#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
MASP2	10747	broad.mit.edu	37	1	11103420	11103420	+	Silent	SNP	G	G	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr1:11103420G>C	ENST00000400897.3	-	5	732	c.717C>G	c.(715-717)acC>acG	p.T239T		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	239	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		AGGGACACAGGGTTTCAGGGT	0.567																																					GBM(35;611 746 20780 22741 36496)	GBM(35;611 746 20780 22741 36496)	uc001aru.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(715-717)ACC>ACG		mannan-binding lectin serine protease 2 isoform							65.0	50.0	55.0					1																	11103420		2199	4300	6499	SO:0001819	synonymous_variant	10747				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	g.chr1:11103420G>C	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"""mannan-binding lectin serine protease 2"", ""mannan-binding lectin serine peptidase 1 pseudogene 1"", ""mannan-binding lectin serine protease 1 pseudogene 1"""	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.717C>G	1.37:g.11103420G>C							p.T239T	NM_006610	NP_006601	O00187	MASP2_HUMAN	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	5	738	-	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	239			CUB 2.		A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Silent	SNP	ENST00000400897.3	37	c.717C>G	CCDS123.1																																																																																				0.567	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610		7	8	0	0	0	0.038147	0	7	8				
RSC1A1	6248	broad.mit.edu	37	1	15986768	15986768	+	Silent	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr1:15986768C>T	ENST00000345034.1	+	1	405	c.405C>T	c.(403-405)gtC>gtT	p.V135V	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	135					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTTTATCTGTCACATCTACTA	0.438																																							uc010obn.1		NA																	0				ovary(1)	1						c.(403-405)GTC>GTT		regulatory solute carrier protein, family 1,							99.0	96.0	97.0					1																	15986768		2203	4300	6503	SO:0001819	synonymous_variant	6248				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity	g.chr1:15986768C>T	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.405C>T	1.37:g.15986768C>T							p.V135V	NM_006511	NP_006502	Q92681	RSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	405	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	135					B2RBP5	Silent	SNP	ENST00000345034.1	37	c.405C>T	CCDS161.1																																																																																				0.438	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511		20	81	0	0	0	0.055883	0	20	81				
MACF1	23499	broad.mit.edu	37	1	39768595	39768595	+	Splice_Site	SNP	G	G	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr1:39768595G>C	ENST00000372915.3	+	22	2736		c.e22-1		MACF1_ENST00000317713.7_Splice_Site|MACF1_ENST00000564288.1_Splice_Site|MACF1_ENST00000476350.1_Splice_Site|MACF1_ENST00000361689.2_Splice_Site|MACF1_ENST00000545844.1_Splice_Site|MACF1_ENST00000539005.1_Splice_Site|MACF1_ENST00000567887.1_Splice_Site			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TATCTCTTCAGATTACTATTT	0.398																																							uc010ois.1		NA																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.e24-1		microfilament and actin filament cross-linker							55.0	56.0	55.0					1																	39768595		2203	4300	6503	SO:0001630	splice_region_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39768595G>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.2650-1G>C	1.37:g.39768595G>C						MACF1_uc001cda.1_Splice_Site_p.I792_splice|MACF1_uc001cdc.1_Splice_Site|MACF1_uc009vvq.1_Intron|MACF1_uc001cdb.1_Splice_Site	p.I884_splice	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		24	2855	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)						B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Splice_Site	SNP	ENST00000372915.3	37	c.2650_splice		.	.	.	.	.	.	.	.	.	.	G	24.7	4.558100	0.86231	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372925	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.555	0.95342	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MACF1	39541182	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.869000	0.99810	2.640000	0.89533	0.655000	0.94253	.		0.398	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	Intron	22	19	0	0	0	0.034045	0	22	19				
SV2A	9900	broad.mit.edu	37	1	149884879	149884879	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr1:149884879G>T	ENST00000369146.3	-	2	1004	c.514C>A	c.(514-516)Ctt>Att	p.L172I	SV2A_ENST00000369145.1_Missense_Mutation_p.L172I	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	172					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GCCAGACCAAGCACAAAATAC	0.572																																							uc001etg.2		NA																	0				ovary(6)|pancreas(1)	7						c.(514-516)CTT>ATT		synaptic vesicle glycoprotein 2	Levetiracetam(DB01202)						109.0	105.0	106.0					1																	149884879		2203	4300	6503	SO:0001583	missense	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149884879G>T	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.514C>A	1.37:g.149884879G>T	ENSP00000358142:p.Leu172Ile					SV2A_uc001eth.2_Missense_Mutation_p.L172I	p.L172I	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	1005	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		172			Helical; (Potential).		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	ENST00000369146.3	37	c.514C>A	CCDS940.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809730	0.90707	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	T;T	0.61980	0.06;0.06	5.02	5.02	0.67125	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000004	T	0.72211	0.3432	M	0.71581	2.175	0.80722	D	1	D	0.60575	0.988	D	0.69824	0.966	T	0.68784	-0.5317	10	0.32370	T	0.25	-15.8949	17.5091	0.87755	0.0:0.0:1.0:0.0	.	172	Q7L0J3	SV2A_HUMAN	I	172	ENSP00000358142:L172I;ENSP00000358141:L172I	ENSP00000358141:L172I	L	-	1	0	SV2A	148151503	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.734000	0.62043	2.606000	0.88127	0.655000	0.94253	CTT		0.572	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			26	57	1	0	7.92952e-12	0.0918	9.37752e-12	26	57				
SH2D2A	9047	broad.mit.edu	37	1	156777073	156777073	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr1:156777073T>G	ENST00000368199.3	-	8	1220	c.1067A>C	c.(1066-1068)cAc>cCc	p.H356P	SH2D2A_ENST00000392306.2_Missense_Mutation_p.H366P|SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	356	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGGGGCTGGTGGGGCAGGGG	0.597																																							uc001fqd.2		NA																	0					0						c.(1066-1068)CAC>CCC		SH2 domain protein 2A isoform 2							16.0	18.0	17.0					1																	156777073		2201	4299	6500	SO:0001583	missense	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156777073T>G	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.1067A>C	1.37:g.156777073T>G	ENSP00000357182:p.His356Pro					SH2D2A_uc001fqc.1_Missense_Mutation_p.H328P|SH2D2A_uc009wsh.2_Missense_Mutation_p.H366P|SH2D2A_uc001fqe.2_Missense_Mutation_p.H338P|SH2D2A_uc010phs.1_Missense_Mutation_p.H356P	p.H356P	NM_003975	NP_003966	Q9NP31	SH22A_HUMAN			8	1207	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		356			Pro-rich.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	c.1067A>C	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	T	7.673	0.687372	0.14973	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.57107	0.45;0.42;0.87	4.24	1.63	0.23807	.	2.261830	0.01799	N	0.032797	T	0.21761	0.0524	L	0.27053	0.805	0.09310	N	1	P;B;B	0.35982	0.531;0.396;0.396	B;B;B	0.37833	0.259;0.133;0.094	T	0.18650	-1.0330	10	0.49607	T	0.09	-4.3545	4.3832	0.11304	0.2016:0.0:0.2094:0.5889	.	366;338;356	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	P	356;338;366	ENSP00000357182:H356P;ENSP00000357181:H338P;ENSP00000376123:H366P	ENSP00000357181:H338P	H	-	2	0	SH2D2A	155043697	0.049000	0.20398	0.024000	0.17045	0.664000	0.39144	0.065000	0.14466	0.745000	0.32763	0.374000	0.22700	CAC		0.597	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		4	31	0	0	0	0.080935	0	4	31				
FCRL4	83417	broad.mit.edu	37	1	157551402	157551402	+	Missense_Mutation	SNP	C	C	T	rs146388580	byFrequency	TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr1:157551402C>T	ENST00000271532.1	-	7	1303	c.1168G>A	c.(1168-1170)Gcg>Acg	p.A390T	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	390					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A390T(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GTGGCTCCCGCGGCGACAAGG	0.572																																							uc001fqw.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)|kidney(1)|skin(1)	4						c.(1168-1170)GCG>ACG		Fc receptor-like 4 precursor		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	47.0	45.0	45.0		1168	0.9	0.0	1	dbSNP_134	45	12,8588	8.4+/-32.0	0,12,4288	yes	missense	FCRL4	NM_031282.2	58	0,13,6490	TT,TC,CC		0.1395,0.0227,0.1	possibly-damaging	390/516	157551402	13,12993	2203	4300	6503	SO:0001583	missense	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157551402C>T	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1168G>A	1.37:g.157551402C>T	ENSP00000271532:p.Ala390Thr					FCRL4_uc010phy.1_RNA	p.A390T	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN			7	1304	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	390			Helical; (Potential).		Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	c.1168G>A	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256389	0.39896	2.27E-4	0.001395	ENSG00000163518	ENST00000271532	T	0.20200	2.09	4.63	0.866	0.19079	.	2.145430	0.02701	N	0.111702	T	0.04497	0.0123	L	0.34521	1.04	0.09310	N	1	D	0.56746	0.977	B	0.37198	0.243	T	0.20638	-1.0269	10	0.22706	T	0.39	.	5.7537	0.18160	0.4265:0.478:0.0:0.0956	.	390	Q96PJ5	FCRL4_HUMAN	T	390	ENSP00000271532:A390T	ENSP00000271532:A390T	A	-	1	0	FCRL4	155818026	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.369000	0.07533	0.265000	0.21872	0.467000	0.42956	GCG		0.572	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		5	37	0	0	0	0.014758	0	5	37				
UHMK1	127933	broad.mit.edu	37	1	162470776	162470776	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr1:162470776G>T	ENST00000489294.1	+	3	793	c.635G>T	c.(634-636)gGc>gTc	p.G212V	UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_Missense_Mutation_p.G212V|UHMK1_ENST00000545294.1_Missense_Mutation_p.G138V	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	212	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740)			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GCCCAGGCTGGCCTGCAGAGT	0.418																																							uc001gcc.1		NA																	0					0						c.(634-636)GGC>GTC		kinase interacting stathmin							99.0	93.0	95.0					1																	162470776		2203	4300	6503	SO:0001583	missense	127933				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding	g.chr1:162470776G>T	BC026046	CCDS1239.1, CCDS53423.1, CCDS53424.1	1q23.1	2013-02-12			ENSG00000152332	ENSG00000152332		"""RNA binding motif (RRM) containing"""	19683	protein-coding gene	gene with protein product		608849				12093740, 12782393	Standard	NM_175866		Approved	KIS, Kist	uc001gcc.2	Q8TAS1	OTTHUMG00000031373	ENST00000489294.1:c.635G>T	1.37:g.162470776G>T	ENSP00000420270:p.Gly212Val					UHMK1_uc001gcb.1_Missense_Mutation_p.G138V|UHMK1_uc009wuu.1_Missense_Mutation_p.G212V	p.G212V	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		3	771	+	all_hematologic(112;0.115)		212			Protein kinase.		A8K8K4|G3V1M1|Q96C22	Missense_Mutation	SNP	ENST00000489294.1	37	c.635G>T	CCDS1239.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660028	0.88154	.	.	ENSG00000152332	ENST00000545294;ENST00000538489;ENST00000489294	T;T;T	0.80393	-0.35;-1.37;-1.24	4.97	4.97	0.65823	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87924	0.6300	M	0.78456	2.415	.	.	.	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.87578	0.996;0.998;0.961	D	0.88986	0.3411	9	0.87932	D	0	-1.3304	15.4351	0.75140	0.0:0.0:1.0:0.0	.	212;212;138	Q8TAS1-2;Q8TAS1;G3V1M1	.;UHMK1_HUMAN;.	V	138;212;212	ENSP00000441226:G138V;ENSP00000446416:G212V;ENSP00000420270:G212V	ENSP00000420270:G212V	G	+	2	0	UHMK1	160737400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.675000	0.91195	2.740000	0.93945	0.650000	0.86243	GGC		0.418	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076788.1	NM_175866		23	74	1	0	2.12542e-12	0.030593	2.53558e-12	23	74				
KCNT2	343450	broad.mit.edu	37	1	196227494	196227494	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr1:196227494C>T	ENST00000294725.9	-	26	3956	c.3041G>A	c.(3040-3042)aGc>aAc	p.S1014N	KCNT2_ENST00000609185.1_Missense_Mutation_p.S947N|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.S948N|KCNT2_ENST00000367433.5_Missense_Mutation_p.S990N			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1014					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CCACTGCATGCTTTTTCTCCG	0.517																																							uc001gtd.1		NA																	0				ovary(5)|breast(1)|skin(1)	7						c.(3040-3042)AGC>AAC		potassium channel, subfamily T, member 2							176.0	146.0	156.0					1																	196227494		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196227494C>T	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.3041G>A	1.37:g.196227494C>T	ENSP00000294725:p.Ser1014Asn					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.S947N|KCNT2_uc001gtf.1_Missense_Mutation_p.S990N|KCNT2_uc001gtg.1_RNA|KCNT2_uc001gth.1_Missense_Mutation_p.S518N	p.S1014N	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			26	3101	-			1014			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.3041G>A	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746035	0.89663	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.31247	1.5;1.58;1.97	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000001	T	0.61763	0.2373	M	0.83603	2.65	0.80722	D	1	D;P;D;P	0.89917	1.0;0.917;0.986;0.864	D;P;P;P	0.76071	0.987;0.81;0.864;0.65	T	0.63523	-0.6618	10	0.54805	T	0.06	-18.6939	19.9118	0.97027	0.0:1.0:0.0:0.0	.	979;990;947;1014	Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	N	990;948;1014	ENSP00000356403:S990N;ENSP00000356401:S948N;ENSP00000294725:S1014N	ENSP00000294725:S1014N	S	-	2	0	KCNT2	194494117	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.487000	0.81328	2.710000	0.92621	0.643000	0.83706	AGC		0.517	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		13	69	0	0	0	0.028581	0	13	69				
USH2A	7399	broad.mit.edu	37	1	216246299	216246299	+	Missense_Mutation	SNP	C	C	A	rs200348779		TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr1:216246299C>A	ENST00000307340.3	-	29	6175	c.5789G>T	c.(5788-5790)cGa>cTa	p.R1930L	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.R1930L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1930	Fibronectin type-III 5. {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)		GGCTATCACTCGATACAGGTA	0.403										HNSCC(13;0.011)																													uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(5788-5790)CGA>CTA		usherin isoform B							121.0	109.0	113.0					1																	216246299		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.chr1:216246299C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5789G>T	1.37:g.216246299C>A	ENSP00000305941:p.Arg1930Leu	HNSCC(13;0.011)					p.R1930L	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	29	6176	-			1930			Fibronectin type-III 5.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5789G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674185	0.88445	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.51071	0.72;0.72	6.02	5.09	0.68999	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.40385	N	0.001117	T	0.52354	0.1729	M	0.70595	2.14	0.52099	D	0.999942	P	0.41910	0.764	B	0.40901	0.343	T	0.59511	-0.7441	10	0.66056	D	0.02	.	16.5478	0.84451	0.1316:0.8684:0.0:0.0	.	1930	O75445	USH2A_HUMAN	L	1930	ENSP00000305941:R1930L;ENSP00000355910:R1930L	ENSP00000305941:R1930L	R	-	2	0	USH2A	214312922	1.000000	0.71417	0.891000	0.34965	0.845000	0.48019	3.419000	0.52728	1.497000	0.48584	0.650000	0.86243	CGA		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		35	120	1	0	3.78316e-11	0.086207	4.39752e-11	35	120				
TSNAX	7257	broad.mit.edu	37	1	231672960	231672960	+	Splice_Site	SNP	A	A	G			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr1:231672960A>G	ENST00000366639.4	+	3	281	c.123A>G	c.(121-123)tcA>tcG	p.S41S	TSNAX_ENST00000602825.1_3'UTR|TSNAX-DISC1_ENST00000602962.1_Splice_Site_p.S41S	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	41					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				TGTTTTTAGCATTTCAGCAGG	0.368																																							uc001huw.2		NA																	0					0						c.(121-123)TCA>TCG		translin-associated factor X							102.0	102.0	102.0					1																	231672960		2203	4300	6503	SO:0001630	splice_region_variant	7257				cell differentiation|multicellular organismal development|spermatogenesis	nucleus|perinuclear region of cytoplasm	protein transporter activity|sequence-specific DNA binding	g.chr1:231672960A>G	X95073	CCDS1596.1	1q42.2	2008-02-05			ENSG00000116918	ENSG00000116918			12380	protein-coding gene	gene with protein product		602964				9013868	Standard	NM_005999		Approved	TRAX	uc001huw.3	Q99598	OTTHUMG00000039486	ENST00000366639.4:c.122-1A>G	1.37:g.231672960A>G						TSNAX-DISC1_uc010pwe.1_5'UTR|TSNAX-DISC1_uc010pwf.1_5'UTR|TSNAX-DISC1_uc010pwg.1_5'UTR|TSNAX-DISC1_uc010pwh.1_5'UTR|TSNAX-DISC1_uc010pwi.1_Intron|TSNAX-DISC1_uc010pwj.1_5'UTR|TSNAX-DISC1_uc010pwk.1_5'UTR|TSNAX-DISC1_uc010pwl.1_RNA	p.S41S	NM_005999	NP_005990	Q99598	TSNAX_HUMAN			3	281	+		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)	41					B1APC6	Silent	SNP	ENST00000366639.4	37	c.123A>G	CCDS1596.1																																																																																				0.368	TSNAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095267.2	NM_005999	Silent	47	30	0	0	0	0.048971	0	47	30				
YME1L1	10730	broad.mit.edu	37	10	27436425	27436425	+	Splice_Site	SNP	A	A	G			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr10:27436425A>G	ENST00000326799.3	-	3	488		c.e3+1		YME1L1_ENST00000376016.3_Intron|YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000477432.1_Missense_Mutation_p.V114A	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase						cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						CCCGCAGTGTACAGGGATTGA	0.463																																							uc001iti.2		NA																	0				ovary(1)	1						c.e3+1		YME1-like 1 isoform 1							171.0	142.0	152.0					10																	27436425		2203	4300	6503	SO:0001630	splice_region_variant	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27436425A>G	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.339+1T>C	10.37:g.27436425A>G						YME1L1_uc001itj.2_Intron|YME1L1_uc010qdl.1_Intron|YME1L1_uc009xkv.2_Intron|YME1L1_uc001itk.1_Missense_Mutation_p.V114A	p.P113_splice	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN			3	521	-								B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Splice_Site	SNP	ENST00000326799.3	37	c.339_splice	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	A	4.769	0.143058	0.09083	.	.	ENSG00000136758	ENST00000326799;ENST00000375969	.	.	.	2.12	-0.405	0.12392	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.8257	0.03120	0.5528:0.0:0.1713:0.2759	.	.	.	.	.	-1	.	.	.	-	.	.	YME1L1	27476431	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.027000	0.13621	-0.113000	0.11958	0.383000	0.25322	.		0.463	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312	Intron	5	25	0	0	0	0.038147	0	5	25				
PDCD4	27250	broad.mit.edu	37	10	112655791	112655791	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr10:112655791A>T	ENST00000280154.7	+	11	1569	c.1295A>T	c.(1294-1296)gAa>gTa	p.E432V	PDCD4_ENST00000393104.2_Missense_Mutation_p.E421V|MIR4680_ENST00000580906.1_RNA	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	432	MI 2. {ECO:0000255|PROSITE- ProRule:PRU00698}.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TTTGTAGAAGAATGTTTTCAG	0.353																																					Ovarian(115;1498 1603 9363 40056 40885)	Ovarian(115;1498 1603 9363 40056 40885)	uc001kzh.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(1294-1296)GAA>GTA		programmed cell death 4 isoform 1							89.0	89.0	89.0					10																	112655791		2202	4300	6502	SO:0001583	missense	27250				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding	g.chr10:112655791A>T	U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"""nuclear antigen H731"""	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.1295A>T	10.37:g.112655791A>T	ENSP00000280154:p.Glu432Val					PDCD4_uc001kzg.2_Missense_Mutation_p.E421V|PDCD4_uc010qre.1_Missense_Mutation_p.E418V	p.E432V	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)	11	1538	+		Breast(234;0.0848)|Lung NSC(174;0.238)	432			MI 2.		B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Missense_Mutation	SNP	ENST00000280154.7	37	c.1295A>T	CCDS7567.1	.	.	.	.	.	.	.	.	.	.	A	16.32	3.088856	0.55968	.	.	ENSG00000150593	ENST00000280154;ENST00000393104	T;T	0.31769	1.48;1.48	5.97	5.97	0.96955	Initiation factor eIF-4 gamma, MA3 (3);Armadillo-type fold (1);	0.275955	0.46758	D	0.000269	T	0.24470	0.0593	N	0.20685	0.6	0.47009	D	0.999285	B;B;B	0.12013	0.005;0.005;0.005	B;B;B	0.17098	0.017;0.017;0.017	T	0.02797	-1.1109	10	0.52906	T	0.07	-15.5908	16.4461	0.83932	1.0:0.0:0.0:0.0	.	418;432;421	B4DKX4;Q53EL6;B5ME91	.;PDCD4_HUMAN;.	V	432;421	ENSP00000280154:E432V;ENSP00000376816:E421V	ENSP00000280154:E432V	E	+	2	0	PDCD4	112645781	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.161000	0.77505	2.285000	0.76669	0.528000	0.53228	GAA		0.353	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050361.1	NM_014456		3	39	0	0	0	0.004672	0	3	39				
ZNF143	7702	broad.mit.edu	37	11	9495562	9495562	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr11:9495562C>A	ENST00000396602.2	+	4	399	c.280C>A	c.(280-282)Cct>Act	p.P94T	ZNF143_ENST00000396604.1_Missense_Mutation_p.P94T|ZNF143_ENST00000530463.1_Missense_Mutation_p.P94T|ZNF143_ENST00000396597.3_Missense_Mutation_p.P63T|ZNF143_ENST00000299606.2_Missense_Mutation_p.P94T	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	94					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		TGTACCCATACCTAAAAGTAG	0.378																																							uc001mhr.2		NA																	0					0						c.(280-282)CCT>ACT		zinc finger protein 143							133.0	132.0	133.0					11																	9495562		2201	4294	6495	SO:0001583	missense	7702				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding	g.chr11:9495562C>A	U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"""Zinc fingers, C2H2-type"""	12928	protein-coding gene	gene with protein product		603433	"""zinc finger protein 143 (clone pHZ-1)"""				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.280C>A	11.37:g.9495562C>A	ENSP00000379847:p.Pro94Thr					ZNF143_uc009yfu.2_Missense_Mutation_p.P94T|ZNF143_uc010rby.1_Missense_Mutation_p.P63T	p.P94T	NM_003442	NP_003433	P52747	ZN143_HUMAN		all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)	4	398	+			94					A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Missense_Mutation	SNP	ENST00000396602.2	37	c.280C>A	CCDS7799.2	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717785	0.48622	.	.	ENSG00000166478	ENST00000531943;ENST00000396604;ENST00000396602;ENST00000530463;ENST00000533542;ENST00000532577;ENST00000396597;ENST00000438144;ENST00000526657;ENST00000299606;ENST00000534265;ENST00000412390	T;T;T;T;T;T;T;T;T;T;T;T	0.46063	0.92;2.98;2.95;2.98;0.96;0.96;2.98;0.97;0.88;2.89;0.96;0.92	6.17	6.17	0.99709	.	0.093636	0.47455	D	0.000226	T	0.35856	0.0946	L	0.44542	1.39	0.48762	D	0.9997	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.001	T	0.10222	-1.0639	10	0.16420	T	0.52	.	15.4532	0.75294	0.138:0.862:0.0:0.0	.	63;94;94	P52747-2;E7ER34;P52747	.;.;ZN143_HUMAN	T	94;94;94;94;63;94;63;94;94;94;94;94	ENSP00000434638:P94T;ENSP00000379849:P94T;ENSP00000379847:P94T;ENSP00000432154:P94T;ENSP00000434922:P63T;ENSP00000433221:P94T;ENSP00000379843:P63T;ENSP00000409432:P94T;ENSP00000435881:P94T;ENSP00000299606:P94T;ENSP00000433743:P94T;ENSP00000388628:P94T	ENSP00000299606:P94T	P	+	1	0	ZNF143	9452138	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.545000	0.53648	2.941000	0.99782	0.655000	0.94253	CCT		0.378	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313921.2	NM_003442		44	72	1	0	2.52991e-16	0.048971	3.24592e-16	44	72				
DBX1	120237	broad.mit.edu	37	11	20177910	20177910	+	Silent	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr11:20177910G>A	ENST00000524983.2	-	4	1170	c.882C>T	c.(880-882)tcC>tcT	p.S294S	DBX1_ENST00000227256.3_Silent_p.S333S			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	294					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GGGGGTCGGAGGACGCGTGGT	0.731																																							uc001mpw.1		NA																	0				ovary(1)	1						c.(997-999)TCC>TCT		developing brain homeobox 1							13.0	18.0	16.0					11																	20177910		2182	4266	6448	SO:0001819	synonymous_variant	120237				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:20177910G>A			11p15.1	2011-06-20				ENSG00000109851		"""Homeoboxes / ANTP class : NKL subclass"""	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.882C>T	11.37:g.20177910G>A							p.S333S	NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN			4	999	-			294						Silent	SNP	ENST00000524983.2	37	c.999C>T																																																																																					0.731	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387585.2	NM_001029865		9	15	0	0	0	0.047766	0	9	15				
