CEP164P1_ENST00000456938.2_RNA|ZNF22_ENST00000298299.3_5'UTR	NM_001039380.2	NP_001034469.2	Q5T742	CJ025_HUMAN	chromosome 10 open reading frame 25	48						extracellular region (GO:0005576)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6						GCTAGAGTTTGGTTTCAAAAG	0.483																																							uc001jbv.1		NA																	0					0						c.(142-144)CCAfs		hypothetical protein LOC220979 precursor							58.0	61.0	60.0					10																	45496165		2203	4300	6503	SO:0001589	frameshift_variant	220979					extracellular region		g.chr10:45496165delG	AK055129	CCDS31187.1	10q11.21	2003-11-21			ENSG00000165511	ENSG00000165511			23509	protein-coding gene	gene with protein product							Standard	NM_001039380		Approved	FLJ30567	uc001jbv.2	Q5T742	OTTHUMG00000018066	ENST00000298298.1:c.143delC	10.37:g.45496165delG	ENSP00000298298:p.Pro48fs					C10orf25_uc010qff.1_RNA|ZNF22_uc001jbw.2_5'Flank	p.P48fs	NM_001039380	NP_001034469	Q5T742	CJ025_HUMAN			1	172	-			48					A1L424|Q96NM5	Frame_Shift_Del	DEL	ENST00000298298.1	37	c.143delC	CCDS31187.1																																																																																				0.483	C10orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047763.1	NM_145022		15	28	NA	NA	NA	NA	NA	15	28	---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1017661	1017663	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr11:1017661_1017663delTGT	ENST00000421673.2	-	31	5188_5190	c.5138_5140delACA	c.(5137-5142)aacatc>atc	p.N1713del		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1713	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTGGGGGTGATGTTGGTGGTAGA	0.527																																							uc001lsw.2		NA																	0				ovary(1)	1						c.(5137-5142)AACATC>ATC		mucin 6, gastric																																				SO:0001651	inframe_deletion	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1017661_1017663delTGT	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5138_5140delACA	11.37:g.1017661_1017663delTGT	ENSP00000406861:p.Asn1713del						p.N1713del	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	5189_5191	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1713			Thr-rich.|1; truncated.|Approximate repeats.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	In_Frame_Del	DEL	ENST00000421673.2	37	c.5138_5140delACA	CCDS44513.1																																																																																				0.527	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		7	923	NA	NA	NA	NA	NA	7	923	---	---	---	---
KRT73	319101	broad.mit.edu	37	12	53012229	53012229	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:53012229delC	ENST00000305748.3	-	1	114	c.80delG	c.(79-81)ggcfs	p.G27fs		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	27	Gly-rich.|Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGATGAGCTGCCCCCTGAGAG	0.632																																							uc001sas.2		NA																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(79-81)GGCfs		keratin 73							44.0	51.0	49.0					12																	53012229		2203	4300	6503	SO:0001589	frameshift_variant	319101					keratin filament	structural molecule activity	g.chr12:53012229delC	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.80delG	12.37:g.53012229delC	ENSP00000307014:p.Gly27fs						p.G27fs	NM_175068	NP_778238	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	115	-			27			Head.|Gly-rich.		Q32MB2	Frame_Shift_Del	DEL	ENST00000305748.3	37	c.80delG	CCDS8834.1																																																																																				0.632	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		54	88	NA	NA	NA	NA	NA	54	88	---	---	---	---