LUZP2	338645	broad.mit.edu	37	11	25004797	25004797	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr11:25004797G>T	ENST00000336930.6	+	9	789	c.723G>T	c.(721-723)agG>agT	p.R241S	LUZP2_ENST00000533227.1_Missense_Mutation_p.R155S			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	241						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TCCCACCCAGGAATATTGCCT	0.443																																							uc001mqs.2		NA																	0				ovary(1)|skin(1)	2						c.(721-723)AGG>AGT		leucine zipper protein 2 precursor							140.0	122.0	128.0					11																	25004797		2203	4300	6503	SO:0001583	missense	338645					extracellular region		g.chr11:25004797G>T	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.723G>T	11.37:g.25004797G>T	ENSP00000336817:p.Arg241Ser					LUZP2_uc009yif.2_Missense_Mutation_p.R155S|LUZP2_uc009yig.2_Missense_Mutation_p.R199S	p.R241S	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN			9	957	+			241					A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP	ENST00000336930.6	37	c.723G>T	CCDS31446.1	.	.	.	.	.	.	.	.	.	.	G	3.577	-0.086346	0.07097	.	.	ENSG00000187398	ENST00000336930;ENST00000533227	T;T	0.18810	2.19;2.19	5.53	-0.601	0.11638	.	0.718157	0.13743	N	0.365810	T	0.07007	0.0178	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.002	T	0.38478	-0.9659	10	0.08599	T	0.76	-0.4732	3.4441	0.07474	0.3371:0.0:0.3223:0.3407	.	155;241	E9PN53;Q86TE4	.;LUZP2_HUMAN	S	241;155	ENSP00000336817:R241S;ENSP00000432952:R155S	ENSP00000336817:R241S	R	+	3	2	LUZP2	24961373	0.001000	0.12720	0.005000	0.12908	0.252000	0.25951	1.069000	0.30641	0.094000	0.17404	0.650000	0.86243	AGG		0.443	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909		60	94	1	0	6.12789e-21	0.048971	8.17052e-21	60	94				
PATL1	219988	broad.mit.edu	37	11	59417006	59417006	+	Silent	SNP	T	T	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr11:59417006T>C	ENST00000300146.9	-	14	1746	c.1662A>G	c.(1660-1662)ctA>ctG	p.L554L		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	554	Involved in nuclear spleckles localization.|Region C.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TGTCATCCATTAGGGCAGGTC	0.443																																							uc001noe.3		NA																	0				ovary(1)	1						c.(1660-1662)CTA>CTG		protein associated with topoisomerase II homolog							123.0	107.0	112.0					11																	59417006		1944	4136	6080	SO:0001819	synonymous_variant	219988				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding	g.chr11:59417006T>C	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.1662A>G	11.37:g.59417006T>C						PATL1_uc009yms.1_Silent_p.L524L|PATL1_uc010rkw.1_Silent_p.L259L	p.L554L	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN			14	1805	-			554	YERRYLLSLEEERPALMDD->GSGSGSG: In mut3; does not affect neither RNA- binding,interaction with the decapping machinery, nor localization to P-body.		Region C.		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Silent	SNP	ENST00000300146.9	37	c.1662A>G	CCDS44613.1																																																																																				0.443	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716		15	20	0	0	0	0.0333	0	15	20				
FIBP	9158	broad.mit.edu	37	11	65655520	65655520	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr11:65655520T>C	ENST00000338369.2	-	2	281	c.169A>G	c.(169-171)Atg>Gtg	p.M57V	CCDC85B_ENST00000312579.2_5'Flank|FIBP_ENST00000426652.2_5'UTR|FIBP_ENST00000357519.4_Missense_Mutation_p.M57V|FIBP_ENST00000533045.1_Missense_Mutation_p.M54V	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	57					fibroblast growth factor receptor signaling pathway (GO:0008543)|platelet aggregation (GO:0070527)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		TAATGGTCCATGGTGTCGCTC	0.667											OREG0021090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001ogd.2		NA																	0				ovary(1)	1						c.(169-171)ATG>GTG		FGF intracellular binding protein isoform a							36.0	35.0	35.0					11																	65655520		2200	4296	6496	SO:0001583	missense	9158				fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding	g.chr11:65655520T>C	AF010187	CCDS8118.1, CCDS8119.1	11q13.1	2006-06-15			ENSG00000172500	ENSG00000172500			3705	protein-coding gene	gene with protein product		608296				9806903	Standard	NM_004214		Approved	FGFIBP	uc001ogd.3	O43427	OTTHUMG00000166846	ENST00000338369.2:c.169A>G	11.37:g.65655520T>C	ENSP00000344572:p.Met57Val		OREG0021090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1085	FIBP_uc009yqu.2_Missense_Mutation_p.M54V|FIBP_uc001oge.2_Missense_Mutation_p.M57V|FIBP_uc010roq.1_Missense_Mutation_p.M57V|FIBP_uc010ror.1_Missense_Mutation_p.M57V|CCDC85B_uc001ogf.2_5'Flank	p.M57V	NM_198897	NP_942600	O43427	FIBP_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	2	290	-			57					A8K0J7|Q27Q85|Q6IBQ3|Q9HD65	Missense_Mutation	SNP	ENST00000338369.2	37	c.169A>G	CCDS8119.1	.	.	.	.	.	.	.	.	.	.	T	11.84	1.760111	0.31137	.	.	ENSG00000172500	ENST00000338369;ENST00000357519;ENST00000533045	T;T;T	0.21932	1.98;1.98;1.98	4.15	4.15	0.48705	.	0.042539	0.85682	D	0.000000	T	0.32675	0.0837	L	0.34521	1.04	0.58432	D	0.999998	D;D;P;B;B	0.57257	0.979;0.963;0.843;0.013;0.016	D;D;D;B;B	0.74023	0.982;0.966;0.926;0.005;0.009	T	0.05131	-1.0904	10	0.59425	D	0.04	-27.3079	11.4383	0.50081	0.0:0.0:0.0:1.0	.	57;57;54;57;57	B4DF10;B4DR95;E9PSD3;O43427-2;O43427	.;.;.;.;FIBP_HUMAN	V	57;57;54	ENSP00000344572:M57V;ENSP00000350124:M57V;ENSP00000434043:M54V	ENSP00000344572:M57V	M	-	1	0	FIBP	65412096	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.978000	0.63799	1.862000	0.54008	0.459000	0.35465	ATG		0.667	FIBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000391575.2	NM_198897		4	3	0	0	0	0.009096	0	4	3				
TMEM126B	55863	broad.mit.edu	37	11	85345276	85345276	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr11:85345276C>T	ENST00000358867.6	+	3	373	c.350C>T	c.(349-351)tCt>tTt	p.S117F	TMEM126B_ENST00000393375.1_Missense_Mutation_p.S87F|TMEM126B_ENST00000534341.1_Missense_Mutation_p.S117F	NM_018480.4	NP_060950.3	Q8IUX1	T126B_HUMAN	transmembrane protein 126B	117						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				kidney(1)|large_intestine(2)|lung(3)|prostate(1)	7		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CCATTTTTGTCTACTGTTGTT	0.333																																							uc001pao.2		NA																	0					0						c.(259-261)TCT>TTT		transmembrane protein 126B							190.0	153.0	166.0					11																	85345276		2202	4299	6501	SO:0001583	missense	55863					integral to membrane		g.chr11:85345276C>T		CCDS8267.1, CCDS8267.2, CCDS53686.1	11q14.1	2013-05-24				ENSG00000171204		"""Mitochondrial respiratory chain complex assembly factors"""	30883	protein-coding gene	gene with protein product		615533				22982022	Standard	NM_018480		Approved	HT007	uc001pap.4	Q8IUX1		ENST00000358867.6:c.350C>T	11.37:g.85345276C>T	ENSP00000351737:p.Ser117Phe					TMEM126B_uc001pan.1_Missense_Mutation_p.S87F|TMEM126B_uc001pap.2_Missense_Mutation_p.S87F|TMEM126B_uc001paq.1_Missense_Mutation_p.S87F	p.S87F	NM_018480	NP_060950	Q8IUX1	T126B_HUMAN			4	512	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	117			Helical; (Potential).		A8K535|A8MSS0|Q32Q09|Q8WVU3|Q96EP3|Q9NZ29	Missense_Mutation	SNP	ENST00000358867.6	37	c.260C>T	CCDS8267.2	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377141	0.61735	.	.	ENSG00000171204	ENST00000358867;ENST00000534341;ENST00000393375	T;T;T	0.33865	1.39;1.39;1.39	5.2	5.2	0.72013	.	0.162163	0.53938	D	0.000052	T	0.57844	0.2081	M	0.67953	2.075	0.39875	D	0.973553	D;D	0.89917	1.0;0.997	D;D	0.77004	0.989;0.912	T	0.58031	-0.7708	9	.	.	.	.	15.5936	0.76558	0.0:1.0:0.0:0.0	.	117;87	Q8IUX1;Q8IUX1-3	T126B_HUMAN;.	F	117;117;87	ENSP00000351737:S117F;ENSP00000433471:S117F;ENSP00000377039:S87F	.	S	+	2	0	TMEM126B	85022924	1.000000	0.71417	0.997000	0.53966	0.476000	0.33039	3.858000	0.55979	2.693000	0.91896	0.655000	0.94253	TCT		0.333	TMEM126B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392164.1	NM_018480		11	35	0	0	0	0.09319	0	11	35				
TMEM126B	55863	broad.mit.edu	37	11	85345296	85345296	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr11:85345296C>T	ENST00000358867.6	+	3	393	c.370C>T	c.(370-372)Ctt>Ttt	p.L124F	TMEM126B_ENST00000393375.1_Missense_Mutation_p.L94F|TMEM126B_ENST00000534341.1_Missense_Mutation_p.L124F	NM_018480.4	NP_060950.3	Q8IUX1	T126B_HUMAN	transmembrane protein 126B	124						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				kidney(1)|large_intestine(2)|lung(3)|prostate(1)	7		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TACTGACAAGCTTTTTGTAAT	0.328																																							uc001pao.2		NA																	0					0						c.(280-282)CTT>TTT		transmembrane protein 126B							166.0	135.0	145.0					11																	85345296		2202	4299	6501	SO:0001583	missense	55863					integral to membrane		g.chr11:85345296C>T		CCDS8267.1, CCDS8267.2, CCDS53686.1	11q14.1	2013-05-24				ENSG00000171204		"""Mitochondrial respiratory chain complex assembly factors"""	30883	protein-coding gene	gene with protein product		615533				22982022	Standard	NM_018480		Approved	HT007	uc001pap.4	Q8IUX1		ENST00000358867.6:c.370C>T	11.37:g.85345296C>T	ENSP00000351737:p.Leu124Phe					TMEM126B_uc001pan.1_Missense_Mutation_p.L94F|TMEM126B_uc001pap.2_Missense_Mutation_p.L94F|TMEM126B_uc001paq.1_Missense_Mutation_p.L94F	p.L94F	NM_018480	NP_060950	Q8IUX1	T126B_HUMAN			4	532	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	124			Helical; (Potential).		A8K535|A8MSS0|Q32Q09|Q8WVU3|Q96EP3|Q9NZ29	Missense_Mutation	SNP	ENST00000358867.6	37	c.280C>T	CCDS8267.2	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.663981	0.00772	.	.	ENSG00000171204	ENST00000358867;ENST00000534341;ENST00000393375	T;T;T	0.33654	1.4;1.4;1.4	5.2	-2.74	0.05932	.	0.241921	0.39834	N	0.001244	T	0.21307	0.0513	L	0.46157	1.445	0.09310	N	1	B;B	0.22541	0.071;0.008	B;B	0.22152	0.038;0.009	T	0.08932	-1.0698	9	.	.	.	.	2.6615	0.05028	0.1298:0.2357:0.127:0.5075	.	124;94	Q8IUX1;Q8IUX1-3	T126B_HUMAN;.	F	124;124;94	ENSP00000351737:L124F;ENSP00000433471:L124F;ENSP00000377039:L94F	.	L	+	1	0	TMEM126B	85022944	0.263000	0.24083	0.055000	0.19348	0.022000	0.10575	-0.347000	0.07750	-0.146000	0.11274	0.655000	0.94253	CTT		0.328	TMEM126B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392164.1	NM_018480		12	26	0	0	0	0.080935	0	12	26				
YAP1	10413	broad.mit.edu	37	11	102100563	102100563	+	Silent	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr11:102100563G>A	ENST00000282441.5	+	9	1795	c.1407G>A	c.(1405-1407)gaG>gaA	p.E469E	YAP1_ENST00000345877.2_Silent_p.E419E|YAP1_ENST00000528834.1_3'UTR|YAP1_ENST00000531439.1_Silent_p.E453E|RP11-864G5.3_ENST00000526310.1_RNA|YAP1_ENST00000526343.1_Silent_p.E415E|YAP1_ENST00000537274.1_Silent_p.E457E|YAP1_ENST00000524575.1_Silent_p.E291E	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	469	Transactivation domain.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		AAGGAGAGGAGCTGATGCCAA	0.463																																					Colon(50;247 1103 7861 28956)	Colon(50;247 1103 7861 28956)	uc001pgt.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1405-1407)GAG>GAA		Yes-associated protein 1, 65kDa isoform 1							134.0	126.0	129.0					11																	102100563		2203	4299	6502	SO:0001819	synonymous_variant	10413				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr11:102100563G>A		CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"""Yes-associated protein 1, 65kDa"""			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.1407G>A	11.37:g.102100563G>A						YAP1_uc001pgs.2_Silent_p.E419E|YAP1_uc001pgu.2_Silent_p.E453E|YAP1_uc001pgv.2_Silent_p.E415E|YAP1_uc010ruo.1_Silent_p.E291E|YAP1_uc001pgw.2_Silent_p.E293E|YAP1_uc010rup.1_Silent_p.E234E	p.E469E	NM_001130145	NP_001123617	P46937	YAP1_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)	9	1777	+	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	469			Transactivation domain.		B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Silent	SNP	ENST00000282441.5	37	c.1407G>A	CCDS44716.1	.	.	.	.	.	.	.	.	.	.	G	6.578	0.474971	0.12521	.	.	ENSG00000137693	ENST00000529029	.	.	.	6.17	1.82	0.25136	.	.	.	.	.	T	0.54095	0.1837	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44651	-0.9314	4	.	.	.	.	6.5143	0.22239	0.5961:0.0:0.4039:0.0	.	.	.	.	N	223	.	.	S	+	2	0	YAP1	101605773	1.000000	0.71417	0.636000	0.29352	0.937000	0.57800	3.338000	0.52128	0.489000	0.27749	0.655000	0.94253	AGC		0.463	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1	NM_006106		3	41	0	0	0	0.004672	0	3	41				
ANO2	57101	broad.mit.edu	37	12	5841686	5841686	+	Splice_Site	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr12:5841686C>T	ENST00000356134.5	-	16	1619	c.1548G>A	c.(1546-1548)gaG>gaA	p.E516E	ANO2_ENST00000327087.8_Splice_Site_p.E515E|ANO2_ENST00000546188.1_Splice_Site_p.E516E|ANO2_ENST00000538154.1_5'UTR	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	520					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGCTTCATACCTCATCGCCAC	0.478																																							uc001qnm.2		NA																	0				ovary(4)|large_intestine(2)|central_nervous_system(1)	7						c.(1543-1545)GAG>GAA		anoctamin 2							99.0	101.0	100.0					12																	5841686		2092	4219	6311	SO:0001630	splice_region_variant	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5841686C>T	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1548+1G>A	12.37:g.5841686C>T							p.E515E	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			15	1617	-			520			Cytoplasmic (Potential).		C4N787|Q9H847	Silent	SNP	ENST00000356134.5	37	c.1545G>A																																																																																					0.478	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373	Silent	8	27	0	0	0	0.069234	0	8	27				
SLCO1B7	338821	broad.mit.edu	37	12	21201742	21201742	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr12:21201742C>T	ENST00000421593.2	+	8	1091	c.1091C>T	c.(1090-1092)gCa>gTa	p.A364V	SLCO1B7_ENST00000554957.1_Missense_Mutation_p.A411V|LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Missense_Mutation_p.A411V|SLCO1B3_ENST00000553473.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	364						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GCCAAATTGGCATTTTGTTCT	0.393																																							uc010sin.1		NA																	0					0						c.(1090-1092)GCA>GTA		liver-specific organic anion transporter 3TM12							69.0	71.0	71.0					12																	21201742		2094	4242	6336	SO:0001583	missense	338821					membrane	transporter activity	g.chr12:21201742C>T	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1091C>T	12.37:g.21201742C>T	ENSP00000394168:p.Ala364Val					SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Missense_Mutation_p.A411V	p.A364V	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN			8	1091	+			364					Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	c.1091C>T	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	1.477	-0.558204	0.03967	.	.	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	T;T;T	0.80480	1.08;1.08;-1.38	3.45	-2.15	0.07102	.	0.880628	0.09844	N	0.748449	T	0.60586	0.2280	N	0.12920	0.275	0.09310	N	1	B;B	0.20988	0.05;0.05	B;B	0.27262	0.078;0.078	T	0.45948	-0.9226	10	0.14656	T	0.56	.	5.977	0.19385	0.0:0.453:0.2596:0.2874	.	364;411	G3V0H7;F5H094	.;.	V	411;411;364	ENSP00000370952:A411V;ENSP00000452013:A411V;ENSP00000394168:A364V	ENSP00000370952:A411V	A	+	2	0	SLCO1B7;RP11-545J16.1	21093009	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.454000	0.06770	-0.734000	0.04843	-1.772000	0.00662	GCA		0.393	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		8	10	0	0	0	0.038147	0	8	10				
HMGA2	8091	broad.mit.edu	37	12	66232299	66232299	+	Splice_Site	SNP	A	A	G			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr12:66232299A>G	ENST00000403681.2	+	3	1339	c.199A>G	c.(199-201)Aaa>Gaa	p.K67E	HMGA2_ENST00000354636.3_Splice_Site_p.K67E|HMGA2_ENST00000425208.2_Splice_Site_p.K67E|HMGA2_ENST00000393577.3_Splice_Site_p.K67E|HMGA2_ENST00000541363.1_Splice_Site_p.K67E|HMGA2_ENST00000536545.1_Splice_Site_p.K67E|HMGA2_ENST00000393578.3_Splice_Site_p.K67E	NM_003483.4	NP_003474.1	P52926	HMGA2_HUMAN	high mobility group AT-hook 2	67					adrenal gland development (GO:0030325)|base-excision repair (GO:0006284)|cell proliferation in forebrain (GO:0021846)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|chromatin organization (GO:0006325)|chromosome breakage (GO:0031052)|chromosome condensation (GO:0030261)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA damage response, detection of DNA damage (GO:0042769)|endodermal cell differentiation (GO:0035987)|epithelial to mesenchymal transition (GO:0001837)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|heterochromatin assembly (GO:0031507)|histone H2A-S139 phosphorylation (GO:0035978)|male gonad development (GO:0008584)|mesenchymal cell differentiation (GO:0048762)|mesodermal cell differentiation (GO:0048333)|mesodermal-endodermal cell signaling (GO:0003131)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of DNA binding (GO:0043392)|negative regulation of double-strand break repair via nonhomologous end joining (GO:2001033)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|oncogene-induced cell senescence (GO:0090402)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cellular response to X-ray (GO:2000685)|positive regulation of cellular senescence (GO:2000774)|positive regulation of gene expression (GO:0010628)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle process (GO:0010564)|regulation of cellular response to drug (GO:2001038)|regulation of growth hormone secretion (GO:0060123)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|senescence-associated heterochromatin focus assembly (GO:0035986)|signal transduction (GO:0007165)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|senescence-associated heterochromatin focus (GO:0035985)|SMAD protein complex (GO:0071141)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|AT DNA binding (GO:0003680)|C2H2 zinc finger domain binding (GO:0070742)|cAMP response element binding (GO:0035497)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|DNA-dependent protein kinase activity (GO:0004677)|MH1 domain binding (GO:0035501)|MH2 domain binding (GO:0035500)|nucleosomal DNA binding (GO:0031492)|regulatory region DNA binding (GO:0000975)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		TCATTTGCAGAAAGCAGAAGC	0.353			T	""" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"""	"""lipoma, leiomyoma, pleiomorphic salivary gland adenoma"""																																		uc001ssx.2		NA		Dom	yes		12	12q15	8091	T	high mobility group AT-hook 2 (HMGIC)			M	LHFP|RAD51L1|LPP|HEI10|COX6C|CMKOR1|NFIB|ALDH2|CCNB1IP1|EBF1|WIF1|FHIT		lipoma|leiomyoma|pleiomorphic salivary gland adenoma	HMGA2/LPP(161)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/RAD51B(11)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/CCNB1IP1(2)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/COX6C(2)	0				soft_tissue(159)|bone(27)|salivary_gland(22)	208						c.(199-201)AAA>GAA		high mobility group AT-hook 2 isoform a							41.0	47.0	45.0					12																	66232299		2203	4300	6503	SO:0001630	splice_region_variant	8091				cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding	g.chr12:66232299A>G	U28754	CCDS31854.1, CCDS44936.1, CCDS73491.1, CCDS73492.1	12q15	2011-07-01	2002-07-25	2002-07-26	ENSG00000149948	ENSG00000149948		"""High-mobility group / Canonical"""	5009	protein-coding gene	gene with protein product		600698	"""high-mobility group (nonhistone chromosomal) protein isoform I-C"""	HMGIC		8824803, 9003504	Standard	XM_006719620		Approved	BABL, LIPO	uc001ssx.3	P52926	OTTHUMG00000168936	ENST00000403681.2:c.199-1A>G	12.37:g.66232299A>G						HMGA2_uc001ssw.1_Missense_Mutation_p.K67E|HMGA2_uc010ssv.1_RNA|HMGA2_uc001sss.1_RNA|HMGA2_uc001sst.1_Missense_Mutation_p.K67E|HMGA2_uc001ssu.1_Missense_Mutation_p.K67E|HMGA2_uc001ssv.2_Missense_Mutation_p.K67E|HMGA2_uc001ssy.2_RNA	p.K67E	NM_003483	NP_003474	P52926	HMGA2_HUMAN	GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)	3	1010	+	all_cancers(1;5.78e-46)		67					E7EP85|E7EWA2|Q1M182|Q1M185|Q1M186|Q1M187|Q1M188	Missense_Mutation	SNP	ENST00000403681.2	37	c.199A>G	CCDS44936.1	.	.	.	.	.	.	.	.	.	.	A	19.36	3.812943	0.70912	.	.	ENSG00000149948	ENST00000403681;ENST00000354636;ENST00000393578;ENST00000536545;ENST00000425208;ENST00000541363;ENST00000393577	T	0.47528	0.84	5.4	5.4	0.78164	.	0.723735	0.11887	N	0.519997	T	0.62233	0.2411	L	0.46157	1.445	0.39694	D	0.971084	P;D;D;D;D	0.63880	0.956;0.974;0.993;0.99;0.993	P;D;D;D;D	0.72982	0.899;0.969;0.971;0.979;0.971	T	0.56189	-0.8020	9	.	.	.	-9.1031	13.4854	0.61361	1.0:0.0:0.0:0.0	.	67;67;67;67;67	P52926;F5H2U8;Q1M182;F5H6H0;Q1M186	HMGA2_HUMAN;.;.;.;.	E	67	ENSP00000437621:K67E	.	K	+	1	0	HMGA2	64518566	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	6.121000	0.71602	2.174000	0.68829	0.533000	0.62120	AAA		0.353	HMGA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401654.1	NM_003483	Missense_Mutation	6	37	0	0	0	0.02938	0	6	37				
TRPV4	59341	broad.mit.edu	37	12	110236701	110236701	+	Silent	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr12:110236701C>T	ENST00000418703.2	-	5	964	c.870G>A	c.(868-870)tcG>tcA	p.S290S	TRPV4_ENST00000544971.1_Silent_p.S243S|TRPV4_ENST00000536838.1_Silent_p.S256S|TRPV4_ENST00000346520.2_Silent_p.S290S|TRPV4_ENST00000541794.1_Silent_p.S243S|TRPV4_ENST00000392719.2_Silent_p.S243S|TRPV4_ENST00000261740.2_Silent_p.S290S|TRPV4_ENST00000537083.1_Silent_p.S290S	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	290					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AGGCAGCCAGCGACAGGGGCA	0.677																																							uc001tpj.1		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(868-870)TCG>TCA		transient receptor potential cation channel,							43.0	45.0	44.0					12																	110236701		2203	4300	6503	SO:0001819	synonymous_variant	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110236701C>T	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.870G>A	12.37:g.110236701C>T						TRPV4_uc001tpg.1_Silent_p.S256S|TRPV4_uc001tph.1_Silent_p.S243S|TRPV4_uc001tpi.1_Silent_p.S243S|TRPV4_uc001tpk.1_Silent_p.S290S|TRPV4_uc001tpl.1_Silent_p.S290S	p.S290S	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN			5	965	-			290			Cytoplasmic (Potential).|ANK 2.		B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent	SNP	ENST00000418703.2	37	c.870G>A	CCDS9134.1																																																																																				0.677	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		26	45	0	0	0	0.034045	0	26	45				
CLIP1	6249	broad.mit.edu	37	12	122812709	122812709	+	Splice_Site	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr12:122812709C>T	ENST00000540338.1	-	16	3075	c.3034G>A	c.(3034-3036)Gaa>Aaa	p.E1012K	CLIP1_ENST00000361654.4_Splice_Site_p.E890K|CLIP1_ENST00000302528.7_Splice_Site_p.E1001K|CLIP1_ENST00000545889.1_Splice_Site_p.E587K|CLIP1_ENST00000358808.2_Splice_Site_p.E1001K|CLIP1_ENST00000537178.1_Splice_Site_p.E966K			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1012					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.E1001K(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ATTTTCTTTTCCTGCAGAGAC	0.493																																							uc001ucg.1		NA																	1	Substitution - Missense(1)		kidney(1)	ovary(2)|breast(1)	3						c.(3034-3036)GAA>AAA		restin isoform a							158.0	159.0	159.0					12																	122812709		2203	4300	6503	SO:0001630	splice_region_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122812709C>T		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3034-1G>A	12.37:g.122812709C>T						CLIP1_uc001uch.1_Missense_Mutation_p.E1001K|CLIP1_uc001uci.1_Missense_Mutation_p.E966K|CLIP1_uc001ucj.1_Missense_Mutation_p.E587K	p.E1012K	NM_002956	NP_002947	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	16	3140	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1012			Potential.		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.3034G>A	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008438	0.35415	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540338	T;T;T;T;T	0.53640	2.7;0.63;0.63;0.61;0.66	5.35	5.35	0.76521	.	0.167889	0.52532	D	0.000067	T	0.30039	0.0752	N	0.21097	0.63	0.45837	D	0.998705	B;B;B	0.15719	0.014;0.0;0.0	B;B;B	0.19946	0.027;0.004;0.006	T	0.11817	-1.0572	10	0.09843	T	0.71	-11.8769	9.7516	0.40478	0.0:0.8405:0.0:0.1595	.	966;1001;1012	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	K	587;1001;1001;731;43;966;1012	ENSP00000438743:E587K;ENSP00000303585:E1001K;ENSP00000351665:E1001K;ENSP00000445531:E966K;ENSP00000439093:E1012K	ENSP00000303585:E1001K	E	-	1	0	CLIP1	121378662	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.787000	0.47798	2.659000	0.90383	0.655000	0.94253	GAA		0.493	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956	Missense_Mutation	23	146	0	0	0	0.074837	0	23	146				
OR4M1	441670	broad.mit.edu	37	14	20248683	20248683	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr14:20248683C>G	ENST00000315957.4	+	1	283	c.202C>G	c.(202-204)Ctc>Gtc	p.L68V		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAATCTGGCCCTCCTTGATAT	0.423																																							uc010tku.1		NA																	0					0						c.(202-204)CTC>GTC		olfactory receptor, family 4, subfamily M,							302.0	320.0	314.0					14																	20248683		2203	4300	6503	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248683C>G		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.202C>G	14.37:g.20248683C>G	ENSP00000319654:p.Leu68Val						p.L68V	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	202	+	all_cancers(95;0.00108)		68			Helical; Name=2; (Potential).		B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.202C>G	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	6.065	0.380286	0.11466	.	.	ENSG00000176299	ENST00000315957	T	0.00557	6.62	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000147	T	0.00356	0.0011	N	0.12527	0.23	0.19775	N	0.999952	B	0.06786	0.001	B	0.08055	0.003	T	0.47484	-0.9114	10	0.38643	T	0.18	-12.3698	8.1314	0.31029	0.0:0.0987:0.0:0.9013	.	68	Q8NGD0	OR4M1_HUMAN	V	68	ENSP00000319654:L68V	ENSP00000319654:L68V	L	+	1	0	OR4M1	19318523	0.002000	0.14202	1.000000	0.80357	0.862000	0.49288	-0.135000	0.10420	0.767000	0.33267	-0.746000	0.03513	CTC		0.423	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			86	653	0	0	0	0.048971	0	86	653				
OR4K17	390436	broad.mit.edu	37	14	20586392	20586392	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr14:20586392C>A	ENST00000315543.4	+	1	827	c.827C>A	c.(826-828)aCa>aAa	p.T276K		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GCTCACATCACAGTGGTGATT	0.428																																							uc001vwo.1		NA																	0				skin(3)	3						c.(826-828)ACA>AAA		olfactory receptor, family 4, subfamily K,							137.0	125.0	129.0					14																	20586392		2203	4300	6503	SO:0001583	missense	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20586392C>A		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.827C>A	14.37:g.20586392C>A	ENSP00000319197:p.Thr276Lys						p.T276K	NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	827	+	all_cancers(95;0.00108)		248			Helical; Name=6; (Potential).		Q6IF12	Missense_Mutation	SNP	ENST00000315543.4	37	c.827C>A	CCDS32030.1	.	.	.	.	.	.	.	.	.	.	.	14.64	2.597253	0.46318	.	.	ENSG00000176230	ENST00000315543	T	0.39229	1.09	2.86	0.952	0.19584	GPCR, rhodopsin-like superfamily (1);	0.259858	0.19918	U	0.103141	T	0.67392	0.2888	H	0.95712	3.71	0.09310	N	0.999999	D	0.63880	0.993	D	0.69142	0.962	T	0.56823	-0.7915	10	0.87932	D	0	.	6.0768	0.19919	0.0:0.6296:0.0:0.3704	.	248	Q8NGC6	OR4KH_HUMAN	K	276	ENSP00000319197:T276K	ENSP00000319197:T276K	T	+	2	0	OR4K17	19656232	0.000000	0.05858	0.977000	0.42913	0.908000	0.53690	-0.630000	0.05502	0.511000	0.28236	0.404000	0.27445	ACA		0.428	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			16	46	1	0	1.45105e-14	0.038395	1.82725e-14	16	46				
NRL	4901	broad.mit.edu	37	14	24551823	24551823	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr14:24551823G>A	ENST00000561028.1	-	2	554	c.235C>T	c.(235-237)Cag>Tag	p.Q79*	NRL_ENST00000396995.1_5'Flank|NRL_ENST00000397002.2_Nonsense_Mutation_p.Q79*|NRL_ENST00000396997.1_Nonsense_Mutation_p.Q79*|NRL_ENST00000560550.1_5'Flank			P54845	NRL_HUMAN	neural retina leucine zipper	79	Minimal transactivation domain (MTD).				positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of rhodopsin gene expression (GO:0007468)|response to stimulus (GO:0050896)|retinal rod cell development (GO:0046548)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)	2				GBM - Glioblastoma multiforme(265;0.0181)		AGCTGCTGCTGCAGGGTAGCC	0.667																																							uc001wlo.2		NA																	0					0						c.(235-237)CAG>TAG		neural retina leucine zipper							19.0	21.0	20.0					14																	24551823		2203	4295	6498	SO:0001587	stop_gained	4901				response to stimulus|transcription from RNA polymerase II promoter|visual perception	nucleus	leucine zipper domain binding|sequence-specific DNA binding	g.chr14:24551823G>A		CCDS9608.1	14q11.1-q11.2	2013-01-08			ENSG00000129535	ENSG00000129535			8002	protein-coding gene	gene with protein product		162080				1427865, 10192380	Standard	NM_006177		Approved	D14S46E, RP27, NRL-MAF	uc021rrk.1	P54845	OTTHUMG00000028789	ENST00000561028.1:c.235C>T	14.37:g.24551823G>A	ENSP00000454062:p.Gln79*					NRL_uc001wlp.2_Nonsense_Mutation_p.Q79*|NRL_uc001wlq.2_Nonsense_Mutation_p.Q79*	p.Q79*	NM_006177	NP_006168	P54845	NRL_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	2	366	-			79					A8MX14|Q53XD0	Nonsense_Mutation	SNP	ENST00000561028.1	37	c.235C>T	CCDS9608.1	.	.	.	.	.	.	.	.	.	.	G	37	6.630457	0.97718	.	.	ENSG00000129535	ENST00000397002;ENST00000396997	.	.	.	5.19	5.19	0.71726	.	0.080539	0.48286	D	0.000194	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-25.9693	9.6005	0.39601	0.0923:0.0:0.9077:0.0	.	.	.	.	X	79	.	ENSP00000337023:Q79X	Q	-	1	0	NRL	23621663	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.779000	0.47734	2.695000	0.91970	0.655000	0.94253	CAG		0.667	NRL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415595.1			4	21	0	0	0	0.009096	0	4	21				
HEATR5A	25938	broad.mit.edu	37	14	31774300	31774300	+	Silent	SNP	A	A	G			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr14:31774300A>G	ENST00000389961.3	-	31	5031	c.5032T>C	c.(5032-5034)Ttg>Ctg	p.L1678L	HEATR5A_ENST00000439348.1_Silent_p.L1678L|HEATR5A_ENST00000543095.2_Silent_p.L1684L|HEATR5A_ENST00000439727.1_Silent_p.L1391L|RP11-596D21.1_ENST00000551799.1_RNA			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1678										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GCAAAGACCAAAGACTTTCCA	0.443																																							uc001wrf.3		NA																	0				ovary(1)	1						c.(4171-4173)TTG>CTG		HEAT repeat containing 5A							103.0	100.0	101.0					14																	31774300		1889	4137	6026	SO:0001819	synonymous_variant	25938						binding	g.chr14:31774300A>G	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.5032T>C	14.37:g.31774300A>G						HEATR5A_uc010ami.2_Silent_p.L1289L	p.L1391L	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	26	4248	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		1678					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Silent	SNP	ENST00000389961.3	37	c.4171T>C																																																																																					0.443	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		9	82	0	0	0	0.047766	0	9	82				
C14orf37	145407	broad.mit.edu	37	14	58563492	58563492	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr14:58563492G>C	ENST00000267485.7	-	5	2233	c.2039C>G	c.(2038-2040)aCc>aGc	p.T680S		NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	680						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CACCTGGTAGGTAGCTCCCTC	0.527																																							uc001xdc.2		NA																	0					0						c.(2038-2040)ACC>AGC		hypothetical protein LOC145407 precursor							120.0	107.0	112.0					14																	58563492		2203	4300	6503	SO:0001583	missense	145407					integral to membrane	binding	g.chr14:58563492G>C		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.2039C>G	14.37:g.58563492G>C	ENSP00000267485:p.Thr680Ser					C14orf37_uc010tro.1_Missense_Mutation_p.T718S|C14orf37_uc001xdd.2_Missense_Mutation_p.T680S	p.T680S	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN			5	2150	-			680			Extracellular (Potential).		A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	c.2039C>G	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118260	0.37339	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.31247	1.5	4.78	4.78	0.61160	.	0.089456	0.49305	D	0.000154	T	0.27027	0.0662	L	0.39898	1.24	0.30604	N	0.760244	P;P;P	0.41393	0.748;0.748;0.748	B;B;B	0.40101	0.319;0.319;0.319	T	0.11348	-1.0591	10	0.14656	T	0.56	-10.7047	16.761	0.85512	0.0:0.0:1.0:0.0	.	718;680;680	B4DMS4;A8K990;Q86TY3	.;.;CN037_HUMAN	S	680;718	ENSP00000267485:T680S	ENSP00000267485:T680S	T	-	2	0	C14orf37	57633245	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.722000	0.74735	2.349000	0.79799	0.561000	0.74099	ACC		0.527	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		20	30	0	0	0	0.062417	0	20	30				
SPTB	6710	broad.mit.edu	37	14	65234487	65234487	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr14:65234487C>A	ENST00000389721.5	-	29	6145	c.6113G>T	c.(6112-6114)gGa>gTa	p.G2038V	SPTB_ENST00000389720.3_Missense_Mutation_p.G2038V|SPTB_ENST00000389722.3_Missense_Mutation_p.G2038V|SPTB_ENST00000556626.1_Missense_Mutation_p.G2038V|SPTB_ENST00000542895.1_Missense_Mutation_p.G2038V	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	2038					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CACTGTGTGTCCAAAGTCCCC	0.622																																							uc001xht.2		NA																	0				ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(6112-6114)GGA>GTA		spectrin beta isoform b							123.0	98.0	106.0					14																	65234487		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65234487C>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.6113G>T	14.37:g.65234487C>A	ENSP00000374371:p.Gly2038Val					SPTB_uc001xhr.2_Missense_Mutation_p.G2038V|SPTB_uc001xhs.2_Missense_Mutation_p.G2038V|SPTB_uc001xhu.2_Missense_Mutation_p.G2038V|SPTB_uc010aqi.2_Missense_Mutation_p.G699V	p.G2038V	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	29	6167	-		all_lung(585;4.15e-09)	2038			Spectrin 17.		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.6113G>T	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699281	0.88830	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.86847	0.6031	M	0.89030	3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.999	D	0.89293	0.3620	10	0.87932	D	0	.	17.736	0.88392	0.0:1.0:0.0:0.0	.	822;2038;2042	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	V	2042;2038;822;703;2038;2038;2038;2038	ENSP00000374372:G2038V;ENSP00000451324:G703V;ENSP00000451752:G2038V;ENSP00000374371:G2038V;ENSP00000443882:G2038V;ENSP00000374370:G2038V	ENSP00000334218:G822V	G	-	2	0	SPTB	64304240	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.742000	0.85008	2.550000	0.86006	0.462000	0.41574	GGA		0.622	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			28	53	1	0	2.12542e-12	0.030593	2.53558e-12	28	53				
RIN3	79890	broad.mit.edu	37	14	93142836	93142836	+	Silent	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr14:93142836G>A	ENST00000216487.7	+	8	2511	c.2352G>A	c.(2350-2352)gcG>gcA	p.A784A	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	784	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCTATGGGGCGGATGACTTCC	0.582																																							uc001yap.2		NA																	0				lung(2)|ovary(1)	3						c.(2350-2352)GCG>GCA		Ras and Rab interactor 3							87.0	84.0	85.0					14																	93142836		2203	4300	6503	SO:0001819	synonymous_variant	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93142836G>A	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.2352G>A	14.37:g.93142836G>A						RIN3_uc010auk.2_Silent_p.A446A|RIN3_uc001yaq.2_Silent_p.A709A|RIN3_uc001yas.1_Silent_p.A446A	p.A784A	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN			8	2504	+		all_cancers(154;0.0701)	784			VPS9.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Silent	SNP	ENST00000216487.7	37	c.2352G>A	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.279897	0.23392	.	.	ENSG00000100599	ENST00000556418	.	.	.	4.66	-6.23	0.02052	.	.	.	.	.	T	0.38081	0.1027	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43228	-0.9404	4	.	.	.	-14.3076	3.1183	0.06382	0.3654:0.3253:0.2259:0.0834	.	.	.	.	R	301	.	.	G	+	1	0	RIN3	92212589	0.066000	0.20996	0.984000	0.44739	0.986000	0.74619	-0.639000	0.05446	-0.733000	0.04850	0.313000	0.20887	GGA		0.582	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			4	107	0	0	0	0.009096	0	4	107				
GSC	145258	broad.mit.edu	37	14	95234944	95234944	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr14:95234944G>A	ENST00000238558.3	-	3	867	c.658C>T	c.(658-660)Cgg>Tgg	p.R220W		NM_173849.2	NP_776248.1	P56915	GSC_HUMAN	goosecoid homeobox	220					dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|gastrulation (GO:0007369)|middle ear morphogenesis (GO:0042474)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell fate specification (GO:0014036)|signal transduction involved in regulation of gene expression (GO:0023019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)			skin(1)	1		all_cancers(154;0.0896)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)		GATGAGGACCGCTTCTGCCGC	0.572																																					Pancreas(105;2165 2186 4892 18008)	Pancreas(105;2165 2186 4892 18008)	uc001ydu.2		NA																	0					0						c.(658-660)CGG>TGG		goosecoid							101.0	97.0	98.0					14																	95234944		2203	4300	6503	SO:0001583	missense	145258				gastrulation|middle ear morphogenesis		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:95234944G>A		CCDS9930.1	14q32.13	2011-06-20	2007-07-11			ENSG00000133937		"""Homeoboxes / PRD class"""	4612	protein-coding gene	gene with protein product		138890				7916327	Standard	NM_173849		Approved		uc001ydu.3	P56915		ENST00000238558.3:c.658C>T	14.37:g.95234944G>A	ENSP00000238558:p.Arg220Trp						p.R220W	NM_173849	NP_776248	P56915	GSC_HUMAN		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)	3	805	-		all_cancers(154;0.0896)|all_epithelial(191;0.219)	220					Q86YR1	Missense_Mutation	SNP	ENST00000238558.3	37	c.658C>T	CCDS9930.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.823172	0.71143	.	.	ENSG00000133937	ENST00000238558	D	0.95980	-3.87	5.5	2.32	0.28847	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95664	0.8590	L	0.29908	0.895	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	D	0.95631	0.8689	10	0.87932	D	0	-25.1872	15.8491	0.78912	0.0:0.0:0.5194:0.4806	.	220	P56915	GSC_HUMAN	W	220	ENSP00000238558:R220W	ENSP00000238558:R220W	R	-	1	2	GSC	94304697	0.998000	0.40836	1.000000	0.80357	0.905000	0.53344	0.437000	0.21543	0.658000	0.30925	0.462000	0.41574	CGG		0.572	GSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410746.1			3	83	0	0	0	0.004672	0	3	83				
MAP1A	4130	broad.mit.edu	37	15	43819215	43819215	+	Silent	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr15:43819215G>A	ENST00000300231.5	+	4	5994	c.5544G>A	c.(5542-5544)aaG>aaA	p.K1848K	MAP1A_ENST00000399453.1_Silent_p.K1848K|MAP1A_ENST00000382031.1_Silent_p.K2086K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1848					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGGTGCCCAAGGACAGACCCC	0.622																																							uc001zrt.2		NA																	0				ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(5542-5544)AAG>AAA		microtubule-associated protein 1A	Estramustine(DB01196)						37.0	37.0	37.0					15																	43819215		1890	4112	6002	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43819215G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.5544G>A	15.37:g.43819215G>A							p.K1848K	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	6011	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1848					O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.5544G>A	CCDS42031.1																																																																																				0.622	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		3	43	0	0	0	0.004672	0	3	43				
STRC	161497	broad.mit.edu	37	15	43893141	43893141	+	Silent	SNP	C	C	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr15:43893141C>A	ENST00000450892.2	-	25	4850	c.4773G>T	c.(4771-4773)ctG>ctT	p.L1591L	RNU6-554P_ENST00000410466.1_RNA|STRC_ENST00000541030.1_Silent_p.L818L	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1591					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CCAGCGCTGTCAGATGAACGA	0.592																																							uc001zsf.2		NA																	0					0						c.(4771-4773)CTG>CTT		stereocilin precursor							34.0	44.0	41.0					15																	43893141		2198	4287	6485	SO:0001819	synonymous_variant	161497				sensory perception of sound	cell surface		g.chr15:43893141C>A	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.4773G>T	15.37:g.43893141C>A						STRC_uc010bdl.2_Silent_p.L818L|STRC_uc001zse.2_Silent_p.L109L	p.L1591L	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	25	4851	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	1591						Silent	SNP	ENST00000450892.2	37	c.4773G>T	CCDS10098.1																																																																																				0.592	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		14	55	1	0	9.86323e-18	0.0918	1.27752e-17	14	55				
PIF1	80119	broad.mit.edu	37	15	65114717	65114717	+	Silent	SNP	G	G	T	rs371480665		TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr15:65114717G>T	ENST00000268043.4	-	3	745	c.651C>A	c.(649-651)gcC>gcA	p.A217A	PIF1_ENST00000333425.6_Silent_p.A217A|PIF1_ENST00000559239.1_Silent_p.A217A					PIF1 5'-to-3' DNA helicase											kidney(1)|lung(1)	2						CTTTCAGGACGGCCCTCAGCA	0.627																																							uc002ant.2		NA																	0					0						c.(649-651)GCC>GCA		DNA helicase homolog PIF1							64.0	55.0	58.0					15																	65114717		2202	4299	6501	SO:0001819	synonymous_variant	80119				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding	g.chr15:65114717G>T	AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"""chromosome 15 open reading frame 20"", ""PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"""	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.651C>A	15.37:g.65114717G>T						PIF1_uc002anr.2_5'Flank|PIF1_uc002ans.2_5'Flank|PIF1_uc010uiq.1_Silent_p.A217A|PIF1_uc002anu.2_Silent_p.A217A	p.A217A	NM_025049	NP_079325	Q9H611	PIF1_HUMAN			3	717	-			217			Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.			Silent	SNP	ENST00000268043.4	37	c.651C>A	CCDS10195.2																																																																																				0.627	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	NM_025049		13	39	1	0	1.05317e-09	0.020292	1.20362e-09	13	39				
CYP11A1	1583	broad.mit.edu	37	15	74636145	74636145	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr15:74636145C>A	ENST00000268053.6	-	4	968	c.814G>T	c.(814-816)Gtg>Ttg	p.V272L	CYP11A1_ENST00000419019.2_Missense_Mutation_p.V114L|CYP11A1_ENST00000358632.4_Missense_Mutation_p.V114L|CYP11A1_ENST00000541301.1_3'UTR	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	272					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	CTGAAAATCACGTCCCATGCA	0.592																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	Esophageal Squamous(87;818 1337 4093 9268 37314)	uc002axt.2		NA																	0				ovary(2)	2						c.(814-816)GTG>TTG		cytochrome P450, family 11, subfamily A,	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						165.0	160.0	162.0					15																	74636145		2197	4296	6493	SO:0001583	missense	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74636145C>A	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.814G>T	15.37:g.74636145C>A	ENSP00000268053:p.Val272Leu					CYP11A1_uc002axs.2_Missense_Mutation_p.V114L|CYP11A1_uc010bjm.1_Missense_Mutation_p.V114L|CYP11A1_uc010bjn.1_Intron|CYP11A1_uc010bjo.1_Missense_Mutation_p.V272L|CYP11A1_uc010bjp.1_RNA|CYP11A1_uc010ulj.1_Missense_Mutation_p.V52L	p.V272L	NM_000781	NP_000772	P05108	CP11A_HUMAN			4	969	-			272					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	37	c.814G>T	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	C	0.084	-1.179020	0.01633	.	.	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000452422	T;T;T	0.68025	-0.3;-0.3;-0.3	4.33	-2.77	0.05877	.	0.549924	0.19212	N	0.119886	T	0.50905	0.1643	L	0.48642	1.525	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.12156	0.007;0.004	T	0.42464	-0.9450	10	0.11794	T	0.64	-12.3262	11.2289	0.48901	0.0:0.4541:0.0:0.5459	.	242;272	B4DTE5;P05108	.;CP11A_HUMAN	L	272;114;114;37	ENSP00000268053:V272L;ENSP00000351455:V114L;ENSP00000405488:V114L	ENSP00000268053:V272L	V	-	1	0	CYP11A1	72423198	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	-0.040000	0.12104	-0.313000	0.08728	-0.290000	0.09829	GTG		0.592	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			35	137	1	0	8.16277e-20	0.092188	1.06744e-19	35	137				
LINGO1	84894	broad.mit.edu	37	15	77906450	77906450	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr15:77906450C>A	ENST00000355300.6	-	2	1973	c.1799G>T	c.(1798-1800)cGa>cTa	p.R600L	LINGO1_ENST00000561030.1_Missense_Mutation_p.R594L	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	600					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GTCCGACTTTCGGGGCACATA	0.642																																							uc002bct.1		NA																	0				ovary(1)|lung(1)	2						c.(1798-1800)CGA>CTA		leucine-rich repeat neuronal 6A							63.0	66.0	65.0					15																	77906450		2066	4171	6237	SO:0001583	missense	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77906450C>A	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1799G>T	15.37:g.77906450C>A	ENSP00000347451:p.Arg600Leu					LINGO1_uc002bcu.1_Missense_Mutation_p.R594L	p.R600L	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN			2	1851	-			600			Cytoplasmic (Potential).		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	c.1799G>T	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047188	0.75846	.	.	ENSG00000169783	ENST00000355300	T	0.62364	0.03	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.80439	0.4623	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.82776	-0.0290	10	0.87932	D	0	.	19.0895	0.93221	0.0:1.0:0.0:0.0	.	600	Q96FE5	LIGO1_HUMAN	L	600	ENSP00000347451:R600L	ENSP00000347451:R600L	R	-	2	0	LINGO1	75693505	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.818000	0.86416	2.509000	0.84616	0.561000	0.74099	CGA		0.642	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		15	7	1	0	6.31663e-08	0.024245	7.15884e-08	15	7				
ST20	400410	broad.mit.edu	37	15	80191311	80191311	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr15:80191311G>C	ENST00000478497.1	-	3	881	c.202C>G	c.(202-204)Ctt>Gtt	p.L68V	ST20_ENST00000562759.1_Missense_Mutation_p.L68V|ST20-MTHFS_ENST00000494999.1_Intron|MTHFS_ENST00000258874.3_5'Flank|ST20-MTHFS_ENST00000479961.1_Intron|ST20_ENST00000485386.1_Missense_Mutation_p.L68V|MTHFS_ENST00000559722.1_5'Flank	NM_001100879.1	NP_001094349.1	Q9HBF5	ST20_HUMAN	suppressor of tumorigenicity 20	68					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						GTTTTCGTAAGAGTCAGAAAA	0.363																																							uc002bez.3		NA																	0					0						c.(202-204)CTT>GTT		cervical cancer suppressor-1							111.0	111.0	111.0					15																	80191311		2202	4300	6502	SO:0001583	missense	400410							g.chr15:80191311G>C	AF249277	CCDS42067.1	15q25.1	2007-07-16				ENSG00000180953			33520	protein-coding gene	gene with protein product							Standard	NM_001100879		Approved	HCCS-1		Q9HBF5		ENST00000478497.1:c.202C>G	15.37:g.80191311G>C	ENSP00000453502:p.Leu68Val					ST20_uc002bfa.3_Missense_Mutation_p.L68V|MTHFS_uc002bex.3_5'Flank	p.L68V	NM_001100879	NP_001094349	Q9HBF5	ST20_HUMAN			3	882	-			68						Missense_Mutation	SNP	ENST00000478497.1	37	c.202C>G	CCDS42067.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.328976	0.41197	.	.	ENSG00000180953	ENST00000322484;ENST00000417278	.	.	.	2.73	0.643	0.17770	.	.	.	.	.	T	0.32763	0.0840	.	.	.	0.09310	N	1	B	0.27625	0.183	B	0.33960	0.173	T	0.39292	-0.9621	7	0.87932	D	0	.	3.8344	0.08888	0.1547:0.2536:0.5917:0.0	.	68	Q9HBF5	ST20_HUMAN	V	68	.	ENSP00000319125:L68V	L	-	1	0	ST20	77978366	0.000000	0.05858	0.001000	0.08648	0.346000	0.29079	-0.264000	0.08658	0.032000	0.15435	0.195000	0.17529	CTT		0.363	ST20-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416728.2			51	49	0	0	0	0.048971	0	51	49				
BNC1	646	broad.mit.edu	37	15	83932044	83932044	+	Silent	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr15:83932044G>A	ENST00000345382.2	-	4	2044	c.1959C>T	c.(1957-1959)ggC>ggT	p.G653G	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.G646G	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	653					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AGTGTTCATGGCCACCATCCT	0.552																																							uc002bjt.1		NA																	0				ovary(3)	3						c.(1957-1959)GGC>GGT		basonuclin 1							113.0	113.0	113.0					15																	83932044		2203	4300	6503	SO:0001819	synonymous_variant	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83932044G>A	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.1959C>T	15.37:g.83932044G>A						BNC1_uc010uos.1_Silent_p.G641G	p.G653G	NM_001717	NP_001708	Q01954	BNC1_HUMAN			4	2047	-			653					Q15840	Silent	SNP	ENST00000345382.2	37	c.1959C>T	CCDS10324.1																																																																																				0.552	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		6	49	0	0	0	0.02938	0	6	49				