HAL	3034	broad.mit.edu	37	12	96388596	96388604	+	Splice_Site	DEL	TGCTGTATC	TGCTGTATC	-	rs147252912		TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	TGCTGTATC	TGCTGTATC	-	-	TGCTGTATC	TGCTGTATC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:96388596_96388604delTGCTGTATC	ENST00000261208.3	-	4	677_684	c.309_316delGATACAGCA	c.(307-318)ctgatacagcaa>ctaa	p.IQQ104del	HAL_ENST00000541929.1_5'UTR|RP11-256L6.3_ENST00000551849.1_RNA|HAL_ENST00000538703.1_Splice_Site_p.IQQ104del	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	104					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	TCCCGGTACTTGCTGTATCTGTATCCAGG	0.483																																					NSCLC(169;943 2815 23563 30031)	NSCLC(169;943 2815 23563 30031)	uc001tem.1		NA																	0				ovary(2)|skin(1)	3						c.e4-1		histidine ammonia-lyase	L-Histidine(DB00117)																																			SO:0001630	splice_region_variant	3034				biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	g.chr12:96388596_96388604delTGCTGTATC		CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.309-1GATACAGCA>-	12.37:g.96388596_96388604delTGCTGTATC						HAL_uc009zti.1_Splice_Site|HAL_uc010suw.1_Splice_Site|HAL_uc010sux.1_Splice_Site_p.L103_splice	p.L103_splice	NM_002108	NP_002099	P42357	HUTH_HUMAN			4	606	-								B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Splice_Site	DEL	ENST00000261208.3	37	c.309_splice	CCDS9058.1																																																																																				0.483	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1		In_Frame_Del	37	107	NA	NA	NA	NA	NA	37	107	---	---	---	---
MED16	10025	broad.mit.edu	37	19	889717	889717	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:889717delC	ENST00000589119.1	-	3	367	c.368delG	c.(367-369)ggcfs	p.G123fs	MED16_ENST00000606828.1_Intron|MED16_ENST00000395808.3_Frame_Shift_Del_p.G123fs|MED16_ENST00000325464.1_Frame_Shift_Del_p.G123fs|MED16_ENST00000269814.4_Frame_Shift_Del_p.G123fs|MED16_ENST00000312090.6_Frame_Shift_Del_p.G123fs			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	123					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACTAGGCTGCCCACTGAGCT	0.627																																							uc002lqd.1		NA																	0					0						c.(367-369)GGCfs		mediator complex subunit 16							61.0	45.0	50.0					19																	889717		2203	4300	6503	SO:0001589	frameshift_variant	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:889717delC	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.368delG	19.37:g.889717delC	ENSP00000464810:p.Gly123fs					MED16_uc002lqe.2_Frame_Shift_Del_p.G112fs|MED16_uc002lqf.2_Frame_Shift_Del_p.G112fs|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Frame_Shift_Del_p.G112fs|MED16_uc010xfx.1_Frame_Shift_Del_p.G112fs|MED16_uc010xfy.1_Frame_Shift_Del_p.G112fs	p.G123fs	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	519	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	123					Q6PJT2|Q96AD4|Q96I35|Q9Y652	Frame_Shift_Del	DEL	ENST00000589119.1	37	c.368delG	CCDS12047.1																																																																																				0.627	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		15	15	NA	NA	NA	NA	NA	15	15	---	---	---	---
STK11	6794	broad.mit.edu	37	19	1220432	1220432	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:1220432delG	ENST00000326873.7	+	4	1698	c.525delG	c.(523-525)aagfs	p.K175fs		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	175	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.Y156fs*87(4)|p.?(4)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGTGCACAAGGACATCAAGC	0.657		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													uc002lrl.1		14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	D|Mis|N|F|S	serine/threonine kinase 11 gene (LKB1)			"""E, M, O"""		jejunal harmartoma|ovarian|testicular|pancreatic	NSCLC|pancreatic		28	Whole gene deletion(20)|Unknown(4)|Deletion - Frameshift(4)	p.0?(19)|p.Y156fs*87(4)|p.?(4)|p.G52_P179del(1)	cervix(15)|lung(9)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266						c.(523-525)AAGfs		serine/threonine protein kinase 11							44.0	51.0	49.0					19																	1220432		2102	4242	6344	SO:0001589	frameshift_variant	6794	Peutz-Jeghers_syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:1220432delG	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.525delG	19.37:g.1220432delG	ENSP00000324856:p.Lys175fs	TSP Lung(3;<1E-08)					p.K175fs	NM_000455	NP_000446	Q15831	STK11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1640	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)	175			Protein kinase.		B2RBX7|E7EW76	Frame_Shift_Del	DEL	ENST00000326873.7	37	c.525delG	CCDS45896.1																																																																																				0.657	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		7	7	NA	NA	NA	NA	NA	7	7	---	---	---	---