TMEM8A	58986	broad.mit.edu	37	16	424296	424296	+	Silent	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr16:424296G>A	ENST00000431232.2	-	10	1840	c.1680C>T	c.(1678-1680)gcC>gcT	p.A560A	TMEM8A_ENST00000476735.1_5'Flank|TMEM8A_ENST00000250930.3_Silent_p.A367A	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	560					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CGGCGATGGGGGCCAGGAACA	0.652											OREG0003702	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											uc002cgu.3		NA																	0				central_nervous_system(2)|pancreas(1)	3						c.(1678-1680)GCC>GCT		transmembrane protein 8 (five membrane-spanning							79.0	80.0	80.0					16																	424296		2200	4299	6499	SO:0001819	synonymous_variant	58986				cell adhesion	integral to plasma membrane		g.chr16:424296G>A	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.1680C>T	16.37:g.424296G>A			OREG0003702	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	588	TMEM8A_uc002cgv.3_Silent_p.A367A	p.A560A	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN			10	1809	-			560			Helical; (Potential).		D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Silent	SNP	ENST00000431232.2	37	c.1680C>T	CCDS10407.1	.	.	.	.	.	.	.	.	.	.	G	5.060	0.196714	0.09599	.	.	ENSG00000129925	ENST00000424078	.	.	.	3.6	-7.19	0.01500	.	.	.	.	.	T	0.37517	0.1006	.	.	.	0.51767	D	0.999939	.	.	.	.	.	.	T	0.39187	-0.9626	4	.	.	.	-7.8279	3.4498	0.07494	0.2266:0.3972:0.2759:0.1003	.	.	.	.	L	67	.	.	P	-	2	0	TMEM8A	364297	0.000000	0.05858	0.894000	0.35097	0.468000	0.32798	-2.280000	0.01158	-1.665000	0.01477	-1.087000	0.02190	CCC		0.652	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259		3	47	0	0	0	0.014758	0	3	47				
MYH11	4629	broad.mit.edu	37	16	15820850	15820850	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr16:15820850C>A	ENST00000300036.5	-	28	3822	c.3713G>T	c.(3712-3714)gGg>gTg	p.G1238V	AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000396324.3_Missense_Mutation_p.G1245V|MYH11_ENST00000576790.2_Missense_Mutation_p.G1238V|MYH11_ENST00000452625.2_Missense_Mutation_p.G1245V	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1238					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCGCAGCTCCCCGGCCAGGTC	0.607			T	CBFB	AML																																		uc002ddy.2		NA		Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(3712-3714)GGG>GTG		smooth muscle myosin heavy chain 11 isoform							149.0	164.0	159.0					16																	15820850		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15820850C>A	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.3713G>T	16.37:g.15820850C>A	ENSP00000300036:p.Gly1238Val					MYH11_uc002ddv.2_Missense_Mutation_p.G1245V|MYH11_uc002ddw.2_Missense_Mutation_p.G1238V|MYH11_uc002ddx.2_Missense_Mutation_p.G1245V|MYH11_uc010bvg.2_Missense_Mutation_p.G1070V|MYH11_uc010bvh.2_5'Flank	p.G1238V	NM_002474	NP_002465	P35749	MYH11_HUMAN			28	3820	-			1238			Potential.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.3713G>T	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	7.130	0.579688	0.13686	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	4.68	3.46	0.39613	Myosin tail (1);	0.712591	0.13567	N	0.378368	T	0.59729	0.2215	N	0.19112	0.55	0.09310	N	0.999999	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.17722	0.005;0.002;0.002;0.005;0.019	T	0.47837	-0.9086	10	0.62326	D	0.03	.	2.5431	0.04730	0.2905:0.5193:0.0:0.1901	.	1245;1238;1245;1238;1245	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	V	1238;1238;1245;1245;1245	ENSP00000300036:G1238V;ENSP00000345136:G1238V;ENSP00000379616:G1245V;ENSP00000407821:G1245V	ENSP00000300036:G1238V	G	-	2	0	MYH11	15728351	0.000000	0.05858	0.014000	0.15608	0.369000	0.29798	0.870000	0.28010	2.311000	0.77944	0.655000	0.94253	GGG		0.607	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		102	234	1	0	6.00419e-47	0.048971	8.33235e-47	102	234				
DNAH3	55567	broad.mit.edu	37	16	21098273	21098273	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr16:21098273C>T	ENST00000261383.3	-	19	2773	c.2774G>A	c.(2773-2775)cGc>cAc	p.R925H	DNAH3_ENST00000415178.1_Missense_Mutation_p.R925H	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	925	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTCTGCTAAGCGCCTGGGTGC	0.463																																							uc010vbe.1		NA																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(2773-2775)CGC>CAC		dynein, axonemal, heavy chain 3							255.0	230.0	239.0					16																	21098273		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21098273C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.2774G>A	16.37:g.21098273C>T	ENSP00000261383:p.Arg925His						p.R925H	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	19	2774	-			925			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.2774G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647817	0.87958	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.61627	0.09;0.09	5.58	5.58	0.84498	Dynein heavy chain, domain-2 (1);	0.178143	0.38605	N	0.001635	T	0.76219	0.3957	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.76361	-0.2987	10	0.52906	T	0.07	.	19.5697	0.95407	0.0:1.0:0.0:0.0	.	925	Q8TD57	DYH3_HUMAN	H	925	ENSP00000261383:R925H;ENSP00000394245:R925H	ENSP00000261383:R925H	R	-	2	0	DNAH3	21005774	1.000000	0.71417	0.954000	0.39281	0.943000	0.58893	4.504000	0.60414	2.631000	0.89168	0.655000	0.94253	CGC		0.463	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		13	194	0	0	0	0.09319	0	13	194				
UQCRC2	7385	broad.mit.edu	37	16	21969921	21969921	+	Splice_Site	SNP	G	G	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr16:21969921G>C	ENST00000268379.4	+	4	1096		c.e4+1		UQCRC2_ENST00000561553.1_Splice_Site	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		GCAAATTAAGGTTTGTTAAAT	0.323																																					Colon(123;450 1645 12841 25393 45623)	Colon(123;450 1645 12841 25393 45623)	uc002djx.2		NA																	0				large_intestine(2)	2						c.e4+1		ubiquinol-cytochrome c reductase core protein II							64.0	67.0	66.0					16																	21969921		2198	4299	6497	SO:0001630	splice_region_variant	7385				aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding	g.chr16:21969921G>C	J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.332+1G>C	16.37:g.21969921G>C						UQCRC2_uc002djy.2_Splice_Site_p.S111_splice|UQCRC2_uc010bxa.2_Splice_Site	p.S111_splice	NM_003366	NP_003357	P22695	QCR2_HUMAN		GBM - Glioblastoma multiforme(48;0.0264)	4	468	+								B3KSN4|Q9BQ05	Splice_Site	SNP	ENST00000268379.4	37	c.332_splice	CCDS10601.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452055	0.84209	.	.	ENSG00000140740	ENST00000268379	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0588	0.89371	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UQCRC2	21877422	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.907000	0.92634	2.667000	0.90743	0.561000	0.74099	.		0.323	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254466.1	NM_003366	Intron	6	47	0	0	0	0.047766	0	6	47				
NF1	4763	broad.mit.edu	37	17	29667604	29667604	+	Missense_Mutation	SNP	A	A	C	rs370209920		TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr17:29667604A>C	ENST00000358273.4	+	47	7386	c.7003A>C	c.(7003-7005)Acc>Ccc	p.T2335P	NF1_ENST00000444181.2_Missense_Mutation_p.T128P|NF1_ENST00000417592.2_Missense_Mutation_p.T48P|NF1_ENST00000356175.3_Missense_Mutation_p.T2314P	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2335					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTCAGCAGGTACCGCACTTCT	0.438			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													uc002hgg.2		NA	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		11	Whole gene deletion(8)|Unknown(3)		soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(7003-7005)ACC>CCC		neurofibromin isoform 1							121.0	107.0	112.0					17																	29667604		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29667604A>C		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7003A>C	17.37:g.29667604A>C	ENSP00000351015:p.Thr2335Pro	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Missense_Mutation_p.T2314P|NF1_uc010cso.2_Missense_Mutation_p.T523P|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_RNA	p.T2335P	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	47	7336	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2335					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.7003A>C	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.668326	0.88348	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181;ENST00000417592	T;T;T;T	0.65732	1.42;1.42;1.42;-0.17	6.04	6.04	0.98038	Armadillo-type fold (2);	0.141120	0.64402	D	0.000005	T	0.64046	0.2563	N	0.08118	0	0.58432	D	0.999999	D;P	0.69078	0.997;0.937	D;P	0.78314	0.991;0.579	T	0.72659	-0.4226	10	0.72032	D	0.01	.	16.6349	0.85050	1.0:0.0:0.0:0.0	.	2314;2335	P21359-2;P21359	.;NF1_HUMAN	P	2335;2314;1980;128;48	ENSP00000351015:T2335P;ENSP00000348498:T2314P;ENSP00000389907:T1980P;ENSP00000396481:T128P	ENSP00000348498:T2314P	T	+	1	0	NF1	26691730	1.000000	0.71417	0.990000	0.47175	0.811000	0.45836	8.665000	0.91144	2.330000	0.79161	0.477000	0.44152	ACC		0.438	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		19	8	0	0	0	0.038395	0	19	8				
KRTAP4-8	728224	broad.mit.edu	37	17	39254136	39254137	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr17:39254136_39254137GG>TT	ENST00000333822.4	-	1	256_257	c.200_201CC>AA	c.(199-201)cCC>cAA	p.P67Q		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	67	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						CACAGCAGCTGGGGCGACAGCA	0.658																																							uc010wfo.1		NA																	0					0						c.(199-201)CCC>CAA		keratin associated protein 4.8																																				SO:0001583	missense	728224					keratin filament		g.chr17:39254136_39254137GG>TT	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.200_201delinsTT	17.37:g.39254136_39254137delinsTT	ENSP00000328444:p.Pro67Gln						p.P67Q	NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN			1	239_240	-			67			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].|9.		A8MSH3	Missense_Mutation	DNP	ENST00000333822.4	37	c.200_201CC>AA	CCDS45674.1																																																																																				0.658	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		34	20	0	0	0	0.004672	0	34	20				
SALL3	27164	broad.mit.edu	37	18	76754643	76754643	+	Silent	SNP	C	C	T	rs187638087		TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr18:76754643C>T	ENST00000537592.2	+	2	2652	c.2652C>T	c.(2650-2652)ggC>ggT	p.G884G	SALL3_ENST00000536229.3_Silent_p.G751G|SALL3_ENST00000575389.2_Silent_p.G884G	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	884					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGGCCGTGGGCGACCTGGAGA	0.701													C|||	1	0.000199681	0.0008	0.0	5008	,	,		11450	0.0		0.0	False		,,,				2504	0.0						uc002lmt.2		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(2650-2652)GGC>GGT		sal-like 3							18.0	21.0	20.0					18																	76754643		2163	4236	6399	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754643C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2652C>T	18.37:g.76754643C>T						SALL3_uc010dra.2_Silent_p.G491G	p.G884G	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	2652	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	884					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.2652C>T	CCDS12013.1																																																																																				0.701	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		28	32	0	0	0	0.034045	0	28	32				
CACNA1A	773	broad.mit.edu	37	19	13368360	13368360	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr19:13368360A>G	ENST00000360228.5	-	28	4393	c.4394T>C	c.(4393-4395)cTc>cCc	p.L1465P	CACNA1A_ENST00000573710.2_Missense_Mutation_p.L1466P	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1466					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CGAATGCTTGAGGACCCTGCa	0.597																																							uc010dze.2		NA																	0				large_intestine(2)	2						c.(4396-4398)CTC>CCC		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						34.0	32.0	33.0					19																	13368360		1931	4128	6059	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13368360A>G	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4394T>C	19.37:g.13368360A>G	ENSP00000353362:p.Leu1465Pro					CACNA1A_uc010xnd.1_Missense_Mutation_p.L171P|CACNA1A_uc002mwx.3_Missense_Mutation_p.L171P|CACNA1A_uc010dzc.2_Missense_Mutation_p.L991P|CACNA1A_uc002mwy.3_Missense_Mutation_p.L1465P|CACNA1A_uc010xne.1_Missense_Mutation_p.L994P|CACNA1A_uc002mwv.3_5'UTR	p.L1466P	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		28	4633	-			1466			III.|Extracellular (Potential).		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.4397T>C	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	A	11.51	1.661347	0.29515	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084;ENST00000445042	D	0.98732	-5.1	5.13	5.13	0.70059	Ion transport (1);	0.000000	0.64402	D	0.000007	D	0.99278	0.9748	M	0.92169	3.28	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	0.99023	1.0818	10	0.87932	D	0	.	13.9203	0.63928	1.0:0.0:0.0:0.0	.	1466;1469;1465	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	P	1465;1469;1466;1466;82	ENSP00000353362:L1465P	ENSP00000317661:L1466P	L	-	2	0	CACNA1A	13229360	1.000000	0.71417	1.000000	0.80357	0.049000	0.14656	9.265000	0.95647	1.933000	0.56026	0.460000	0.39030	CTC		0.597	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		4	1	0	0	0	0.009096	0	4	1				
ZNF333	84449	broad.mit.edu	37	19	14810083	14810083	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr19:14810083A>G	ENST00000292530.6	+	5	387	c.296A>G	c.(295-297)gAc>gGc	p.D99G	ZNF333_ENST00000540689.2_Missense_Mutation_p.D99G|ZNF333_ENST00000601629.1_3'UTR|ZNF333_ENST00000601134.1_Intron|ZNF333_ENST00000536363.1_5'UTR	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	99					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						TCCTCCAGGGACATGCAAATG	0.493																																					NSCLC(60;75 1281 16985 25154 29885)	NSCLC(60;75 1281 16985 25154 29885)	uc002mzn.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(295-297)GAC>GGC		zinc finger protein 333							103.0	102.0	102.0					19																	14810083		2203	4300	6503	SO:0001583	missense	84449				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:14810083A>G		CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.296A>G	19.37:g.14810083A>G	ENSP00000292530:p.Asp99Gly					ZNF333_uc010dzq.2_Missense_Mutation_p.D99G|ZNF333_uc002mzk.3_5'UTR|ZNF333_uc002mzl.3_Missense_Mutation_p.D99G|ZNF333_uc002mzm.2_Intron|ZNF333_uc010dzr.1_RNA	p.D99G	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN			5	430	+			99					Q6P2E6|Q86WS6|Q8TDL0	Missense_Mutation	SNP	ENST00000292530.6	37	c.296A>G	CCDS12316.1	.	.	.	.	.	.	.	.	.	.	A	7.996	0.754350	0.15778	.	.	ENSG00000160961	ENST00000392987;ENST00000540689;ENST00000292530	T;T	0.13420	5.28;2.59	2.56	0.334	0.15948	.	.	.	.	.	T	0.05456	0.0144	N	0.08118	0	0.09310	N	0.999998	B;B	0.20780	0.005;0.048	B;B	0.19666	0.003;0.026	T	0.42666	-0.9438	9	0.22706	T	0.39	.	2.9144	0.05748	0.5872:0.2622:0.1506:0.0	.	99;99	Q96JL9;Q6P2E6	ZN333_HUMAN;.	G	99	ENSP00000438130:D99G;ENSP00000292530:D99G	ENSP00000292530:D99G	D	+	2	0	ZNF333	14671083	0.002000	0.14202	0.001000	0.08648	0.275000	0.26752	0.757000	0.26433	-0.000000	0.14550	0.528000	0.53228	GAC		0.493	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433		6	51	0	0	0	0.021553	0	6	51				
TM6SF2	53345	broad.mit.edu	37	19	19377366	19377366	+	Missense_Mutation	SNP	G	G	A	rs374302893		TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr19:19377366G>A	ENST00000389363.4	-	9	929	c.857C>T	c.(856-858)gCt>gTt	p.A286V	TM6SF2_ENST00000586107.1_5'Flank|AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	286						integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			GAAGGTGAGAGCATAGGCAGC	0.607																																							uc002nmd.1		NA																	0					0						c.(856-858)GCT>GTT		transmembrane 6 superfamily member 2		G	VAL/ALA	0,4276		0,0,2138	62.0	75.0	71.0		857	4.1	0.8	19		71	1,8517		0,1,4258	no	missense	TM6SF2	NM_001001524.2	64	0,1,6396	AA,AG,GG		0.0117,0.0,0.0078	possibly-damaging	286/378	19377366	1,12793	2138	4259	6397	SO:0001583	missense	53345					integral to membrane		g.chr19:19377366G>A	AF255923	CCDS42528.1	19p13.3-p12	2008-02-05							11861	protein-coding gene	gene with protein product		606563				11124529	Standard	NM_001001524		Approved	Lpr4	uc002nmd.1	Q9BZW4		ENST00000389363.4:c.857C>T	19.37:g.19377366G>A	ENSP00000374014:p.Ala286Val					HAPLN4_uc002nmc.2_5'UTR	p.A286V	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	Epithelial(12;0.0151)		9	907	-			286			Helical; (Potential).		Q0IJ64	Missense_Mutation	SNP	ENST00000389363.4	37	c.857C>T	CCDS42528.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852905	0.71719	0.0	1.17E-4	ENSG00000213996	ENST00000389363;ENST00000269990	T	0.25749	1.78	5.19	4.12	0.48240	.	0.318910	0.20851	U	0.084528	T	0.35278	0.0926	L	0.56769	1.78	0.37975	D	0.933412	P	0.47484	0.896	P	0.48270	0.572	T	0.44190	-0.9344	10	0.72032	D	0.01	-15.4953	15.3223	0.74132	0.0:0.1769:0.8231:0.0	.	286	Q9BZW4	TM6S2_HUMAN	V	286	ENSP00000374014:A286V	ENSP00000269990:A286V	A	-	2	0	TM6SF2	19238366	0.894000	0.30519	0.798000	0.32154	0.611000	0.37282	1.887000	0.39698	2.424000	0.82194	0.561000	0.74099	GCT		0.607	TM6SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460122.2	NM_203510		6	104	0	0	0	0.021553	0	6	104				
DPY19L3	147991	broad.mit.edu	37	19	32954830	32954830	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr19:32954830A>G	ENST00000342179.5	+	14	1716	c.1501A>G	c.(1501-1503)Agc>Ggc	p.S501G	DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000586987.1_Missense_Mutation_p.S501G|DPY19L3_ENST00000392250.2_Missense_Mutation_p.S501G	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	501						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					CGGCCTATGTAGCCCTGAAAT	0.438																																							uc002ntg.2		NA																	0				ovary(4)	4						c.(1501-1503)AGC>GGC		dpy-19-like 3							250.0	223.0	232.0					19																	32954830		2203	4300	6503	SO:0001583	missense	147991					integral to membrane		g.chr19:32954830A>G		CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.1501A>G	19.37:g.32954830A>G	ENSP00000344937:p.Ser501Gly					DPY19L3_uc002nth.1_Missense_Mutation_p.S501G|DPY19L3_uc002nti.1_RNA	p.S501G	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN			14	1677	+	Esophageal squamous(110;0.162)		501			Helical; (Potential).		Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	ENST00000342179.5	37	c.1501A>G	CCDS12422.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.508325	0.44660	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	T;T	0.62639	0.01;0.01	4.93	4.93	0.64822	.	0.101993	0.64402	D	0.000001	T	0.59851	0.2224	L	0.59967	1.855	0.38868	D	0.956632	B	0.16802	0.019	B	0.17098	0.017	T	0.61618	-0.7026	10	0.52906	T	0.07	-17.6341	14.6073	0.68489	1.0:0.0:0.0:0.0	.	501	Q6ZPD9	D19L3_HUMAN	G	501	ENSP00000376081:S501G;ENSP00000344937:S501G	ENSP00000315672:S501G	S	+	1	0	DPY19L3	37646670	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	5.971000	0.70440	1.854000	0.53819	0.455000	0.32223	AGC		0.438	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		66	247	0	0	0	0.048971	0	66	247				
ANKRD27	84079	broad.mit.edu	37	19	33135266	33135266	+	Nonsense_Mutation	SNP	G	G	A	rs182850937		TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr19:33135266G>A	ENST00000306065.4	-	5	648	c.490C>T	c.(490-492)Cga>Tga	p.R164*	ANKRD27_ENST00000587352.1_Nonsense_Mutation_p.R164*	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	164				HRTFRECERKSLRHHI -> LIEHSENARERASVTT (in Ref. 4; AAQ04657). {ECO:0000305}.	early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TCGCATTCTCGGAATGTTCGA	0.537													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19000	0.0		0.0	False		,,,				2504	0.0						uc002ntn.1		NA																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(490-492)CGA>TGA		ankyrin repeat domain 27 (VPS9 domain)							258.0	249.0	252.0					19																	33135266		2203	4300	6503	SO:0001587	stop_gained	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33135266G>A	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.490C>T	19.37:g.33135266G>A	ENSP00000304292:p.Arg164*					ANKRD27_uc002nto.1_Nonsense_Mutation_p.R164*	p.R164*	NM_032139	NP_115515	Q96NW4	ANR27_HUMAN			5	646	-	Esophageal squamous(110;0.137)		164	HRTFRECERKSLRHHI -> LIEHSENARERASVTT (in Ref. 4; AAQ04657).				Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Nonsense_Mutation	SNP	ENST00000306065.4	37	c.490C>T	CCDS32986.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	22.7	4.324805	0.81580	.	.	ENSG00000105186	ENST00000306065	.	.	.	5.61	-0.597	0.11653	.	0.104763	0.41097	D	0.000946	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-9.0109	11.3869	0.49791	0.0:0.0707:0.5874:0.3419	.	.	.	.	X	164	.	ENSP00000304292:R164X	R	-	1	2	ANKRD27	37827106	1.000000	0.71417	0.155000	0.22561	0.149000	0.21700	2.203000	0.42752	-0.320000	0.08640	0.456000	0.33151	CGA		0.537	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		21	412	0	0	0	0.055883	0	21	412				
CD22	933	broad.mit.edu	37	19	35823644	35823644	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr19:35823644T>C	ENST00000085219.5	+	3	295	c.229T>C	c.(229-231)Tat>Cat	p.Y77H	U62631.5_ENST00000597110.1_RNA|CD22_ENST00000595419.1_3'UTR|CD22_ENST00000341773.6_Missense_Mutation_p.Y77H|CD22_ENST00000544992.2_Missense_Mutation_p.Y77H|CD22_ENST00000270311.6_5'UTR|CD22_ENST00000594250.1_Missense_Mutation_p.Y77H|CD22_ENST00000536635.2_Missense_Mutation_p.Y77H|CD22_ENST00000419549.2_5'UTR	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	77	Ig-like V-type.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GACAAGACTCTATGAAAGCAC	0.478																																					Ovarian(42;1009 1133 23674 26041)	Ovarian(42;1009 1133 23674 26041)	uc010edt.2		NA																	0				ovary(5)|lung(3)|breast(1)	9						c.(229-231)TAT>CAT		CD22 molecule precursor	OspA lipoprotein(DB00045)						100.0	95.0	97.0					19																	35823644		2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35823644T>C	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.229T>C	19.37:g.35823644T>C	ENSP00000085219:p.Tyr77His					CD22_uc010xst.1_5'UTR|CD22_uc010edu.2_Missense_Mutation_p.Y77H|CD22_uc010edv.2_Missense_Mutation_p.Y77H|CD22_uc002nzb.3_Missense_Mutation_p.Y77H	p.Y77H	NM_001771	NP_001762	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		3	306	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		77			Extracellular (Potential).|Ig-like V-type.		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.229T>C	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.891881	0.52014	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.52	4.5	0.54988	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.477280	0.17889	N	0.158582	T	0.64702	0.2622	M	0.78916	2.43	0.28566	N	0.910896	D;D;D;D	0.89917	1.0;1.0;0.979;0.998	D;D;P;D	0.91635	0.999;0.996;0.639;0.971	T	0.58047	-0.7705	10	0.23891	T	0.37	.	8.7522	0.34622	0.1685:0.0:0.0:0.8315	.	77;77;77;77	F5GYU4;F5H7U3;P20273;P20273-2	.;.;CD22_HUMAN;.	H	77	ENSP00000085219:Y77H;ENSP00000442279:Y77H;ENSP00000339349:Y77H;ENSP00000441237:Y77H	ENSP00000085219:Y77H	Y	+	1	0	CD22	40515484	0.035000	0.19736	0.072000	0.20136	0.005000	0.04900	2.248000	0.43160	0.915000	0.36847	-0.490000	0.04691	TAT		0.478	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		70	43	0	0	0	0.048971	0	70	43				
TTC9B	148014	broad.mit.edu	37	19	40722103	40722103	+	Silent	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr19:40722103C>T	ENST00000311308.6	-	3	704	c.687G>A	c.(685-687)ggG>ggA	p.G229G		NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	229					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						GGGACCCAGCCCCACTGTCTT	0.597																																							uc002onc.2		NA																	0					0						c.(685-687)GGG>GGA		tetratricopeptide repeat domain 9B							124.0	98.0	107.0					19																	40722103		2203	4300	6503	SO:0001819	synonymous_variant	148014						binding	g.chr19:40722103C>T	BC029539	CCDS12550.1	19q13.2	2013-01-11				ENSG00000174521		"""Tetratricopeptide (TTC) repeat domain containing"""	26395	protein-coding gene	gene with protein product							Standard	NM_152479		Approved	FLJ30373	uc002onc.3	Q8N6N2		ENST00000311308.6:c.687G>A	19.37:g.40722103C>T							p.G229G	NM_152479	NP_689692	Q8N6N2	TTC9B_HUMAN			3	705	-			229					A8K0I5|Q96NP9	Silent	SNP	ENST00000311308.6	37	c.687G>A	CCDS12550.1																																																																																				0.597	TTC9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462604.1	NM_152479		59	96	0	0	0	0.048971	0	59	96				
ZNF582	147948	broad.mit.edu	37	19	56896146	56896146	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr19:56896146G>T	ENST00000301310.4	-	5	798	c.640C>A	c.(640-642)Cta>Ata	p.L214I	ZNF582_ENST00000586929.1_Missense_Mutation_p.L214I|AC006116.12_ENST00000589671.1_RNA	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	214					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TGTTGAATTAGTCGTGAGCCA	0.343																																					Ovarian(183;1887 2032 4349 30507 51343)	Ovarian(183;1887 2032 4349 30507 51343)	uc002qmz.1		NA																	0				ovary(3)|large_intestine(1)	4						c.(640-642)CTA>ATA		zinc finger protein 582							67.0	69.0	69.0					19																	56896146		2203	4300	6503	SO:0001583	missense	147948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56896146G>T	AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.640C>A	19.37:g.56896146G>T	ENSP00000301310:p.Leu214Ile					ZNF582_uc002qmy.2_Missense_Mutation_p.L245I	p.L214I	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN		GBM - Glioblastoma multiforme(193;0.0547)	5	799	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	214			C2H2-type 2.		B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	ENST00000301310.4	37	c.640C>A	CCDS33121.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463055	0.43736	.	.	ENSG00000018869	ENST00000301310	T	0.14640	2.49	4.78	1.51	0.23008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.28895	N	0.013791	T	0.22205	0.0535	M	0.83692	2.655	0.09310	N	1	P;P	0.39520	0.676;0.63	B;B	0.43251	0.34;0.413	T	0.09207	-1.0685	10	0.87932	D	0	.	9.1667	0.37056	0.2443:0.0:0.7557:0.0	.	214;245	Q96NG8;B4DQZ9	ZN582_HUMAN;.	I	214	ENSP00000301310:L214I	ENSP00000301310:L214I	L	-	1	2	ZNF582	61587958	0.864000	0.29904	0.002000	0.10522	0.002000	0.02628	1.180000	0.32005	0.328000	0.23435	-0.218000	0.12543	CTA		0.343	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	NM_144690		32	23	1	0	2.09667e-21	0.064281	2.85146e-21	32	23				
SLC5A6	8884	broad.mit.edu	37	2	27426720	27426720	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr2:27426720C>A	ENST00000310574.3	-	10	1494	c.1021G>T	c.(1021-1023)Gtg>Ttg	p.V341L	SLC5A6_ENST00000408041.1_Missense_Mutation_p.V341L|SLC5A6_ENST00000461319.1_5'Flank	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	341					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	AGATCCATCACAAAGTACAGG	0.582																																							uc002rjd.2		NA																	0				ovary(2)	2						c.(1021-1023)GTG>TTG		solute carrier family 5 (sodium-dependent	Biotin(DB00121)|Lipoic Acid(DB00166)						53.0	51.0	52.0					2																	27426720		2203	4300	6503	SO:0001583	missense	8884				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity	g.chr2:27426720C>A	AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"""Solute carriers"""	11041	protein-coding gene	gene with protein product		604024	"""solute carrier family 5 (sodium-dependent vitamin transporter), member 6"""			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.1021G>T	2.37:g.27426720C>A	ENSP00000310208:p.Val341Leu					SLC5A6_uc010eyv.1_Missense_Mutation_p.V341L	p.V341L	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN			10	1412	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		341			Helical; (Potential).		B2RB85|D6W549|Q969Y5	Missense_Mutation	SNP	ENST00000310574.3	37	c.1021G>T	CCDS1740.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424699	0.83667	.	.	ENSG00000138074	ENST00000310574;ENST00000408041	D;D	0.89415	-2.51;-2.51	5.29	4.41	0.53225	.	0.068112	0.64402	D	0.000018	D	0.95098	0.8412	M	0.92880	3.355	0.80722	D	1	D	0.65815	0.995	D	0.72075	0.976	D	0.95292	0.8396	10	0.72032	D	0.01	.	11.2684	0.49124	0.0:0.9114:0.0:0.0886	.	341	Q9Y289	SC5A6_HUMAN	L	341	ENSP00000310208:V341L;ENSP00000384853:V341L	ENSP00000310208:V341L	V	-	1	0	SLC5A6	27280224	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	7.585000	0.82584	1.227000	0.43598	0.563000	0.77884	GTG		0.582	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095		15	18	1	0	4.75885e-15	0.0333	6.04863e-15	15	18				
SNX17	9784	broad.mit.edu	37	2	27598474	27598474	+	Silent	SNP	G	G	A	rs143476894		TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr2:27598474G>A	ENST00000233575.2	+	10	1098	c.876G>A	c.(874-876)gcG>gcA	p.A292A	ZNF513_ENST00000491924.1_5'Flank|SNX17_ENST00000537606.1_Silent_p.A267A|SNX17_ENST00000543024.1_Silent_p.A78A|SNX17_ENST00000542478.1_Silent_p.A78A	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	292	FERM-like.|PTB-like F3 module.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGTGAGCGCGGGCAACAGTG	0.632													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15503	0.0		0.0	False		,,,				2504	0.0						uc002rkg.1		NA																	0				ovary(1)	1						c.(874-876)GCG>GCA		sorting nexin 17		G		1,4405	2.1+/-5.4	0,1,2202	79.0	76.0	77.0		876	-0.9	1.0	2	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous	SNX17	NM_014748.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		292/471	27598474	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9784				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding	g.chr2:27598474G>A	D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"""Sorting nexins"""	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.876G>A	2.37:g.27598474G>A						SNX17_uc010ylj.1_Silent_p.A272A|SNX17_uc010ylk.1_Silent_p.A78A|SNX17_uc010eza.1_Silent_p.A78A|SNX17_uc002rki.1_RNA|SNX17_uc002rkh.1_Silent_p.A78A|SNX17_uc010yll.1_Silent_p.A78A|SNX17_uc010ylm.1_Silent_p.A78A|SNX17_uc010yln.1_Silent_p.A280A|SNX17_uc010ylo.1_Silent_p.A210A|SNX17_uc010ylp.1_Silent_p.A267A|SNX17_uc010ylq.1_Silent_p.A78A	p.A292A	NM_014748	NP_055563	Q15036	SNX17_HUMAN			10	1098	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		292					B4DQM7|Q53HN7|Q6IAS3	Silent	SNP	ENST00000233575.2	37	c.876G>A	CCDS1750.1																																																																																				0.632	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215024.1	NM_014748		18	142	0	0	0	0.049695	0	18	142				
SNRNP200	23020	broad.mit.edu	37	2	96952528	96952528	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr2:96952528C>T	ENST00000323853.5	-	28	3804	c.3727G>A	c.(3727-3729)Gcc>Acc	p.A1243T	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1243	SEC63 1.				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)			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						GCGTACTTGGCCTTGAGGAGA	0.542																																							uc002svu.2		NA																	0				ovary(5)|skin(4)|large_intestine(1)	10						c.(3727-3729)GCC>ACC		activating signal cointegrator 1 complex subunit							145.0	142.0	143.0					2																	96952528		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.chr2:96952528C>T	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.3727G>A	2.37:g.96952528C>T	ENSP00000317123:p.Ala1243Thr					SNRNP200_uc002svt.2_5'Flank|SNRNP200_uc010yuj.1_5'Flank|SNRNP200_uc002svv.1_5'Flank|SNRNP200_uc002svw.1_Missense_Mutation_p.A315T	p.A1243T	NM_014014	NP_054733	O75643	U520_HUMAN			28	3813	-			1243			SEC63 1.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.3727G>A	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070974	0.76301	.	.	ENSG00000144028	ENST00000323853	T	0.60299	0.2	4.75	4.75	0.60458	Sec63 domain (3);	0.000000	0.85682	D	0.000000	T	0.58566	0.2131	L	0.61218	1.895	0.80722	D	1	B	0.15719	0.014	B	0.25759	0.063	T	0.58994	-0.7537	10	0.51188	T	0.08	-17.5056	16.6715	0.85268	0.0:1.0:0.0:0.0	.	1243	O75643	U520_HUMAN	T	1243	ENSP00000317123:A1243T	ENSP00000317123:A1243T	A	-	1	0	SNRNP200	96316255	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.553000	0.82203	2.477000	0.83638	0.455000	0.32223	GCC		0.542	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		31	66	0	0	0	0.054565	0	31	66				
MARCO	8685	broad.mit.edu	37	2	119739028	119739028	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr2:119739028G>A	ENST00000327097.4	+	9	945	c.810G>A	c.(808-810)atG>atA	p.M270I	MARCO_ENST00000541757.1_Missense_Mutation_p.M192I	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	270	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.M270I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CAGGGGTCATGGGGCCTCCTG	0.557																																					GBM(8;18 374 7467 11269 32796)	GBM(8;18 374 7467 11269 32796)	uc002tln.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(808-810)ATG>ATA		macrophage receptor with collagenous structure							36.0	36.0	36.0					2																	119739028		2203	4300	6503	SO:0001583	missense	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119739028G>A	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.810G>A	2.37:g.119739028G>A	ENSP00000318916:p.Met270Ile					MARCO_uc010yyf.1_Missense_Mutation_p.M192I	p.M270I	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN			9	942	+			270			Collagen-like.|Extracellular (Potential).		B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	c.810G>A	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.434994	0.25813	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	D;D	0.83591	-1.74;-1.74	5.33	2.45	0.29901	.	0.332317	0.29444	N	0.012126	T	0.62708	0.2450	N	0.12182	0.205	0.30116	N	0.806142	B	0.14805	0.011	B	0.20767	0.031	T	0.50684	-0.8799	9	.	.	.	.	4.198	0.10452	0.0861:0.1574:0.5936:0.1629	.	270	Q9UEW3	MARCO_HUMAN	I	270;270;192	ENSP00000318916:M270I;ENSP00000441769:M192I	.	M	+	3	0	MARCO	119455498	0.998000	0.40836	0.953000	0.39169	0.807000	0.45602	0.621000	0.24418	0.787000	0.33731	0.655000	0.94253	ATG		0.557	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		16	23	0	0	0	0.069288	0	16	23				
SMOX	54498	broad.mit.edu	37	20	4163119	4163119	+	Silent	SNP	C	C	T	rs372376962		TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr20:4163119C>T	ENST00000305958.4	+	5	1218	c.993C>T	c.(991-993)acC>acT	p.T331T	SMOX_ENST00000379460.2_Silent_p.T331T|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000278795.3_Intron|SMOX_ENST00000339123.6_Intron	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	331					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	TGATTGTGACCGTGTCGCTAG	0.632													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18036	0.0		0.0	False		,,,				2504	0.0						uc002wkm.1		NA																	0				breast(1)	1						c.(991-993)ACC>ACT		spermine oxidase isoform 1	Spermine(DB00127)	C	,,,	1,4405	2.1+/-5.4	0,1,2202	97.0	85.0	89.0		993,,,	-1.2	1.0	20		89	0,8600		0,0,4300	no	coding-synonymous,intron,intron,intron	SMOX	NM_175839.1,NM_175840.1,NM_175841.1,NM_175842.1	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	331/556,,,	4163119	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54498				polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	g.chr20:4163119C>T	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"""chromosome 20 open reading frame 16"""	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.993C>T	20.37:g.4163119C>T						SMOX_uc002wkk.1_Intron|SMOX_uc002wkl.1_Intron|SMOX_uc002wkn.1_Intron|SMOX_uc002wkp.2_Silent_p.T331T|SMOX_uc010zqo.1_Intron|SMOX_uc002wko.1_Silent_p.T331T	p.T331T	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN			5	1194	+			331					A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Silent	SNP	ENST00000305958.4	37	c.993C>T	CCDS13075.1																																																																																				0.632	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842		5	104	0	0	0	0.021553	0	5	104				
ZNF831	128611	broad.mit.edu	37	20	57767569	57767569	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr20:57767569G>A	ENST00000371030.2	+	1	1495	c.1495G>A	c.(1495-1497)Gtc>Atc	p.V499I		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	499							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGTGGAATGTGTCCCCGTCAC	0.701																																							uc002yan.2		NA																	0				skin(13)|ovary(1)	14						c.(1495-1497)GTC>ATC		zinc finger protein 831							21.0	25.0	24.0					20																	57767569		1982	4146	6128	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767569G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1495G>A	20.37:g.57767569G>A	ENSP00000360069:p.Val499Ile						p.V499I	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	1495	+	all_lung(29;0.0085)		499					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.1495G>A	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769673	0.49680	.	.	ENSG00000124203	ENST00000371030	T	0.12879	2.64	5.21	2.18	0.27775	.	.	.	.	.	T	0.16214	0.0390	M	0.61703	1.905	0.09310	N	1	P	0.36599	0.56	B	0.36186	0.219	T	0.08953	-1.0697	9	0.72032	D	0.01	-3.409	9.9065	0.41379	0.2242:0.0:0.7758:0.0	.	499	Q5JPB2	ZN831_HUMAN	I	499	ENSP00000360069:V499I	ENSP00000360069:V499I	V	+	1	0	ZNF831	57200964	0.198000	0.23374	0.002000	0.10522	0.554000	0.35429	1.709000	0.37909	0.206000	0.20587	0.655000	0.94253	GTC		0.701	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		12	27	0	0	0	0.09319	0	12	27				
SLC5A1	6523	broad.mit.edu	37	22	32498215	32498215	+	Silent	SNP	G	G	A	rs375169164		TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr22:32498215G>A	ENST00000266088.4	+	13	1906	c.1656G>A	c.(1654-1656)ccG>ccA	p.P552P	SLC5A1_ENST00000543737.1_Silent_p.P425P	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	552					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)	p.P552P(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	AACCCATTCCGGATGTGCATG	0.403																																							uc003amc.2		NA																	1	Substitution - coding silent(1)		prostate(1)	skin(1)	1						c.(1654-1656)CCG>CCA		solute carrier family 5 (sodium/glucose		G		1,4405	2.1+/-5.4	0,1,2202	246.0	201.0	216.0		1656	0.6	1.0	22		216	0,8600		0,0,4300	no	coding-synonymous	SLC5A1	NM_000343.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		552/665	32498215	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32498215G>A		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1656G>A	22.37:g.32498215G>A						SLC5A1_uc011alz.1_Silent_p.P425P	p.P552P	NM_000343	NP_000334	P13866	SC5A1_HUMAN			13	1888	+			552			Cytoplasmic (Potential).		B2R7E2|B7Z4Q9|B7ZA69	Silent	SNP	ENST00000266088.4	37	c.1656G>A	CCDS13902.1																																																																																				0.403	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		16	96	0	0	0	0.049695	0	16	96				
EIF3D	8664	broad.mit.edu	37	22	36921726	36921726	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr22:36921726C>T	ENST00000216190.8	-	3	524	c.154G>A	c.(154-156)Gat>Aat	p.D52N	EIF3D_ENST00000405442.1_Missense_Mutation_p.D52N|EIF3D_ENST00000541106.1_Missense_Mutation_p.D52N	NM_003753.3	NP_003744.1			eukaryotic translation initiation factor 3, subunit D											cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						TACCTCTTATCTTGGTATGTG	0.438																																							uc003apq.2		NA																	0				pancreas(1)	1						c.(154-156)GAT>AAT		eukaryotic translation initiation factor 3							157.0	150.0	152.0					22																	36921726		2203	4300	6503	SO:0001583	missense	8664					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:36921726C>T	U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353			3278	protein-coding gene	gene with protein product		603915	"""eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa"""	EIF3S7		9341143	Standard	NM_003753		Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.154G>A	22.37:g.36921726C>T	ENSP00000216190:p.Asp52Asn					EIF3D_uc003apr.2_Missense_Mutation_p.D52N|EIF3D_uc011ams.1_5'UTR|EIF3D_uc011amt.1_Missense_Mutation_p.D52N	p.D52N	NM_003753	NP_003744	O15371	EIF3D_HUMAN			3	270	-			52						Missense_Mutation	SNP	ENST00000216190.8	37	c.154G>A	CCDS13930.1	.	.	.	.	.	.	.	.	.	.	C	35	5.584004	0.96578	.	.	ENSG00000100353	ENST00000216190;ENST00000397177;ENST00000541106;ENST00000405442;ENST00000455547;ENST00000457241;ENST00000432675;ENST00000402116	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.75148	0.3810	L	0.49513	1.565	0.80722	D	1	D;P	0.89917	1.0;0.701	D;P	0.78314	0.991;0.679	T	0.69847	-0.5034	9	0.28530	T	0.3	-20.2625	19.7405	0.96228	0.0:1.0:0.0:0.0	.	52;52	B4DVY1;O15371	.;EIF3D_HUMAN	N	52	.	ENSP00000216190:D52N	D	-	1	0	EIF3D	35251672	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.234000	0.78134	2.655000	0.90218	0.655000	0.94253	GAT		0.438	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319026.1			46	31	0	0	0	0.048971	0	46	31				
VGLL4	9686	broad.mit.edu	37	3	11643423	11643423	+	Silent	SNP	G	G	A	rs151086238	byFrequency	TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr3:11643423G>A	ENST00000430365.2	-	2	561	c.156C>T	c.(154-156)acC>acT	p.T52T	VGLL4_ENST00000413604.1_5'UTR|VGLL4_ENST00000480288.1_5'Flank|VGLL4_ENST00000404339.1_Silent_p.T51T|VGLL4_ENST00000273038.3_Silent_p.T46T	NM_001128219.1	NP_001121691.1	Q14135	VGLL4_HUMAN	vestigial-like family member 4	46					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		GGGGAGGGCCGGTGCGGTGAC	0.592													G|||	4	0.000798722	0.003	0.0	5008	,	,		13377	0.0		0.0	False		,,,				2504	0.0						uc003bwf.2		NA																	0				ovary(1)	1						c.(136-138)ACC>ACT		vestigial like 4 isoform b		G	,	21,4385	28.1+/-56.4	0,21,2182	79.0	77.0	78.0		156,138	-10.7	0.0	3	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	VGLL4	NM_001128219.1,NM_014667.2	,	0,22,6481	AA,AG,GG		0.0116,0.4766,0.1692	,	52/297,46/291	11643423	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	9686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:11643423G>A	D50911	CCDS2606.1, CCDS46754.1, CCDS46755.1, CCDS46756.1, CCDS68342.1, CCDS68343.1	3p25.2	2014-03-03	2014-03-03		ENSG00000144560	ENSG00000144560			28966	protein-coding gene	gene with protein product			"""vestigial like 4 (Drosophila)"""			8590280, 15140898	Standard	NM_001284390		Approved	KIAA0121	uc010hdx.1	Q14135	OTTHUMG00000129739	ENST00000430365.2:c.156C>T	3.37:g.11643423G>A						VGLL4_uc010hdx.1_Silent_p.T52T|VGLL4_uc003bwg.2_Silent_p.T51T|VGLL4_uc011aun.1_5'UTR	p.T46T	NM_014667	NP_055482	Q14135	VGLL4_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)	3	504	-			46					B4DTS7|J3KN68|Q7L5V0|Q9BQ78	Silent	SNP	ENST00000430365.2	37	c.138C>T	CCDS46754.1																																																																																				0.592	VGLL4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339133.1	NM_014667		3	104	0	0	0	0.004672	0	3	104				
RFTN1	23180	broad.mit.edu	37	3	16411726	16411726	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr3:16411726T>C	ENST00000334133.4	-	6	1159	c.887A>G	c.(886-888)tAc>tGc	p.Y296C	RFTN1_ENST00000432519.1_Missense_Mutation_p.Y260C|RFTN1_ENST00000483671.1_5'UTR	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	296					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GGTGACAGGGTAGTATTGCCG	0.502																																							uc003cay.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(886-888)TAC>TGC		raft-linking protein							246.0	238.0	241.0					3																	16411726		2203	4300	6503	SO:0001583	missense	23180					plasma membrane		g.chr3:16411726T>C	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.887A>G	3.37:g.16411726T>C	ENSP00000334153:p.Tyr296Cys					RFTN1_uc010hes.2_Missense_Mutation_p.Y260C	p.Y296C	NM_015150	NP_055965	Q14699	RFTN1_HUMAN			6	1169	-			296					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	37	c.887A>G	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.091816	0.76756	.	.	ENSG00000131378	ENST00000432519;ENST00000334133	T;T	0.35421	1.31;1.31	5.68	5.68	0.88126	.	0.059054	0.64402	D	0.000001	T	0.61236	0.2331	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.65298	-0.6202	10	0.72032	D	0.01	-23.9779	15.9355	0.79704	0.0:0.0:0.0:1.0	.	260;296	G3XAJ6;Q14699	.;RFTN1_HUMAN	C	260;296	ENSP00000403926:Y260C;ENSP00000334153:Y296C	ENSP00000334153:Y296C	Y	-	2	0	RFTN1	16386730	1.000000	0.71417	0.938000	0.37757	0.943000	0.58893	6.301000	0.72782	2.179000	0.69175	0.459000	0.35465	TAC		0.502	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		75	171	0	0	0	0.048971	0	75	171				
KAT2B	8850	broad.mit.edu	37	3	20136892	20136892	+	Silent	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr3:20136892C>T	ENST00000263754.4	+	3	1023	c.568C>T	c.(568-570)Cta>Tta	p.L190L	KAT2B_ENST00000426228.1_3'UTR	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	190					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TTATTTCTATCTATTTAAGGT	0.368																																							uc003cbq.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(568-570)CTA>TTA		K(lysine) acetyltransferase 2B							75.0	81.0	79.0					3																	20136892		2203	4300	6503	SO:0001819	synonymous_variant	8850				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding	g.chr3:20136892C>T	U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.568C>T	3.37:g.20136892C>T							p.L190L	NM_003884	NP_003875	Q92831	KAT2B_HUMAN			3	1014	+			190					Q6NSK1	Silent	SNP	ENST00000263754.4	37	c.568C>T	CCDS2634.1																																																																																				0.368	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884		6	15	0	0	0	0.038147	0	6	15				
SLC4A7	9497	broad.mit.edu	37	3	27453205	27453205	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr3:27453205G>A	ENST00000295736.5	-	12	1737	c.1667C>T	c.(1666-1668)tCt>tTt	p.S556F	SLC4A7_ENST00000455077.1_Missense_Mutation_p.S437F|SLC4A7_ENST00000445684.1_Missense_Mutation_p.S552F|SLC4A7_ENST00000440156.1_Missense_Mutation_p.S552F|SLC4A7_ENST00000435667.2_Missense_Mutation_p.S441F|SLC4A7_ENST00000425128.2_Missense_Mutation_p.S548F|SLC4A7_ENST00000437179.1_Missense_Mutation_p.S437F|SLC4A7_ENST00000388777.4_Missense_Mutation_p.S106F|SLC4A7_ENST00000428386.1_Missense_Mutation_p.S432F|SLC4A7_ENST00000446700.1_Missense_Mutation_p.S548F|SLC4A7_ENST00000454389.1_Missense_Mutation_p.S565F	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	556					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	TGTGGGGGTAGATCCATTGTG	0.418																																							uc003cdv.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1666-1668)TCT>TTT		solute carrier family 4, sodium bicarbonate							59.0	61.0	60.0					3																	27453205		2203	4300	6503	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27453205G>A	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.1667C>T	3.37:g.27453205G>A	ENSP00000295736:p.Ser556Phe					SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.S437F|SLC4A7_uc011aww.1_Missense_Mutation_p.S565F|SLC4A7_uc011awx.1_Missense_Mutation_p.S552F|SLC4A7_uc011awy.1_Missense_Mutation_p.S548F|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.S437F|SLC4A7_uc011axb.1_Missense_Mutation_p.S552F|SLC4A7_uc010hfl.2_Missense_Mutation_p.S106F|SLC4A7_uc003cdw.2_Missense_Mutation_p.S432F	p.S556F	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN			12	1738	-			556			Extracellular (Potential).		A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.1667C>T	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891154	0.33348	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000425128;ENST00000428179	D;T;T;T;T;T;T;T;T;T;D;T;T	0.81659	-1.52;-1.2;-1.23;-1.2;-1.28;-1.23;-1.28;-1.23;-1.28;-1.23;-1.52;0.23;-1.23	5.63	5.63	0.86233	.	0.156234	0.64402	D	0.000016	D	0.84151	0.5409	L	0.53249	1.67	0.40320	D	0.97881	B;P;B;P;P;P;P;B;P	0.45474	0.402;0.69;0.402;0.859;0.545;0.548;0.794;0.402;0.69	B;B;B;P;B;B;P;B;B	0.49708	0.243;0.284;0.243;0.62;0.243;0.275;0.476;0.243;0.257	D	0.84958	0.0875	10	0.59425	D	0.04	.	20.054	0.97641	0.0:0.0:1.0:0.0	.	552;437;548;552;565;106;432;556;437	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	F	107;556;432;565;552;437;548;437;552;441;106;548;452	ENSP00000411031:S107F;ENSP00000295736:S556F;ENSP00000416368:S432F;ENSP00000390394:S565F;ENSP00000414797:S552F;ENSP00000394252:S437F;ENSP00000406605:S548F;ENSP00000407382:S437F;ENSP00000406804:S552F;ENSP00000395336:S441F;ENSP00000373429:S106F;ENSP00000401949:S548F;ENSP00000388703:S452F	ENSP00000295736:S556F	S	-	2	0	SLC4A7	27428209	1.000000	0.71417	1.000000	0.80357	0.139000	0.21198	3.869000	0.56062	2.808000	0.96608	0.655000	0.94253	TCT		0.418	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		6	30	0	0	0	0.02938	0	6	30				
SCN5A	6331	broad.mit.edu	37	3	38616870	38616870	+	Missense_Mutation	SNP	C	C	T	rs199473596		TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr3:38616870C>T	ENST00000333535.4	-	20	3733	c.3584G>A	c.(3583-3585)cGc>cAc	p.R1195H	SCN5A_ENST00000451551.2_Missense_Mutation_p.R1141H|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1141H|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1141H|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1194H|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1195H|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1194H|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1194H|SCN5A_ENST00000413689.1_Missense_Mutation_p.R1195H|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1195H			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1195					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)	p.R1195H(1)		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)	GCAGGTCTTGCGCAACCGCCA	0.612																																							uc003cio.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9						c.(3583-3585)CGC>CAC		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)						36.0	39.0	38.0					3																	38616870		2203	4300	6503	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.chr3:38616870C>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.3584G>A	3.37:g.38616870C>T	ENSP00000328968:p.Arg1195His					SCN5A_uc003cin.2_Missense_Mutation_p.R1194H|SCN5A_uc003cil.3_Missense_Mutation_p.R1195H|SCN5A_uc010hhi.2_Missense_Mutation_p.R1195H|SCN5A_uc010hhk.2_Missense_Mutation_p.R1194H|SCN5A_uc011ayr.1_Missense_Mutation_p.R1141H|SCN5A_uc010hhj.1_Missense_Mutation_p.R805H	p.R1195H	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	20	3778	-	Medulloblastoma(35;0.163)		1195					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.3584G>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004889	0.93287	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98105	-4.72;-4.72;-4.72;-4.72;-4.72;-4.72;-4.72;-4.72;-4.72;-4.72	4.31	4.31	0.51392	Sodium ion transport-associated (1);	0.105565	0.64402	D	0.000008	D	0.98934	0.9638	M	0.91717	3.235	0.50632	D	0.999885	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.995;0.918;0.979;0.988;0.999;0.979;0.95	D	0.99505	1.0954	10	0.87932	D	0	.	16.9506	0.86244	0.0:1.0:0.0:0.0	.	1141;1194;1195;1195;1195;1194;1195	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	H	1195;1194;1195;1141;1194;1195;1195;1194;1141;1141	ENSP00000398962:R1195H;ENSP00000398266:R1194H;ENSP00000410257:R1195H;ENSP00000388797:R1141H;ENSP00000397915:R1194H;ENSP00000416634:R1195H;ENSP00000328968:R1195H;ENSP00000399524:R1194H;ENSP00000403355:R1141H;ENSP00000413996:R1141H	ENSP00000328968:R1195H	R	-	2	0	SCN5A	38591874	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.413000	0.81919	0.655000	0.94253	CGC		0.612	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		5	17	0	0	0	0.014758	0	5	17				