ZNF28	7576	broad.mit.edu	37	19	53303512	53303512	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:53303512delC	ENST00000457749.2	-	4	1705	c.1586delG	c.(1585-1587)ggcfs	p.G529fs	ZNF28_ENST00000414252.2_Frame_Shift_Del_p.G476fs|ZNF28_ENST00000360272.4_Frame_Shift_Del_p.G476fs|ZNF28_ENST00000438150.2_Frame_Shift_Del_p.G476fs	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	529					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)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		AAAAACCTTGCCACATTCATT	0.388																																							uc002qad.2		NA																	0				skin(1)	1						c.(1585-1587)GGCfs		zinc finger protein 28							92.0	90.0	90.0					19																	53303512		2203	4300	6503	SO:0001589	frameshift_variant	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303512delC	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1586delG	19.37:g.53303512delC	ENSP00000397693:p.Gly529fs					ZNF28_uc002qac.2_Frame_Shift_Del_p.G476fs|ZNF28_uc010eqe.2_Frame_Shift_Del_p.G475fs	p.G529fs	NM_006969	NP_008900	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	4	1706	-			529			C2H2-type 12.		A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Frame_Shift_Del	DEL	ENST00000457749.2	37	c.1586delG	CCDS33093.2																																																																																				0.388	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		46	106	NA	NA	NA	NA	NA	46	106	---	---	---	---
USP29	57663	broad.mit.edu	37	19	57640737	57640738	+	Frame_Shift_Ins	INS	-	-	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:57640737_57640738insC	ENST00000254181.4	+	4	1148_1149	c.694_695insC	c.(694-696)tgtfs	p.C232fs	USP29_ENST00000598197.1_Frame_Shift_Ins_p.C232fs	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	232					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAATACCAACTGTAATGGAAAT	0.396																																							uc002qny.2		NA																	0				lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(694-696)TGTfs		ubiquitin specific peptidase 29																																				SO:0001589	frameshift_variant	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640737_57640738insC		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		Exception_encountered	19.37:g.57640737_57640738insC	ENSP00000254181:p.Cys232fs						p.C232fs	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1050_1051	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	232						Frame_Shift_Ins	INS	ENST00000254181.4	37	c.694_695insC	CCDS33124.1																																																																																				0.396	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			45	94	NA	NA	NA	NA	NA	45	94	---	---	---	---
SATB1	6304	broad.mit.edu	37	3	18436169	18436180	+	In_Frame_Del	DEL	ACTGCTGGTTCA	ACTGCTGGTTCA	-	rs201021274	byFrequency	TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	ACTGCTGGTTCA	ACTGCTGGTTCA	-	-	ACTGCTGGTTCA	ACTGCTGGTTCA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr3:18436169_18436180delACTGCTGGTTCA	ENST00000338745.6	-	7	2714_2725	c.980_991delTGAACCAGCAGT	c.(979-993)ctgaaccagcagtat>cat	p.327_331LNQQY>H	SATB1_ENST00000417717.2_In_Frame_Del_p.327_331LNQQY>H|SATB1_ENST00000475083.1_5'Flank|SATB1_ENST00000454909.2_In_Frame_Del_p.327_331LNQQY>H|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	327					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTCACTGCATACTGCTGGTTCAGCAGCTGAGC	0.505																																							uc003cbh.2		NA																	0				skin(2)|ovary(1)|lung(1)	4						c.(979-993)CTGAACCAGCAGTAT>CAT		special AT-rich sequence binding protein 1																																				SO:0001651	inframe_deletion	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18436169_18436180delACTGCTGGTTCA		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.980_991delTGAACCAGCAGT	3.37:g.18436169_18436180delACTGCTGGTTCA	ENSP00000341024:p.Leu327_Tyr331delinsHis					SATB1_uc003cbi.2_In_Frame_Del_p.327_331LNQQY>H|SATB1_uc003cbj.2_In_Frame_Del_p.327_331LNQQY>H	p.327_331LNQQY>H	NM_002971	NP_002962	Q01826	SATB1_HUMAN			7	2715_2726	-			327_331					B3KXF1|C9JTR6|Q59EQ0	In_Frame_Del	DEL	ENST00000338745.6	37	c.980_991delTGAACCAGCAGT	CCDS2631.1																																																																																				0.505	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		29	96	NA	NA	NA	NA	NA	29	96	---	---	---	---