SENP7	57337	broad.mit.edu	37	3	101049218	101049218	+	Missense_Mutation	SNP	C	C	A	rs61761868		TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr3:101049218C>A	ENST00000394095.2	-	20	2764	c.2711G>T	c.(2710-2712)cGt>cTt	p.R904L	SENP7_ENST00000394094.2_Missense_Mutation_p.R839L|SENP7_ENST00000348610.3_Missense_Mutation_p.R871L|SENP7_ENST00000358203.3_Missense_Mutation_p.R740L|SENP7_ENST00000394091.1_Missense_Mutation_p.R740L|SENP7_ENST00000394085.3_Missense_Mutation_p.R92L|SENP7_ENST00000314261.7_Missense_Mutation_p.R838L	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	904	Protease.					intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CGAAGTAGTACGTAGATCATT	0.303																																							uc003dut.2		NA																	0				ovary(3)|lung(2)	5						c.(2710-2712)CGT>CTT		sentrin/SUMO-specific protease 7 isoform 1							97.0	94.0	95.0					3																	101049218		2203	4300	6503	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101049218C>A		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2711G>T	3.37:g.101049218C>A	ENSP00000377655:p.Arg904Leu					SENP7_uc003duu.2_Missense_Mutation_p.R839L|SENP7_uc003duv.2_Missense_Mutation_p.R871L|SENP7_uc003duw.2_Missense_Mutation_p.R838L|SENP7_uc003dux.2_Missense_Mutation_p.R740L|SENP7_uc003dus.2_Missense_Mutation_p.R92L	p.R904L	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN			20	2822	-			904			Protease.		A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.2711G>T	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	C	2.850	-0.238514	0.05944	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000394085;ENST00000348610	T;T;T;T;T;T;T	0.31510	2.17;2.18;2.18;2.16;2.16;1.49;2.17	5.22	1.58	0.23477	.	0.811648	0.11267	N	0.581991	T	0.23410	0.0566	L	0.34521	1.04	0.09310	N	0.999992	B;B;B;B;B	0.23249	0.055;0.001;0.047;0.01;0.082	B;B;B;B;B	0.30029	0.026;0.017;0.11;0.021;0.041	T	0.30416	-0.9979	10	0.45353	T	0.12	-4.7746	6.3249	0.21239	0.0:0.2939:0.0:0.7061	.	740;838;871;904;92	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6;Q9BQF6-3	.;.;.;SENP7_HUMAN;.	L	904;839;838;740;740;92;871	ENSP00000377655:R904L;ENSP00000377654:R839L;ENSP00000313624:R838L;ENSP00000377651:R740L;ENSP00000350936:R740L;ENSP00000377647:R92L;ENSP00000342159:R871L	ENSP00000313624:R838L	R	-	2	0	SENP7	102531908	0.015000	0.18098	0.913000	0.36048	0.054000	0.15201	0.279000	0.18771	0.327000	0.23409	-0.483000	0.04790	CGT		0.303	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		13	26	1	0	0.00185496	0.105934	0.00195561	13	26				
SENP7	57337	broad.mit.edu	37	3	101060531	101060531	+	Silent	SNP	A	A	G			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr3:101060531A>G	ENST00000394095.2	-	15	2252	c.2199T>C	c.(2197-2199)gaT>gaC	p.D733D	SENP7_ENST00000394094.2_Silent_p.D668D|SENP7_ENST00000348610.3_Silent_p.D700D|SENP7_ENST00000358203.3_Silent_p.D569D|SENP7_ENST00000394091.1_Silent_p.D569D|SENP7_ENST00000314261.7_Silent_p.D667D	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	733						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCCATTCTTCATCTGGATTAG	0.433																																							uc003dut.2		NA																	0				ovary(3)|lung(2)	5						c.(2197-2199)GAT>GAC		sentrin/SUMO-specific protease 7 isoform 1							132.0	115.0	121.0					3																	101060531		2203	4300	6503	SO:0001819	synonymous_variant	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101060531A>G		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2199T>C	3.37:g.101060531A>G						SENP7_uc003duu.2_Silent_p.D668D|SENP7_uc003duv.2_Silent_p.D700D|SENP7_uc003duw.2_Silent_p.D667D|SENP7_uc003dux.2_Silent_p.D569D	p.D733D	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN			15	2310	-			733					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Silent	SNP	ENST00000394095.2	37	c.2199T>C	CCDS2941.2																																																																																				0.433	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		18	37	0	0	0	0.055883	0	18	37				
ABTB1	80325	broad.mit.edu	37	3	127395254	127395254	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr3:127395254G>A	ENST00000232744.8	+	5	546	c.460G>A	c.(460-462)Gtg>Atg	p.V154M	ABTB1_ENST00000468137.1_Missense_Mutation_p.V12M|ABTB1_ENST00000453791.2_Missense_Mutation_p.V12M|ABTB1_ENST00000393363.3_Missense_Mutation_p.V12M					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CAAGAGTGTCGTGGTTCTCAG	0.582																																							uc003ejt.2		NA																	0					0						c.(460-462)GTG>ATG		ankyrin repeat and BTB (POZ) domain containing 1							155.0	115.0	129.0					3																	127395254		2203	4300	6503	SO:0001583	missense	80325					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity	g.chr3:127395254G>A	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.460G>A	3.37:g.127395254G>A	ENSP00000232744:p.Val154Met					ABTB1_uc003ejr.2_Missense_Mutation_p.V12M|ABTB1_uc003ejs.2_Missense_Mutation_p.V129M|ABTB1_uc003eju.2_Missense_Mutation_p.V12M|ABTB1_uc010hsm.2_5'Flank	p.V154M	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN			5	548	+			154			BTB 1.			Missense_Mutation	SNP	ENST00000232744.8	37	c.460G>A	CCDS3045.1	.	.	.	.	.	.	.	.	.	.	g	13.02	2.111231	0.37242	.	.	ENSG00000114626	ENST00000393363;ENST00000232744;ENST00000453791;ENST00000468137	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	4.58	2.46	0.29980	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.181886	0.43747	D	0.000526	T	0.73345	0.3575	M	0.74389	2.26	0.31549	N	0.659016	D;D	0.76494	0.998;0.999	D;P	0.67900	0.954;0.892	T	0.71784	-0.4488	10	0.46703	T	0.11	-20.0929	2.1968	0.03913	0.3256:0.3274:0.3469:0.0	.	154;129	Q969K4;Q969K4-3	ABTB1_HUMAN;.	M	12;154;12;12	ENSP00000377030:V12M;ENSP00000232744:V154M;ENSP00000412684:V12M;ENSP00000417366:V12M	ENSP00000232744:V154M	V	+	1	0	ABTB1	128877944	1.000000	0.71417	0.403000	0.26384	0.028000	0.11728	6.246000	0.72405	0.937000	0.37394	-0.217000	0.12591	GTG		0.582	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027		19	26	0	0	0	0.043863	0	19	26				
MED12L	116931	broad.mit.edu	37	3	151101588	151101588	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr3:151101588G>C	ENST00000474524.1	+	32	4635	c.4597G>C	c.(4597-4599)Gtg>Ctg	p.V1533L	MED12L_ENST00000273432.4_Missense_Mutation_p.V1393L|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1533						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTTTGACACGGTGCAGAGGAG	0.403																																							uc003eyp.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(4597-4599)GTG>CTG		mediator of RNA polymerase II transcription,							86.0	79.0	81.0					3																	151101588		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151101588G>C	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4597G>C	3.37:g.151101588G>C	ENSP00000417235:p.Val1533Leu					MED12L_uc011bnz.1_Missense_Mutation_p.V1393L|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.V696L	p.V1533L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		32	4635	+			1533					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.4597G>C	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872579	0.72180	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.68624	-0.12;-0.34	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.73590	0.3606	L	0.50333	1.59	0.80722	D	1	D;P;P	0.53312	0.959;0.582;0.767	P;B;B	0.58210	0.835;0.329;0.344	T	0.75266	-0.3378	10	0.87932	D	0	-22.8324	13.1445	0.59452	0.0731:0.0:0.9269:0.0	.	1393;1532;1533	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	L	1533;1393	ENSP00000417235:V1533L;ENSP00000273432:V1393L	ENSP00000273432:V1393L	V	+	1	0	MED12L	152584278	1.000000	0.71417	0.973000	0.42090	0.987000	0.75469	7.728000	0.84847	2.793000	0.96121	0.655000	0.94253	GTG		0.403	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		12	34	0	0	0	0.105934	0	12	34				
GABRA4	2557	broad.mit.edu	37	4	46967031	46967032	+	Missense_Mutation	DNP	CG	CG	AA	rs112484538		TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr4:46967031_46967032CG>AA	ENST00000264318.3	-	8	2071_2072	c.1089_1090CG>TT	c.(1087-1092)ccCGct>ccTTct	p.A364S		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	364					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	ACTGGAGCAGCGGGAACTTCCT	0.426																																					Ovarian(6;283 369 8234 12290 33402)	Ovarian(6;283 369 8234 12290 33402)	uc003gxg.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4						c.(1087-1092)CCCGCT>CCTTCT		gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)																																			SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46967031_46967032CG>AA		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1089_1090delinsAA	4.37:g.46967031_46967032delinsAA	ENSP00000264318:p.Ala364Ser						p.A364S	NM_000809	NP_000800	P48169	GBRA4_HUMAN			8	1228_1229	-			364			Cytoplasmic (Probable).		Q8IYR7	Missense_Mutation	DNP	ENST00000264318.3	37	c.1089_1090CG>TT	CCDS3473.1																																																																																				0.426	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			13	48	0	0	0	0.004672	0	13	48				
CSN1S1	1446	broad.mit.edu	37	4	70810659	70810659	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr4:70810659C>T	ENST00000246891.4	+	15	543	c.494C>T	c.(493-495)tCc>tTc	p.S165F	CSN1S1_ENST00000507772.1_Missense_Mutation_p.S157F|CSN1S1_ENST00000444405.3_Missense_Mutation_p.S156F|CSN1S1_ENST00000507763.1_Missense_Mutation_p.S156F|CSN1S1_ENST00000505782.1_Missense_Mutation_p.S149F	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	165						extracellular region (GO:0005576)|extracellular space (GO:0005615)	transporter activity (GO:0005215)			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						CCACCGTTTTCCGACATCTCC	0.418																																							uc003hep.1		NA																	0					0						c.(493-495)TCC>TTC		casein alpha s1 isoform 1							274.0	260.0	264.0					4																	70810659		1922	4131	6053	SO:0001583	missense	1446					extracellular region	protein binding|transporter activity	g.chr4:70810659C>T	X78416	CCDS47067.1, CCDS54769.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000126545	ENSG00000126545			2445	protein-coding gene	gene with protein product		115450	"""casein, alpha"""	CASA, CSN1		9050925, 7619062	Standard	NM_001890		Approved		uc003hep.1	P47710	OTTHUMG00000160843	ENST00000246891.4:c.494C>T	4.37:g.70810659C>T	ENSP00000246891:p.Ser165Phe					CSN1S1_uc003heq.1_Missense_Mutation_p.S156F|CSN1S1_uc003her.1_Missense_Mutation_p.S157F	p.S165F	NM_001890	NP_001881	P47710	CASA1_HUMAN			15	543	+			165					A1A510|A1A511|E9PB60|Q4PNR5	Missense_Mutation	SNP	ENST00000246891.4	37	c.494C>T	CCDS47067.1	.	.	.	.	.	.	.	.	.	.	C	9.052	0.992349	0.18966	.	.	ENSG00000126545	ENST00000246891;ENST00000444405;ENST00000354865;ENST00000507763;ENST00000507772;ENST00000505782;ENST00000510936	T;T;T;T;T;T	0.49139	0.9;0.89;0.89;0.89;0.89;0.79	4.28	-8.56	0.00904	.	3.688310	0.00659	N	0.000586	T	0.32496	0.0831	L	0.29908	0.895	0.09310	N	1.0	B;B;B	0.12013	0.005;0.005;0.005	B;B;B	0.10450	0.005;0.005;0.005	T	0.13124	-1.0521	9	0.30078	T	0.28	19.286	9.2608	0.37612	0.1216:0.4718:0.0:0.4065	.	157;156;165	E9PDQ1;E9PB60;P47710	.;.;CASA1_HUMAN	F	165;156;157;156;157;149;56	ENSP00000246891:S165F;ENSP00000413157:S156F;ENSP00000422611:S156F;ENSP00000427490:S157F;ENSP00000426684:S149F;ENSP00000421314:S56F	ENSP00000246891:S165F	S	+	2	0	CSN1S1	70845248	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.104000	0.01340	-2.574000	0.00466	-0.262000	0.10625	TCC		0.418	CSN1S1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362629.1			83	44	0	0	0	0.048971	0	83	44				
ZNF131	7690	broad.mit.edu	37	5	43174701	43174701	+	Silent	SNP	A	A	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr5:43174701A>T	ENST00000399534.1	+	7	1382	c.1338A>T	c.(1336-1338)tcA>tcT	p.S446S	ZNF131_ENST00000306938.4_Silent_p.S412S|ZNF131_ENST00000509156.1_Silent_p.S446S|ZNF131_ENST00000509634.1_Silent_p.S412S|ZNF131_ENST00000505606.2_Silent_p.S412S|ZNF131_ENST00000509931.1_Intron			P52739	ZN131_HUMAN	zinc finger protein 131	446					regulation of transcription, DNA-templated (GO:0006355)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						ACAATATTTCAGAGCGTCTAG	0.388																																							uc011cpw.1		NA																	0					0						c.(1336-1338)TCA>TCT		zinc finger protein 131							121.0	111.0	114.0					5																	43174701		1923	4127	6050	SO:0001819	synonymous_variant	7690					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:43174701A>T	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.1338A>T	5.37:g.43174701A>T						ZNF131_uc003jnj.3_Silent_p.S167S|ZNF131_uc003jnk.2_Silent_p.S412S|ZNF131_uc003jnn.3_Silent_p.S167S|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron	p.S446S	NM_003432	NP_003423	P52739	ZN131_HUMAN			7	1374	+			446					B4DRL3|Q6PIF0	Silent	SNP	ENST00000399534.1	37	c.1338A>T																																																																																					0.388	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	NM_003432		42	176	0	0	0	0.048971	0	42	176				
RASGRF2	5924	broad.mit.edu	37	5	80408504	80408504	+	Silent	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr5:80408504G>A	ENST00000265080.4	+	14	1981	c.1914G>A	c.(1912-1914)caG>caA	p.Q638Q	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	638	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AAGTGCCCCAGATCCGTTATG	0.473																																							uc003kha.1		NA																	0				breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12						c.(1912-1914)CAG>CAA		Ras protein-specific guanine							185.0	181.0	182.0					5																	80408504		2203	4300	6503	SO:0001819	synonymous_variant	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80408504G>A	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1914G>A	5.37:g.80408504G>A						RASGRF2_uc011ctn.1_RNA	p.Q638Q	NM_006909	NP_008840	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	14	1914	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	638			N-terminal Ras-GEF.		B9EG89|Q9UK56	Silent	SNP	ENST00000265080.4	37	c.1914G>A	CCDS4052.1																																																																																				0.473	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		6	213	0	0	0	0.038147	0	6	213				
RASA1	5921	broad.mit.edu	37	5	86627281	86627281	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr5:86627281C>A	ENST00000274376.6	+	2	1220	c.656C>A	c.(655-657)tCa>tAa	p.S219*	RASA1_ENST00000512763.1_Nonsense_Mutation_p.S52*|RASA1_ENST00000456692.2_Nonsense_Mutation_p.S42*|RASA1_ENST00000506290.1_Nonsense_Mutation_p.S53*	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	219	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TTTGTACTTTCATTTCTTAGC	0.388																																							uc003kiw.2		NA																	0				upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5	GRCh37	CM083066	RASA1	M		c.(655-657)TCA>TAA		RAS p21 protein activator 1 isoform 1							165.0	160.0	161.0					5																	86627281		2203	4300	6503	SO:0001587	stop_gained	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86627281C>A		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.656C>A	5.37:g.86627281C>A	ENSP00000274376:p.Ser219*					RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Nonsense_Mutation_p.S42*|RASA1_uc011ctv.1_Nonsense_Mutation_p.S52*|RASA1_uc011ctw.1_Nonsense_Mutation_p.S53*|RASA1_uc010jaw.2_Nonsense_Mutation_p.S42*|RASA1_uc011ctu.1_Nonsense_Mutation_p.S219*	p.S219*	NM_002890	NP_002881	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	2	774	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	219			SH2 1.		B2R6W3|Q9UDI1	Nonsense_Mutation	SNP	ENST00000274376.6	37	c.656C>A	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	C	43	10.062707	0.99329	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	.	.	.	5.35	5.35	0.76521	.	0.126233	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0646	0.93104	0.0:1.0:0.0:0.0	.	.	.	.	X	219;252;42;52;53	.	ENSP00000274376:S219X	S	+	2	0	RASA1	86663037	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.400000	0.79949	2.510000	0.84645	0.585000	0.79938	TCA		0.388	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		15	55	1	0	2.31682e-05	0.024245	2.56169e-05	15	55				
PCDHB12	56124	broad.mit.edu	37	5	140588669	140588669	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr5:140588669G>T	ENST00000239450.2	+	1	379	c.190G>T	c.(190-192)Gct>Tct	p.A64S	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	64	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGCGGGGGGCTCGGGTGGT	0.517																																							uc003liz.2		NA																	0				skin(2)|ovary(1)	3						c.(190-192)GCT>TCT		protocadherin beta 12 precursor							82.0	93.0	89.0					5																	140588669		2203	4300	6503	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140588669G>T	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.190G>T	5.37:g.140588669G>T	ENSP00000239450:p.Ala64Ser					PCDHB12_uc011dak.1_Intron	p.A64S	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	379	+			64			Extracellular (Potential).|Cadherin 1.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.190G>T	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.570069	0.45798	.	.	ENSG00000120328	ENST00000239450	T	0.38401	1.14	4.25	4.25	0.50352	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.50429	0.1615	M	0.91612	3.225	0.80722	D	1	B	0.13145	0.007	B	0.31191	0.125	T	0.59021	-0.7532	9	0.72032	D	0.01	.	11.0966	0.48147	0.0:0.0:0.8145:0.1855	.	64	Q9Y5F1	PCDBC_HUMAN	S	64	ENSP00000239450:A64S	ENSP00000239450:A64S	A	+	1	0	PCDHB12	140568853	0.001000	0.12720	0.025000	0.17156	0.261000	0.26267	1.085000	0.30840	2.076000	0.62316	0.561000	0.74099	GCT		0.517	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		50	54	1	0	5.22555e-25	0.048971	7.17854e-25	50	54				
PCDHB12	56124	broad.mit.edu	37	5	140590252	140590252	+	Silent	SNP	G	G	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr5:140590252G>T	ENST00000239450.2	+	1	1962	c.1773G>T	c.(1771-1773)gcG>gcT	p.A591A	PCDHB12_ENST00000541609.1_Silent_p.A254A	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	591	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGTGGTGGCGGTGGACGGTG	0.706																																							uc003liz.2		NA																	0				skin(2)|ovary(1)	3						c.(1771-1773)GCG>GCT		protocadherin beta 12 precursor							32.0	38.0	36.0					5																	140590252		2176	4246	6422	SO:0001819	synonymous_variant	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590252G>T	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1773G>T	5.37:g.140590252G>T						PCDHB12_uc011dak.1_Silent_p.A254A	p.A591A	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1962	+			591			Extracellular (Potential).|Cadherin 6.		B4DDU1	Silent	SNP	ENST00000239450.2	37	c.1773G>T	CCDS4254.1																																																																																				0.706	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		30	204	1	0	9.14704e-12	0.104719	1.07241e-11	30	204				
PCDHB14	56122	broad.mit.edu	37	5	140603954	140603954	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr5:140603954G>A	ENST00000239449.4	+	1	877	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K	PCDHB14_ENST00000515856.2_Missense_Mutation_p.E140K	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	293	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAAAACATTTGAAATTAATCC	0.378																																					Ovarian(141;50 1831 27899 33809 37648)	Ovarian(141;50 1831 27899 33809 37648)	uc003ljb.2		NA																	0				ovary(1)	1						c.(877-879)GAA>AAA		protocadherin beta 14 precursor							44.0	49.0	47.0					5																	140603954		2202	4300	6502	SO:0001583	missense	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140603954G>A	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.877G>A	5.37:g.140603954G>A	ENSP00000239449:p.Glu293Lys					PCDHB14_uc011dal.1_Missense_Mutation_p.E140K	p.E293K	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	877	+			293			Extracellular (Potential).|Cadherin 3.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.877G>A	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	7.032	0.560761	0.13498	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.51574	0.7;0.7	4.75	1.64	0.23874	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.27832	0.0685	N	0.20357	0.565	0.20074	N	0.999935	B	0.15473	0.013	B	0.15870	0.014	T	0.17198	-1.0377	9	0.33940	T	0.23	.	3.9248	0.09259	0.0855:0.387:0.3273:0.2002	.	293	Q9Y5E9	PCDBE_HUMAN	K	140;293	ENSP00000444518:E140K;ENSP00000239449:E293K	ENSP00000239449:E293K	E	+	1	0	PCDHB14	140584138	0.000000	0.05858	0.185000	0.23176	0.904000	0.53231	-1.100000	0.03339	0.497000	0.27926	0.655000	0.94253	GAA		0.378	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		16	13	0	0	0	0.024245	0	16	13				
GNPDA1	10007	broad.mit.edu	37	5	141384676	141384676	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr5:141384676C>A	ENST00000508177.1	-	4	1173	c.415G>T	c.(415-417)Ggc>Tgc	p.G139C	GNPDA1_ENST00000458112.2_Missense_Mutation_p.G105C|GNPDA1_ENST00000513454.1_Missense_Mutation_p.G139C|GNPDA1_ENST00000500692.2_Missense_Mutation_p.G139C|GNPDA1_ENST00000311337.6_Missense_Mutation_p.G139C|GNPDA1_ENST00000503794.1_Missense_Mutation_p.G139C|GNPDA1_ENST00000542860.1_Intron			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	139					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucosamine catabolic process (GO:0006043)|N-acetylglucosamine metabolic process (GO:0006044)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATCAGGGCCGATGCCTATA	0.552																																							uc003lmf.3		NA																	0					0						c.(415-417)GGC>TGC		glucosamine-6-phosphate deaminase 1							48.0	43.0	45.0					5																	141384676		2203	4300	6503	SO:0001583	missense	10007				generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity	g.chr5:141384676C>A	AF048826	CCDS4272.1	5q21	2008-02-05	2003-10-17	2003-10-22	ENSG00000113552	ENSG00000113552	3.5.99.6		4417	protein-coding gene	gene with protein product	"""glucosamine-6-phosphate deaminase"", ""oscillin"""	601798	"""glucosamine-6-phosphate isomerase"""	GNPI		9714720, 9438414	Standard	NM_005471		Approved	GNPDA, HLN, GPI, KIAA0060	uc010jgh.3	P46926	OTTHUMG00000129657	ENST00000508177.1:c.415G>T	5.37:g.141384676C>A	ENSP00000423674:p.Gly139Cys					GNPDA1_uc003lmg.3_Missense_Mutation_p.G139C|GNPDA1_uc010jgh.2_Missense_Mutation_p.G139C|GNPDA1_uc003lmh.3_Missense_Mutation_p.G105C	p.G139C	NM_005471	NP_005462	P46926	GNPI1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	1174	-		all_hematologic(541;0.118)	139					B7Z3X4|D3DQE7	Missense_Mutation	SNP	ENST00000508177.1	37	c.415G>T	CCDS4272.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046279	0.93740	.	.	ENSG00000113552	ENST00000513454;ENST00000311337;ENST00000458112;ENST00000500692;ENST00000508177;ENST00000503794;ENST00000504139;ENST00000505689;ENST00000510194	D;D;D;D;D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98;-2.98;-2.98;-2.98;-2.98	5.84	5.84	0.93424	Glucosamine-6-phosphate isomerase, conserved site (1);Glucosamine/galactosamine-6-phosphate isomerase (1);	0.000000	0.85682	D	0.000000	D	0.98169	0.9395	H	0.99312	4.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99097	1.0842	10	0.87932	D	0	-23.0603	20.1188	0.97953	0.0:1.0:0.0:0.0	.	105;139	E7EVU7;P46926	.;GNPI1_HUMAN	C	139;139;105;139;139;139;139;160;139	ENSP00000423494:G139C;ENSP00000311876:G139C;ENSP00000387718:G105C;ENSP00000424275:G139C;ENSP00000423674:G139C;ENSP00000423485:G139C;ENSP00000424625:G139C;ENSP00000421524:G160C;ENSP00000424537:G139C	ENSP00000311876:G139C	G	-	1	0	GNPDA1	141364860	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	7.487000	0.81328	2.767000	0.95098	0.591000	0.81541	GGC		0.552	GNPDA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370631.1	NM_005471		10	23	1	0	9.70103e-10	0.069234	1.11808e-09	10	23				
SLC26A2	1836	broad.mit.edu	37	5	149361032	149361032	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr5:149361032G>C	ENST00000286298.4	+	3	2144	c.1876G>C	c.(1876-1878)Gtg>Ctg	p.V626L		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	626	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGAAAAAGTAGTGACTCTTGG	0.383																																							uc003lrh.2		NA																	0					0						c.(1876-1878)GTG>CTG		solute carrier family 26 member 2							84.0	85.0	85.0					5																	149361032		2203	4300	6503	SO:0001583	missense	1836					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	g.chr5:149361032G>C	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.1876G>C	5.37:g.149361032G>C	ENSP00000286298:p.Val626Leu						p.V626L	NM_000112	NP_000103	P50443	S26A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	2144	+			626			STAS.|Extracellular (Potential).		A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	ENST00000286298.4	37	c.1876G>C	CCDS4300.1	.	.	.	.	.	.	.	.	.	.	G	3.152	-0.174079	0.06421	.	.	ENSG00000155850	ENST00000286298	D	0.93604	-3.25	5.98	4.18	0.49190	Sulphate transporter/antisigma-factor antagonist STAS (3);	15.435600	0.03732	U	0.253625	D	0.91157	0.7215	L	0.51422	1.61	0.19575	N	0.999969	B	0.02656	0.0	B	0.08055	0.003	T	0.75608	-0.3259	10	0.27785	T	0.31	.	8.2765	0.31874	0.1356:0.1296:0.7348:0.0	.	626	P50443	S26A2_HUMAN	L	626	ENSP00000286298:V626L	ENSP00000286298:V626L	V	+	1	0	SLC26A2	149341225	0.417000	0.25432	0.104000	0.21259	0.014000	0.08584	2.361000	0.44160	0.837000	0.34925	0.655000	0.94253	GTG		0.383	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112		27	42	0	0	0	0.099896	0	27	42				