NMUR2	56923	broad.mit.edu	37	5	151784497	151784497	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:151784497delC	ENST00000255262.3	-	1	343	c.178delG	c.(178-180)gtcfs	p.V60fs	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	60					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			TTGCCAATGACCCCCACCACA	0.577																																							uc003luv.2		NA																	0				ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8						c.(178-180)GTCfs		neuromedin U receptor 2							105.0	97.0	100.0					5																	151784497		2203	4300	6503	SO:0001589	frameshift_variant	56923				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	g.chr5:151784497delC	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.178delG	5.37:g.151784497delC	ENSP00000255262:p.Val60fs						p.V60fs	NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		1	344	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	60			Helical; Name=1; (Potential).		Q7LC54|Q96AM5|Q9NRA6	Frame_Shift_Del	DEL	ENST00000255262.3	37	c.178delG	CCDS4321.1																																																																																				0.577	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		28	50	NA	NA	NA	NA	NA	28	50	---	---	---	---
AARS2	57505	broad.mit.edu	37	6	44278144	44278144	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr6:44278144delC	ENST00000244571.4	-	5	788	c.786delG	c.(784-786)cggfs	p.R262fs	RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGTCCACATGCCGCTGGGGCA	0.607																																							uc010jza.1		NA																	0				ovary(1)	1						c.(784-786)CGGfs		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						105.0	84.0	91.0					6																	44278144		2203	4300	6503	SO:0001589	frameshift_variant	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44278144delC	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.786delG	6.37:g.44278144delC	ENSP00000244571:p.Arg262fs					SPATS1_uc003oxg.2_Intron	p.R262fs	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		5	789	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		262						Frame_Shift_Del	DEL	ENST00000244571.4	37	c.786delG	CCDS34464.1																																																																																				0.607	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		7	34	NA	NA	NA	NA	NA	7	34	---	---	---	---
RBM10	8241	broad.mit.edu	37	X	47032582	47032582	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chrX:47032582delG	ENST00000377604.3	+	5	1230	c.488delG	c.(487-489)cggfs	p.R163fs	RBM10_ENST00000329236.7_Frame_Shift_Del_p.R86fs|RBM10_ENST00000345781.6_Frame_Shift_Del_p.R86fs	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	163	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CGGCTGATGCGGAACAAATCT	0.602																																					Melanoma(171;120 2705 19495 39241)	Melanoma(171;120 2705 19495 39241)	uc004dhf.2		NA																	0				ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						c.(487-489)CGGfs		RNA binding motif protein 10 isoform 1							98.0	76.0	83.0					X																	47032582		2203	4300	6503	SO:0001589	frameshift_variant	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47032582delG	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.488delG	X.37:g.47032582delG	ENSP00000366829:p.Arg163fs					RBM10_uc004dhe.1_Frame_Shift_Del_p.R153fs|RBM10_uc004dhg.2_Frame_Shift_Del_p.R86fs|RBM10_uc004dhh.2_Frame_Shift_Del_p.R163fs|RBM10_uc010nhq.2_Frame_Shift_Del_p.R86fs|RBM10_uc004dhi.2_Frame_Shift_Del_p.R228fs	p.R163fs	NM_005676	NP_005667	P98175	RBM10_HUMAN			5	867	+			163			RRM 1.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Frame_Shift_Del	DEL	ENST00000377604.3	37	c.488delG	CCDS14274.1																																																																																				0.602	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		19	7	NA	NA	NA	NA	NA	19	7	---	---	---	---