ARSI	340075	broad.mit.edu	37	5	149677248	149677248	+	Silent	SNP	G	G	A	rs73268774	byFrequency	TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr5:149677248G>A	ENST00000328668.7	-	2	1818	c.1239C>T	c.(1237-1239)acC>acT	p.T413T		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	413					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGCACGGCGGTGTTCCAGA	0.647													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20589	0.0		0.0	False		,,,				2504	0.0						uc003lrv.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1237-1239)ACC>ACT		arylsulfatase family, member I precursor		G		9,4395	11.4+/-27.6	0,9,2193	35.0	38.0	37.0		1239	-9.2	0.0	5	dbSNP_130	37	0,8598		0,0,4299	no	coding-synonymous	ARSI	NM_001012301.2		0,9,6492	AA,AG,GG		0.0,0.2044,0.0692		413/570	149677248	9,12993	2202	4299	6501	SO:0001819	synonymous_variant	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149677248G>A	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.1239C>T	5.37:g.149677248G>A							p.T413T	NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	1828	-			413					A1L3B0|B3KV22|B7XD03	Silent	SNP	ENST00000328668.7	37	c.1239C>T	CCDS34275.1																																																																																				0.647	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		6	54	0	0	0	0.021553	0	6	54				
ATP10B	23120	broad.mit.edu	37	5	159996679	159996679	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr5:159996679G>T	ENST00000327245.5	-	25	4608	c.3762C>A	c.(3760-3762)caC>caA	p.H1254Q		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1254					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCACGACTCCGTGGAAAATGG	0.478																																							uc003lym.1		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(3760-3762)CAC>CAA		ATPase, class V, type 10B							52.0	57.0	55.0					5																	159996679		2053	4210	6263	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:159996679G>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.3762C>A	5.37:g.159996679G>T	ENSP00000313600:p.His1254Gln					ATP10B_uc010jit.1_Missense_Mutation_p.H504Q	p.H1254Q	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		25	4609	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	1254			Helical; (Potential).		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.3762C>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	g	16.42	3.119140	0.56505	.	.	ENSG00000118322	ENST00000327245	T	0.58060	0.36	5.63	-7.04	0.01578	.	0.000000	0.85682	D	0.000000	T	0.41650	0.1168	L	0.60957	1.885	0.37963	D	0.933045	P	0.34864	0.473	B	0.33042	0.157	T	0.34502	-0.9826	9	.	.	.	.	15.5942	0.76566	0.645:0.0:0.355:0.0	.	1254	O94823	AT10B_HUMAN	Q	1254	ENSP00000313600:H1254Q	.	H	-	3	2	ATP10B	159929257	0.016000	0.18221	0.000000	0.03702	0.098000	0.18820	-0.593000	0.05740	-2.351000	0.00617	-2.133000	0.00342	CAC		0.478	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		3	51	1	0	6.4e-05	0.004672	6.85354e-05	3	51				
RNF130	55819	broad.mit.edu	37	5	179393827	179393827	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr5:179393827C>T	ENST00000261947.4	-	7	1527	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	RNF130_ENST00000522208.2_Missense_Mutation_p.E377K|RNF130_ENST00000521389.1_Missense_Mutation_p.E377K|CTC-563A5.2_ENST00000510240.1_RNA	NM_001280801.1	NP_001267730.1			ring finger protein 130											breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGTTGATTTCTCCTGTTCTC	0.587																																					GBM(24;432 554 38471 39699 51728)	GBM(24;432 554 38471 39699 51728)	uc003mll.1		NA																	0				lung(2)|ovary(1)	3						c.(1129-1131)GAA>AAA		ring finger protein 130 precursor							95.0	88.0	90.0					5																	179393827		2203	4300	6503	SO:0001583	missense	55819				apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr5:179393827C>T	AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"""RING-type (C3HC4) zinc fingers"""	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000261947.4:c.1129G>A	5.37:g.179393827C>T	ENSP00000261947:p.Glu377Lys					RNF130_uc003mlm.1_Missense_Mutation_p.E377K	p.E377K	NM_018434	NP_060904	Q86XS8	GOLI_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	1536	-	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	377			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000261947.4	37	c.1129G>A		.	.	.	.	.	.	.	.	.	.	C	23.5	4.424509	0.83667	.	.	ENSG00000113269	ENST00000522208;ENST00000521389;ENST00000261947	T;T;T	0.07021	3.46;3.23;3.36	5.26	5.26	0.73747	.	0.275458	0.35739	N	0.003019	T	0.14743	0.0356	L	0.29908	0.895	0.58432	D	0.999999	P;D	0.63046	0.918;0.992	B;P	0.53360	0.351;0.724	T	0.01045	-1.1470	10	0.66056	D	0.02	.	18.8618	0.92275	0.0:1.0:0.0:0.0	.	394;377	Q59EL1;Q86XS8	.;GOLI_HUMAN	K	377	ENSP00000429509:E377K;ENSP00000430237:E377K;ENSP00000261947:E377K	ENSP00000261947:E377K	E	-	1	0	RNF130	179326433	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.171000	0.71926	2.435000	0.82474	0.491000	0.48974	GAA		0.587	RNF130-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374205.1	NM_018434		6	29	0	0	0	0.021553	0	6	29				
C2	717	broad.mit.edu	37	6	31896516	31896516	+	Silent	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr6:31896516C>T	ENST00000299367.5	+	3	540	c.264C>T	c.(262-264)cgC>cgT	p.R88R	CFB_ENST00000556679.1_Intron|C2_ENST00000418949.2_Silent_p.R88R|C2_ENST00000452323.2_Intron|C2_ENST00000469372.1_Intron|C2_ENST00000442278.2_Intron|CFB_ENST00000477310.1_Silent_p.R88R|CFB_ENST00000456570.1_Intron	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	88	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		CAGCTGTGCGCTGTCCAGCCC	0.542																																							uc003nyf.2		NA																	0				ovary(1)|skin(1)	2						c.(262-264)CGC>CGT		complement component 2 isoform 1 preproprotein							84.0	83.0	83.0					6																	31896516		2203	4300	6503	SO:0001819	synonymous_variant	717				complement activation, classical pathway|innate immune response|proteolysis	extracellular space	serine-type endopeptidase activity	g.chr6:31896516C>T		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.264C>T	6.37:g.31896516C>T						C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_Intron|C2_uc003nye.3_Silent_p.R88R|C2_uc010jtk.2_Intron|C2_uc011doq.1_Silent_p.R59R|C2_uc003nyg.2_Intron|CFB_uc011dor.1_Intron	p.R88R	NM_000063	NP_000054	P06681	CO2_HUMAN		LUAD - Lung adenocarcinoma(999;0.247)	3	528	+		Ovarian(999;0.00965)	88			Sushi 2.		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Silent	SNP	ENST00000299367.5	37	c.264C>T	CCDS4728.1																																																																																				0.542	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			56	65	0	0	0	0.048971	0	56	65				
PTCHD4	442213	broad.mit.edu	37	6	47847177	47847177	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr6:47847177A>T	ENST00000339488.4	-	3	1436	c.1403T>A	c.(1402-1404)gTc>gAc	p.V468D		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	468						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										ATAGAGGATGACAACAAATGG	0.438																																							uc011dwm.1		NA																	0				central_nervous_system(1)	1						c.(1351-1353)GTC>GAC		hypothetical protein LOC442213							108.0	99.0	102.0					6																	47847177		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47847177A>T		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1403T>A	6.37:g.47847177A>T	ENSP00000341914:p.Val468Asp					C6orf138_uc011dwn.1_Missense_Mutation_p.V215D	p.V451D	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			3	1437	-			468			Helical; (Potential).		B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.1352T>A	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	A	16.64	3.179855	0.57800	.	.	ENSG00000244694	ENST00000339488	D	0.86164	-2.08	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.91195	0.7226	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	D	0.92469	0.5984	10	0.87932	D	0	.	15.8383	0.78818	1.0:0.0:0.0:0.0	.	468	Q6ZW05	CF138_HUMAN	D	468	ENSP00000341914:V468D	ENSP00000341914:V468D	V	-	2	0	C6orf138	47955136	1.000000	0.71417	0.997000	0.53966	0.894000	0.52154	8.962000	0.93254	2.156000	0.67533	0.528000	0.53228	GTC		0.438	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		19	31	0	0	0	0.038395	0	19	31				
KCNQ5	56479	broad.mit.edu	37	6	73904239	73904239	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr6:73904239G>T	ENST00000370398.1	+	14	2010	c.1901G>T	c.(1900-1902)gGc>gTc	p.G634V	KCNQ5_ENST00000355635.3_Missense_Mutation_p.G635V|KCNQ5_ENST00000403813.2_Missense_Mutation_p.G625V|KCNQ5_ENST00000342056.2_Missense_Mutation_p.G653V|KCNQ5_ENST00000402622.2_Missense_Mutation_p.G644V|KCNQ5_ENST00000414165.2_Missense_Mutation_p.G524V|KCNQ5_ENST00000355194.4_Missense_Mutation_p.G634V	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	634					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	CTTCGGAAAGGCTCTGCCTCA	0.453																																					GBM(142;1375 1859 14391 23261 44706)	GBM(142;1375 1859 14391 23261 44706)	uc003pgk.2		NA																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(1900-1902)GGC>GTC		potassium voltage-gated channel, KQT-like							82.0	77.0	79.0					6																	73904239		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73904239G>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1901G>T	6.37:g.73904239G>T	ENSP00000359425:p.Gly634Val					KCNQ5_uc011dyh.1_Missense_Mutation_p.G653V|KCNQ5_uc011dyi.1_Missense_Mutation_p.G644V|KCNQ5_uc010kat.2_Missense_Mutation_p.G625V|KCNQ5_uc011dyj.1_Missense_Mutation_p.G524V|KCNQ5_uc011dyk.1_Missense_Mutation_p.G384V	p.G634V	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	14	2248	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	634					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.1901G>T	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081757	0.76528	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99663	-6.33;-6.33;-6.33;-6.33;-6.33;-6.33;-6.33	5.58	5.58	0.84498	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.112171	0.64402	D	0.000011	D	0.99533	0.9833	M	0.65498	2.005	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.991;0.993;0.991;0.996	D;D;D;D;D	0.80764	0.994;0.958;0.969;0.948;0.983	D	0.98945	1.0792	10	0.52906	T	0.07	.	19.5623	0.95376	0.0:0.0:1.0:0.0	.	524;644;653;625;634	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	V	653;653;634;634;644;635;625;524	ENSP00000345055:G653V;ENSP00000347326:G634V;ENSP00000359425:G634V;ENSP00000385501:G644V;ENSP00000347853:G635V;ENSP00000384453:G625V;ENSP00000409861:G524V	ENSP00000345055:G653V	G	+	2	0	KCNQ5	73960960	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.620000	0.88729	0.561000	0.74099	GGC		0.453	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		19	51	1	0	3.99206e-14	0.043863	4.98092e-14	19	51				
GPR63	81491	broad.mit.edu	37	6	97246786	97246786	+	Silent	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr6:97246786C>T	ENST00000229955.3	-	2	1167	c.822G>A	c.(820-822)ttG>ttA	p.L274L	GPR63_ENST00000417980.1_Silent_p.L274L	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		TATGGATCCTCAAGGCATTGT	0.458																																							uc010kcl.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(820-822)TTG>TTA		G protein-coupled receptor 63							96.0	96.0	96.0					6																	97246786		2203	4300	6503	SO:0001819	synonymous_variant	81491					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr6:97246786C>T	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.822G>A	6.37:g.97246786C>T						GPR63_uc003pou.2_Silent_p.L274L	p.L274L	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0912)	3	1300	-		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)	274			Cytoplasmic (Potential).		Q9UJH3	Silent	SNP	ENST00000229955.3	37	c.822G>A	CCDS5036.1																																																																																				0.458	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			34	15	0	0	0	0.092188	0	34	15				
TTLL2	83887	broad.mit.edu	37	6	167753608	167753608	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr6:167753608A>T	ENST00000239587.5	+	3	308	c.220A>T	c.(220-222)Atg>Ttg	p.M74L		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	74					cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)	p.M74V(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ACCTCATTTGATGGCGGAAGA	0.512																																							uc003qvs.1		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(220-222)ATG>TTG		tubulin tyrosine ligase-like family, member 2							55.0	60.0	58.0					6																	167753608		2203	4300	6503	SO:0001583	missense	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167753608A>T	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.220A>T	6.37:g.167753608A>T	ENSP00000239587:p.Met74Leu					TTLL2_uc011egr.1_RNA	p.M74L	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	308	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	74					B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	ENST00000239587.5	37	c.220A>T	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	A	9.953	1.220704	0.22457	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.02085	4.46	3.26	-0.854	0.10705	.	0.858105	0.09892	N	0.742190	T	0.00496	0.0016	L	0.27053	0.805	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.44528	-0.9322	10	0.21540	T	0.41	.	3.4817	0.07605	0.5642:0.2013:0.2345:0.0	.	74	Q9BWV7	TTLL2_HUMAN	L	74;1	ENSP00000239587:M74L	ENSP00000239587:M74L	M	+	1	0	TTLL2	167673598	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	0.602000	0.24134	-0.258000	0.09446	-0.425000	0.05940	ATG		0.512	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		28	9	0	0	0	0.045705	0	28	9				
EIF2AK1	27102	broad.mit.edu	37	7	6078292	6078292	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr7:6078292T>C	ENST00000199389.6	-	10	1276	c.1130A>G	c.(1129-1131)cAc>cGc	p.H377R	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.H253R|EIF2AK1_ENST00000495565.1_5'Flank	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	377	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		CAGCATCAGGTGGTACTGTGC	0.512																																							uc003spp.2		NA																	0				upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4						c.(1129-1131)CAC>CGC		eukaryotic translation initiation factor 2-alpha							110.0	97.0	101.0					7																	6078292		2203	4300	6503	SO:0001583	missense	27102				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity	g.chr7:6078292T>C	BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.1130A>G	7.37:g.6078292T>C	ENSP00000199389:p.His377Arg					EIF2AK1_uc003spq.2_Missense_Mutation_p.H376R|EIF2AK1_uc011jwm.1_Missense_Mutation_p.H253R	p.H377R	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)	10	1276	-		Ovarian(82;0.0423)	377			Protein kinase.		A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Missense_Mutation	SNP	ENST00000199389.6	37	c.1130A>G	CCDS5345.1	.	.	.	.	.	.	.	.	.	.	.	8.599	0.886297	0.17540	.	.	ENSG00000086232	ENST00000199389;ENST00000536084;ENST00000426957	T;T	0.65364	-0.15;1.94	5.57	1.93	0.25924	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.190667	0.56097	N	0.000035	T	0.44829	0.1312	L	0.37697	1.125	0.43179	D	0.994997	B;B;B	0.21309	0.002;0.054;0.005	B;B;B	0.21360	0.004;0.034;0.01	T	0.19386	-1.0307	10	0.08837	T	0.75	-7.3666	9.2033	0.37272	0.0:0.2863:0.0:0.7137	.	253;376;377	B4DIP4;Q9BQI3-2;Q9BQI3	.;.;E2AK1_HUMAN	R	377;253;4	ENSP00000199389:H377R;ENSP00000445784:H253R	ENSP00000199389:H377R	H	-	2	0	EIF2AK1	6044818	1.000000	0.71417	0.998000	0.56505	0.478000	0.33099	0.577000	0.23758	0.093000	0.17368	-0.263000	0.10527	CAC		0.512	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2	NM_014413		38	66	0	0	0	0.080422	0	38	66				
C1GALT1	56913	broad.mit.edu	37	7	7283267	7283267	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr7:7283267G>T	ENST00000223122.3	+	3	1063	c.1001G>T	c.(1000-1002)aGa>aTa	p.R334I	C1GALT1_ENST00000436587.2_Missense_Mutation_p.R334I			Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1	334					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|kidney development (GO:0001822)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity (GO:0016263)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TATTTATACAGATATCAACCT	0.328																																							uc010ktn.2		NA																	0					0						c.(1000-1002)AGA>ATA		core 1 synthase,							141.0	131.0	134.0					7																	7283267		2203	4300	6503	SO:0001583	missense	56913				angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding	g.chr7:7283267G>T	AF155582	CCDS5355.1	7p21.3	2014-06-24	2014-06-24		ENSG00000106392	ENSG00000106392	2.4.1.122	"""Beta 3-glycosyltransferases"""	24337	protein-coding gene	gene with protein product	"""core 1 beta3-Gal-T"""	610555				10580128, 11677243	Standard	NM_020156		Approved	C1GALT, T-synthase	uc003srb.3	Q9NS00	OTTHUMG00000151912	ENST00000223122.3:c.1001G>T	7.37:g.7283267G>T	ENSP00000223122:p.Arg334Ile					C1GALT1_uc003sra.2_Missense_Mutation_p.R334I|uc003srb.1_5'Flank	p.R334I	NM_020156	NP_064541	Q9NS00	C1GLT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	4	1224	+			334			Lumenal (Potential).		Q96QH4|Q9BTU1	Missense_Mutation	SNP	ENST00000223122.3	37	c.1001G>T	CCDS5355.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677790	0.68042	.	.	ENSG00000106392	ENST00000436587;ENST00000223122	T;T	0.57595	0.39;0.39	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.57917	0.2086	M	0.71036	2.16	0.80722	D	1	B	0.28605	0.217	B	0.34385	0.181	T	0.57260	-0.7842	10	0.34782	T	0.22	-24.8744	18.9155	0.92505	0.0:0.0:1.0:0.0	.	334	Q9NS00	C1GLT_HUMAN	I	334	ENSP00000389176:R334I;ENSP00000223122:R334I	ENSP00000223122:R334I	R	+	2	0	C1GALT1	7249792	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.610000	0.98337	2.636000	0.89361	0.655000	0.94253	AGA		0.328	C1GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324379.2	NM_020156		34	79	1	0	2.05212e-20	0.080422	2.70959e-20	34	79				
ZNF479	90827	broad.mit.edu	37	7	57187575	57187575	+	Missense_Mutation	SNP	G	G	T	rs371032084		TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr7:57187575G>T	ENST00000331162.4	-	5	1817	c.1547C>A	c.(1546-1548)aCt>aAt	p.T516N		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	516					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTTCTCTCCAGTGTGAATTAT	0.343																																							uc010kzo.2		NA																	0				ovary(3)|skin(1)	4						c.(1546-1548)ACT>AAT		zinc finger protein 479							31.0	32.0	32.0					7																	57187575		2006	4198	6204	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57187575G>T	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1547C>A	7.37:g.57187575G>T	ENSP00000333776:p.Thr516Asn						p.T516N	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1818	-			516						Missense_Mutation	SNP	ENST00000331162.4	37	c.1547C>A	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	-	14.66	2.602722	0.46423	.	.	ENSG00000185177	ENST00000331162	T	0.01369	4.97	0.888	0.888	0.19206	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05364	0.0142	M	0.78456	2.415	0.26298	N	0.978022	D	0.61697	0.99	P	0.59221	0.854	T	0.19943	-1.0290	9	0.72032	D	0.01	.	7.306	0.26447	0.0:0.0:1.0:0.0	.	516	Q96JC4	ZN479_HUMAN	N	516	ENSP00000333776:T516N	ENSP00000333776:T516N	T	-	2	0	ZNF479	57191517	0.974000	0.33945	0.334000	0.25495	0.312000	0.27988	3.612000	0.54142	0.390000	0.25115	0.391000	0.25812	ACT		0.343	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		10	20	1	0	3.86212e-05	0.069234	4.20199e-05	10	20				
CHRM2	1129	broad.mit.edu	37	7	136700178	136700178	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr7:136700178G>C	ENST00000445907.2	+	3	1094	c.566G>C	c.(565-567)gGt>gCt	p.G189A	hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.G189A|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.G189A|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.G189A|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.G189A|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.G189A	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	189					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GTCACCTTTGGTACGGCTATT	0.478																																							uc003vtf.1		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(565-567)GGT>GCT		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						91.0	83.0	86.0					7																	136700178		2203	4300	6503	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700178G>C		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.566G>C	7.37:g.136700178G>C	ENSP00000399745:p.Gly189Ala					CHRM2_uc003vtg.1_Missense_Mutation_p.G189A|CHRM2_uc003vtj.1_Missense_Mutation_p.G189A|CHRM2_uc003vtk.1_Missense_Mutation_p.G189A|CHRM2_uc003vtl.1_Missense_Mutation_p.G189A|CHRM2_uc003vtm.1_Missense_Mutation_p.G189A|CHRM2_uc003vti.1_Missense_Mutation_p.G189A|CHRM2_uc003vto.1_Missense_Mutation_p.G189A|CHRM2_uc003vtn.1_Missense_Mutation_p.G189A|uc003vtp.1_Intron	p.G189A	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	1189	+			189			Helical; Name=5; (By similarity).		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.566G>C	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681548	0.68042	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31	5.51	5.51	0.81932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.45856	0.1363	L	0.51914	1.62	0.80722	D	1	P	0.49635	0.926	P	0.51777	0.679	T	0.12630	-1.0540	10	0.18276	T	0.48	-0.0852	19.4315	0.94772	0.0:0.0:1.0:0.0	.	189	P08172	ACM2_HUMAN	A	189	ENSP00000399745:G189A;ENSP00000415386:G189A;ENSP00000319984:G189A;ENSP00000380733:G189A;ENSP00000384937:G189A;ENSP00000384401:G189A	ENSP00000319984:G189A	G	+	2	0	CHRM2	136350718	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	9.807000	0.99171	2.600000	0.87896	0.655000	0.94253	GGT		0.478	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			7	94	0	0	0	0.038147	0	7	94				
GIMAP4	55303	broad.mit.edu	37	7	150269579	150269579	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr7:150269579T>C	ENST00000255945.2	+	3	596	c.421T>C	c.(421-423)Ttt>Ctt	p.F141L	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.F155L	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	141	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGAAAATGTTTGGAGAGAG	0.483																																							uc003whl.2		NA																	0				ovary(1)	1						c.(421-423)TTT>CTT		GTPase, IMAP family member 4							80.0	77.0	78.0					7																	150269579		2203	4300	6503	SO:0001583	missense	55303						GTP binding	g.chr7:150269579T>C	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"""GTPases, IMAP"""	21872	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 1"""	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.421T>C	7.37:g.150269579T>C	ENSP00000255945:p.Phe141Leu					GIMAP4_uc011kuu.1_Missense_Mutation_p.F2L|GIMAP4_uc011kuv.1_Missense_Mutation_p.F155L	p.F141L	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	503	+			141						Missense_Mutation	SNP	ENST00000255945.2	37	c.421T>C	CCDS5904.1	.	.	.	.	.	.	.	.	.	.	T	16.02	3.003955	0.54254	.	.	ENSG00000133574	ENST00000255945;ENST00000461940;ENST00000466938	T;T	0.25749	1.78;1.78	4.72	4.72	0.59763	AIG1 (1);	0.056471	0.64402	D	0.000001	T	0.49541	0.1563	M	0.77406	2.37	0.48632	D	0.999681	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.52953	-0.8506	10	0.66056	D	0.02	.	10.5079	0.44845	0.0:0.0:0.0:1.0	.	155;141	G5E9W9;Q9NUV9	.;GIMA4_HUMAN	L	141;155;73	ENSP00000255945:F141L;ENSP00000419545:F155L	ENSP00000255945:F141L	F	+	1	0	GIMAP4	149900512	1.000000	0.71417	0.994000	0.49952	0.020000	0.10135	4.091000	0.57700	2.001000	0.58596	0.533000	0.62120	TTT		0.483	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326		27	41	0	0	0	0.041601	0	27	41				
CSMD1	64478	broad.mit.edu	37	8	2949067	2949067	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr8:2949067C>G	ENST00000520002.1	-	49	7814	c.7259G>C	c.(7258-7260)aGt>aCt	p.S2420T	CSMD1_ENST00000602723.1_Missense_Mutation_p.S2420T|CSMD1_ENST00000602557.1_Missense_Mutation_p.S2420T|CSMD1_ENST00000400186.3_Missense_Mutation_p.S2420T|CSMD1_ENST00000537824.1_Missense_Mutation_p.S2419T|CSMD1_ENST00000542608.1_Missense_Mutation_p.S2419T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2420	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCTTTCTTACTGGTGGCATG	0.348																																							uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(7258-7260)AGT>ACT		CUB and Sushi multiple domains 1 precursor							114.0	107.0	109.0					8																	2949067		1839	4082	5921	SO:0001583	missense	64478					integral to membrane		g.chr8:2949067C>G			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7259G>C	8.37:g.2949067C>G	ENSP00000430733:p.Ser2420Thr					CSMD1_uc011kwj.1_Missense_Mutation_p.S1749T|CSMD1_uc010lrg.2_Missense_Mutation_p.S488T	p.S2420T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	48	7649	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2420			CUB 14.|Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.7259G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.67|12.67	2.006373|2.006373	0.35415|0.35415	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.18502	.|2.21;2.21;2.21;2.21	5.78|5.78	3.93|3.93	0.45458|0.45458	.|CUB (5);	.|0.111078	.|0.64402	.|D	.|0.000012	T|T	0.11623|0.11623	0.0283|0.0283	N|N	0.13043|0.13043	0.29|0.29	0.80722|0.80722	D|D	1|1	.|B;B;P	.|0.36048	.|0.006;0.278;0.534	.|B;B;B	.|0.38985	.|0.011;0.217;0.287	T|T	0.15752|0.15752	-1.0426|-1.0426	5|10	.|0.44086	.|T	.|0.13	.|.	10.8713|10.8713	0.46885|0.46885	0.0:0.7977:0.1321:0.0702|0.0:0.7977:0.1321:0.0702	.|.	.|2420;2420;2419	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	H|T	1836|2420;2420;2281;2419;2419	.|ENSP00000383047:S2420T;ENSP00000430733:S2420T;ENSP00000441462:S2419T;ENSP00000446243:S2419T	.|ENSP00000320445:S2281T	Q|S	-|-	3|2	2|0	CSMD1|CSMD1	2936474|2936474	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.558000|0.558000	0.35554|0.35554	0.781000|0.781000	0.26774|0.26774	1.382000|1.382000	0.46385|0.46385	0.542000|0.542000	0.68232|0.68232	CAG|AGT		0.348	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		18	39	0	0	0	0.0333	0	18	39				
CSMD1	64478	broad.mit.edu	37	8	4851912	4851912	+	Silent	SNP	C	C	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr8:4851912C>A	ENST00000520002.1	-	1	582	c.27G>T	c.(25-27)tcG>tcT	p.S9S	CSMD1_ENST00000602723.1_Silent_p.S9S|CSMD1_ENST00000602557.1_Silent_p.S9S|CSMD1_ENST00000400186.3_Silent_p.S9S|CSMD1_ENST00000537824.1_Silent_p.S9S|CSMD1_ENST00000542608.1_Silent_p.S9S|CSMD1_ENST00000539096.1_Silent_p.S9S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	9						integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCAGGAGCAGCGACTGGAATC	0.632																																							uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(25-27)TCG>TCT		CUB and Sushi multiple domains 1 precursor							57.0	69.0	65.0					8																	4851912		2196	4293	6489	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:4851912C>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.27G>T	8.37:g.4851912C>A							p.S9S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	1	417	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	9					Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.27G>T																																																																																					0.632	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		13	33	1	0	3.52763e-06	0.0333	3.93244e-06	13	33				
EYA1	2138	broad.mit.edu	37	8	72184036	72184036	+	Missense_Mutation	SNP	C	C	T	rs369822742		TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr8:72184036C>T	ENST00000340726.3	-	10	1562	c.923G>A	c.(922-924)cGa>cAa	p.R308Q	EYA1_ENST00000388741.2_Missense_Mutation_p.R274Q|EYA1_ENST00000419131.1_Missense_Mutation_p.R303Q|EYA1_ENST00000303824.7_Missense_Mutation_p.R302Q|EYA1_ENST00000388742.4_Missense_Mutation_p.R308Q|EYA1_ENST00000388743.2_Missense_Mutation_p.R307Q|EYA1_ENST00000388740.3_Missense_Mutation_p.R275Q	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	308					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			ATTGTTTCTTCGGCCCCGTCC	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		16111	0.0		0.0	False		,,,				2504	0.001						uc003xys.3		NA																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5						c.(922-924)CGA>CAA		eyes absent 1 isoform b		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	216.0	199.0	205.0		923,923,908,824	5.7	1.0	8		205	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	EYA1	NM_000503.4,NM_172058.2,NM_172059.2,NM_172060.2	43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	308/593,308/593,303/558,275/560	72184036	1,13005	2203	4300	6503	SO:0001583	missense	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72184036C>T	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.923G>A	8.37:g.72184036C>T	ENSP00000342626:p.Arg308Gln					EYA1_uc003xyr.3_Missense_Mutation_p.R303Q|EYA1_uc003xyt.3_Missense_Mutation_p.R275Q|EYA1_uc010lzf.2_Missense_Mutation_p.R235Q|EYA1_uc003xyu.2_Missense_Mutation_p.R308Q|EYA1_uc011lfe.1_Missense_Mutation_p.R302Q|EYA1_uc003xyv.2_Missense_Mutation_p.R186Q	p.R308Q	NM_172058	NP_742055	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		9	1210	-	Breast(64;0.046)		308					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.923G>A	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	C	36	5.956796	0.97145	0.0	1.16E-4	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.91133	0.7208	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.99;0.99;0.999;0.997	D;P;P;D;P	0.74674	0.982;0.812;0.812;0.984;0.812	D	0.90788	0.4684	10	0.54805	T	0.06	-13.0389	19.8344	0.96650	0.0:1.0:0.0:0.0	.	302;235;275;308;303	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	Q	308;308;276;275;302;274;307;303	ENSP00000373394:R308Q;ENSP00000342626:R308Q;ENSP00000373392:R275Q;ENSP00000303221:R302Q;ENSP00000373393:R274Q;ENSP00000373395:R307Q;ENSP00000410176:R303Q	ENSP00000303221:R302Q	R	-	2	0	EYA1	72346590	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.440000	0.80464	2.696000	0.92011	0.561000	0.74099	CGA		0.473	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		53	158	0	0	0	0.048971	0	53	158				
TRPA1	8989	broad.mit.edu	37	8	72945999	72945999	+	Silent	SNP	G	G	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr8:72945999G>T	ENST00000262209.4	-	23	2955	c.2748C>A	c.(2746-2748)atC>atA	p.I916I	TRPA1_ENST00000519720.1_5'Flank|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	916					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CTCGATAATTGATATCTCCTA	0.413																																							uc003xza.2		NA																	0				ovary(4)|lung(1)|kidney(1)	6						c.(2746-2748)ATC>ATA		ankyrin-like protein 1	Menthol(DB00825)						109.0	100.0	103.0					8																	72945999		2203	4300	6503	SO:0001819	synonymous_variant	8989					integral to plasma membrane		g.chr8:72945999G>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2748C>A	8.37:g.72945999G>T						uc011lff.1_Intron|uc003xyy.2_Intron	p.I916I	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		23	2923	-			916			Extracellular (Potential).		A6NIN6	Silent	SNP	ENST00000262209.4	37	c.2748C>A	CCDS34908.1																																																																																				0.413	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		10	71	1	0	7.48243e-07	0.058154	8.41e-07	10	71				
CA3	761	broad.mit.edu	37	8	86357439	86357439	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr8:86357439A>C	ENST00000285381.2	+	5	582	c.499A>C	c.(499-501)Aag>Cag	p.K167Q	RP11-317J10.2_ENST00000521761.1_RNA|RP11-317J10.2_ENST00000517697.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	167					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|response to ethanol (GO:0045471)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|nickel cation binding (GO:0016151)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23					Acetazolamide(DB00819)|Zonisamide(DB00909)	GGACAAGATTAAGACAAAGGT	0.313																																							uc003ydj.2		NA																	0					0						c.(499-501)AAG>CAG		carbonic anhydrase III							94.0	92.0	93.0					8																	86357439		2203	4300	6503	SO:0001583	missense	761				one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	g.chr8:86357439A>C	AJ006473	CCDS6238.1	8q21.2	2012-10-02					4.2.1.1	"""Carbonic anhydrases"""	1374	protein-coding gene	gene with protein product		114750				6221502	Standard	NM_005181		Approved	Car3, CAIII	uc003ydj.3	P07451		ENST00000285381.2:c.499A>C	8.37:g.86357439A>C	ENSP00000285381:p.Lys167Gln					CA3_uc011lfv.1_RNA	p.K167Q	NM_005181	NP_005172	P07451	CAH3_HUMAN			5	582	+			167					B2R867|B3KUC8|O60842	Missense_Mutation	SNP	ENST00000285381.2	37	c.499A>C	CCDS6238.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.918106	0.73098	.	.	ENSG00000164879	ENST00000285381;ENST00000426378	T	0.69561	-0.41	6.07	6.07	0.98685	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.126724	0.64402	D	0.000001	T	0.74749	0.3757	L	0.45352	1.415	0.52501	D	0.999952	D	0.69078	0.997	D	0.72338	0.977	T	0.74518	-0.3639	10	0.44086	T	0.13	-26.681	13.0325	0.58851	1.0:0.0:0.0:0.0	.	167	P07451	CAH3_HUMAN	Q	167;151	ENSP00000285381:K167Q	ENSP00000285381:K167Q	K	+	1	0	CA3	86544691	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	3.031000	0.49728	2.326000	0.78906	0.533000	0.62120	AAG		0.313	CA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381090.1	NM_005181		23	22	0	0	0	0.099896	0	23	22				
CNBD1	168975	broad.mit.edu	37	8	88249280	88249280	+	Missense_Mutation	SNP	G	G	T	rs370066698		TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr8:88249280G>T	ENST00000518476.1	+	6	762	c.711G>T	c.(709-711)tgG>tgT	p.W237C	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	237										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GCTTCATTTGGAGTGAAGAAT	0.393																																							uc003ydy.2		NA																	0				ovary(3)	3						c.(709-711)TGG>TGT		cyclic nucleotide binding domain containing 1							102.0	94.0	96.0					8																	88249280		1858	4101	5959	SO:0001583	missense	168975							g.chr8:88249280G>T	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.711G>T	8.37:g.88249280G>T	ENSP00000430073:p.Trp237Cys						p.W237C	NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN			6	759	+			237						Missense_Mutation	SNP	ENST00000518476.1	37	c.711G>T	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	G	6.136	0.393363	0.11638	.	.	ENSG00000176571	ENST00000518476	T	0.17691	2.26	4.29	-3.14	0.05250	Cyclic nucleotide-binding-like (1);	2.446060	0.01430	N	0.014719	T	0.08133	0.0203	N	0.08118	0	0.09310	N	1	B	0.27679	0.185	B	0.13407	0.009	T	0.21109	-1.0255	10	0.38643	T	0.18	0.0314	5.6564	0.17644	0.0:0.2187:0.3264:0.4549	.	237	Q8NA66	CNBD1_HUMAN	C	237	ENSP00000430073:W237C	ENSP00000430073:W237C	W	+	3	0	CNBD1	88318396	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.276000	0.08514	-0.672000	0.05266	-0.169000	0.13324	TGG		0.393	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		18	37	1	0	1.56452e-12	0.043863	1.89978e-12	18	37				
SNX31	169166	broad.mit.edu	37	8	101601110	101601110	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr8:101601110A>G	ENST00000311812.2	-	11	1226	c.1076T>C	c.(1075-1077)gTt>gCt	p.V359A	SNX31_ENST00000428383.2_Missense_Mutation_p.V260A|SNX31_ENST00000519521.1_5'UTR	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	359					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GGTGTAAATAACAAACCACTG	0.488																																							uc003yjr.2		NA																	0					0						c.(1075-1077)GTT>GCT		sorting nexin 31							110.0	98.0	102.0					8																	101601110		2203	4300	6503	SO:0001583	missense	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101601110A>G		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.1076T>C	8.37:g.101601110A>G	ENSP00000312368:p.Val359Ala					SNX31_uc011lha.1_Missense_Mutation_p.V154A|SNX31_uc011lhb.1_Missense_Mutation_p.V260A	p.V359A	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		11	1227	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		359					C9J6L9|Q8N0U9	Missense_Mutation	SNP	ENST00000311812.2	37	c.1076T>C	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.687651	0.48097	.	.	ENSG00000174226	ENST00000311812;ENST00000428383	T;T	0.22539	2.3;1.95	5.78	4.65	0.58169	.	0.217984	0.31909	N	0.006873	T	0.16896	0.0406	L	0.51422	1.61	0.29908	N	0.8238	B;B	0.34372	0.4;0.451	B;B	0.30179	0.085;0.112	T	0.17289	-1.0374	10	0.62326	D	0.03	-17.3646	6.28	0.21001	0.7981:0.0:0.2019:0.0	.	260;359	Q8N9S9-2;Q8N9S9	.;SNX31_HUMAN	A	359;260	ENSP00000312368:V359A;ENSP00000405024:V260A	ENSP00000312368:V359A	V	-	2	0	SNX31	101670286	0.948000	0.32251	0.991000	0.47740	0.995000	0.86356	2.751000	0.47508	2.195000	0.70347	0.528000	0.53228	GTT		0.488	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		14	78	0	0	0	0.028581	0	14	78				
ADAMTSL1	92949	broad.mit.edu	37	9	18504846	18504846	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr9:18504846C>A	ENST00000380548.4	+	2	422	c.83C>A	c.(82-84)tCc>tAc	p.S28Y	ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.S28Y|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.S28Y|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.S28Y|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.S28Y|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.S28Y	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	28						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ACCGCACGCTCCGAGGAGGAC	0.582																																							uc003zne.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5						c.(82-84)TCC>TAC		ADAMTS-like 1 isoform 4 precursor							67.0	72.0	70.0					9																	18504846		2203	4300	6503	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18504846C>A	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.83C>A	9.37:g.18504846C>A	ENSP00000369921:p.Ser28Tyr					ADAMTSL1_uc003znb.2_Missense_Mutation_p.S28Y|ADAMTSL1_uc003znc.3_Missense_Mutation_p.S28Y	p.S28Y	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	2	210	+			28					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.83C>A	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.784646	0.90282	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000431052;ENST00000380570;ENST00000380566;ENST00000276935	T;T;T;T;T;T	0.67865	-0.13;-0.08;-0.23;-0.29;-0.14;-0.1	5.4	5.4	0.78164	.	.	.	.	.	T	0.75635	0.3876	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	T	0.76631	-0.2888	9	0.52906	T	0.07	.	19.181	0.93623	0.0:1.0:0.0:0.0	.	28;28	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	Y	28	ENSP00000369921:S28Y;ENSP00000327887:S28Y;ENSP00000401157:S28Y;ENSP00000369944:S28Y;ENSP00000369940:S28Y;ENSP00000276935:S28Y	ENSP00000276935:S28Y	S	+	2	0	ADAMTSL1	18494846	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	7.324000	0.79115	2.531000	0.85337	0.561000	0.74099	TCC		0.582	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			52	22	1	0	3.56336e-21	0.048971	4.79819e-21	52	22				
TRPM3	80036	broad.mit.edu	37	9	73213399	73213399	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr9:73213399C>T	ENST00000377111.2	-	20	3191	c.2948G>A	c.(2947-2949)cGt>cAt	p.R983H	TRPM3_ENST00000357533.2_Missense_Mutation_p.R987H|TRPM3_ENST00000396285.1_Missense_Mutation_p.R830H|TRPM3_ENST00000377106.1_Missense_Mutation_p.R855H|TRPM3_ENST00000377110.3_Missense_Mutation_p.R983H|TRPM3_ENST00000360823.2_Missense_Mutation_p.R845H|TRPM3_ENST00000396292.4_Missense_Mutation_p.R855H|TRPM3_ENST00000377105.1_Missense_Mutation_p.R842H|TRPM3_ENST00000408909.2_Missense_Mutation_p.R842H|TRPM3_ENST00000358082.3_Missense_Mutation_p.R845H|TRPM3_ENST00000396280.5_Missense_Mutation_p.R832H|TRPM3_ENST00000423814.3_Missense_Mutation_p.R1010H	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1008					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTCTAGGAGACGGATATACCA	0.448																																							uc004aid.2		NA																	0				ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(2947-2949)CGT>CAT		transient receptor potential cation channel,							132.0	129.0	130.0					9																	73213399		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73213399C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2948G>A	9.37:g.73213399C>T	ENSP00000366315:p.Arg983His					TRPM3_uc004ahu.2_Missense_Mutation_p.R813H|TRPM3_uc004ahv.2_Missense_Mutation_p.R785H|TRPM3_uc004ahw.2_Missense_Mutation_p.R855H|TRPM3_uc004ahx.2_Missense_Mutation_p.R842H|TRPM3_uc004ahy.2_Missense_Mutation_p.R845H|TRPM3_uc004ahz.2_Missense_Mutation_p.R832H|TRPM3_uc004aia.2_Missense_Mutation_p.R830H|TRPM3_uc004aib.2_Missense_Mutation_p.R820H|TRPM3_uc004aic.2_Missense_Mutation_p.R983H	p.R983H	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			20	3192	-			1008			Helical; (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.2948G>A		.	.	.	.	.	.	.	.	.	.	C	24.1	4.497307	0.85069	.	.	ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	D;D;D;D;D;D;D;D;D;D;D	0.99591	-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24	4.87	3.97	0.46021	.	0.000000	0.85682	D	0.000000	D	0.99569	0.9845	M	0.85859	2.78	0.49798	D	0.999822	D;D;D;D;P;B;D;P	0.89917	1.0;0.993;1.0;0.998;0.75;0.152;0.999;0.862	D;P;D;D;B;B;P;P	0.91635	0.997;0.809;0.999;0.949;0.386;0.056;0.837;0.581	D	0.98216	1.0475	10	0.66056	D	0.02	-7.615	13.3904	0.60821	0.0:0.923:0.0:0.077	.	983;983;973;987;845;842;955;830	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.;.	H	983;983;855;845;842;987;842;830;855;845;1010	ENSP00000366315:R983H;ENSP00000366314:R983H;ENSP00000366310:R855H;ENSP00000354066:R845H;ENSP00000366309:R842H;ENSP00000350140:R987H;ENSP00000386127:R842H;ENSP00000379581:R830H;ENSP00000379587:R855H;ENSP00000350791:R845H;ENSP00000389542:R1010H	ENSP00000350140:R987H	R	-	2	0	TRPM3	72403219	1.000000	0.71417	0.992000	0.48379	0.962000	0.63368	7.810000	0.86072	1.178000	0.42870	0.573000	0.79308	CGT		0.448	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		65	57	0	0	0	0.048971	0	65	57				
CEP78	84131	broad.mit.edu	37	9	80869844	80869844	+	Silent	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr9:80869844G>A	ENST00000424347.2	+	11	1633	c.1344G>A	c.(1342-1344)gtG>gtA	p.V448V	CEP78_ENST00000376597.4_Silent_p.V449V|CEP78_ENST00000277082.5_Silent_p.V448V|CEP78_ENST00000415759.2_Silent_p.V449V|CEP78_ENST00000376598.2_Silent_p.V448V|CEP78_ENST00000487108.2_3'UTR			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	448					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						TTCATGAAGTGCCTGAGAAAA	0.373																																							uc004akx.2		NA																	0				ovary(1)	1						c.(1342-1344)GTG>GTA		centrosomal protein 78kDa isoform b							90.0	85.0	86.0					9																	80869844		1848	4085	5933	SO:0001819	synonymous_variant	84131				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr9:80869844G>A	BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 81"""	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.1344G>A	9.37:g.80869844G>A						CEP78_uc004aky.3_Silent_p.V449V|CEP78_uc010mpp.2_Silent_p.V449V	p.V448V	NM_032171	NP_115547	Q5JTW2	CEP78_HUMAN			11	1620	+			448					A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Silent	SNP	ENST00000424347.2	37	c.1344G>A																																																																																					0.373	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	XM_095991		14	15	0	0	0	0.020292	0	14	15				
FOXE1	2304	broad.mit.edu	37	9	100617228	100617228	+	Silent	SNP	G	G	A			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr9:100617228G>A	ENST00000375123.3	+	1	1693	c.1032G>A	c.(1030-1032)ggG>ggA	p.G344G		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	344					anatomical structure morphogenesis (GO:0009653)|cell migration (GO:0016477)|embryonic organ morphogenesis (GO:0048562)|hair follicle morphogenesis (GO:0031069)|hard palate development (GO:0060022)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pharynx development (GO:0060465)|positive regulation of transcription, DNA-templated (GO:0045893)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				ACCCTGGCGGGCAGCTCGGAG	0.692																																							uc004axu.2		NA																	0					0						c.(1030-1032)GGG>GGA		forkhead box E1							13.0	16.0	15.0					9																	100617228		2171	4265	6436	SO:0001819	synonymous_variant	2304				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:100617228G>A	U89995	CCDS35078.1	9q22	2008-09-05			ENSG00000178919	ENSG00000178919		"""Forkhead boxes"""	3806	protein-coding gene	gene with protein product		602617	"""forkhead box E2"""	FKHL15, TITF2, FOXE2		9169137, 9697705	Standard	NM_004473		Approved	TTF-2, HFKH4	uc004axu.3	O00358	OTTHUMG00000020333	ENST00000375123.3:c.1032G>A	9.37:g.100617228G>A							p.G344G	NM_004473	NP_004464	O00358	FOXE1_HUMAN			1	1692	+		Acute lymphoblastic leukemia(62;0.158)	344					O75765|Q5T109|Q99526	Silent	SNP	ENST00000375123.3	37	c.1032G>A	CCDS35078.1																																																																																				0.692	FOXE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053341.1			3	21	0	0	0	0.009096	0	3	21				
DMD	1756	broad.mit.edu	37	X	32466631	32466631	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chrX:32466631A>G	ENST00000357033.4	-	27	3934	c.3728T>C	c.(3727-3729)cTa>cCa	p.L1243P	DMD_ENST00000378677.2_Missense_Mutation_p.L1239P	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1243					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTTGGTGGTTAGAGTTTCAAG	0.418																																							uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(3727-3729)CTA>CCA		dystrophin Dp427m isoform							203.0	158.0	173.0					X																	32466631		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32466631A>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.3728T>C	X.37:g.32466631A>G	ENSP00000354923:p.Leu1243Pro					DMD_uc004dcz.2_Missense_Mutation_p.L1120P|DMD_uc004dcy.1_Missense_Mutation_p.L1239P|DMD_uc004ddb.1_Missense_Mutation_p.L1235P|DMD_uc010ngo.1_Intron	p.L1243P	NM_004006	NP_003997	P11532	DMD_HUMAN			27	3972	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1243			Spectrin 8.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.3728T>C	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.825347	0.50739	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.64803	-0.12;-0.12	4.94	4.94	0.65067	.	0.000000	0.28606	U	0.014748	T	0.68970	0.3059	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.997	D;D;D	0.77557	0.948;0.99;0.969	T	0.72975	-0.4128	10	0.87932	D	0	.	13.9383	0.64039	1.0:0.0:0.0:0.0	.	1235;1243;1239	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	P	1235;1239;1243;1243;1120	ENSP00000367948:L1239P;ENSP00000354923:L1243P	ENSP00000354923:L1243P	L	-	2	0	DMD	32376552	1.000000	0.71417	0.306000	0.25113	0.326000	0.28443	8.634000	0.91002	1.736000	0.51660	0.441000	0.28932	CTA		0.418	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		13	25	0	0	0	0.105934	0	13	25				
RBM10	8241	broad.mit.edu	37	X	47045017	47045017	+	Silent	SNP	A	A	G			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chrX:47045017A>G	ENST00000377604.3	+	20	3085	c.2343A>G	c.(2341-2343)tcA>tcG	p.S781S	RBM10_ENST00000329236.7_Silent_p.S703S|RBM10_ENST00000345781.6_Silent_p.S704S	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	781					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						AGCAGCTCTCAGGGCTCCACA	0.622																																					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.(2341-2343)TCA>TCG		RNA binding motif protein 10 isoform 1							48.0	36.0	40.0					X																	47045017		2201	4299	6500	SO:0001819	synonymous_variant	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47045017A>G	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.2343A>G	X.37:g.47045017A>G						RBM10_uc004dhg.2_Silent_p.S703S|RBM10_uc004dhh.2_Silent_p.S780S|RBM10_uc010nhq.2_Silent_p.S704S|RBM10_uc004dhi.2_Silent_p.S846S	p.S781S	NM_005676	NP_005667	P98175	RBM10_HUMAN			20	2722	+			781			C2H2-type; atypical.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Silent	SNP	ENST00000377604.3	37	c.2343A>G	CCDS14274.1																																																																																				0.622	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		4	1	0	0	0	0.014758	0	4	1				
RHOXF2B	727940	broad.mit.edu	37	X	119210983	119210984	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chrX:119210983_119210984TG>CT	ENST00000371402.2	-	2	538_539	c.349_350CA>AG	c.(349-351)CAg>AGg	p.Q117R	RP4-755D9.1_ENST00000553843.1_RNA	NM_001099685.1	NP_001093155.1	P0C7M4	RHF2B_HUMAN	Rhox homeobox family, member 2B	117					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|skin(3)|upper_aerodigestive_tract(1)	7						GCGCGAATACTGCTGCCCAGGT	0.663																																							uc004esj.3		NA																	0					0						c.(349-351)CAG>AGG		Rhox homeobox family, member 2																																				SO:0001583	missense	727940					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:119210983_119210984TG>CT		CCDS43985.1	Xq24	2011-06-20			ENSG00000203989	ENSG00000203989		"""Homeoboxes / PRD class"""	33519	protein-coding gene	gene with protein product							Standard	NM_001099685		Approved		uc004esj.4	P0C7M4	OTTHUMG00000022288	ENST00000371402.2:c.349_350delinsCT	X.37:g.119210983_119210984delinsCT	ENSP00000360455:p.Gln117Arg					uc004esi.1_Intron	p.Q117R	NM_032498	NP_115887	P0C7M4	RHF2B_HUMAN			2	539_540	-			117						Missense_Mutation	DNP	ENST00000371402.2	37	c.349_350CA>AG	CCDS43985.1																																																																																				0.663	RHOXF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058081.2	NM_001099685		14	2	0	0	0	0.004672	0	14	2				
MAGEA11	4110	broad.mit.edu	37	X	148797795	148797795	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chrX:148797795T>C	ENST00000355220.5	+	5	751	c.649T>C	c.(649-651)Ttt>Ctt	p.F217L	MAGEA11_ENST00000333104.4_Missense_Mutation_p.F188L	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	217						cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CCCTGAGTCCTTTTCCCAAGA	0.488																																							uc004fdq.2		NA																	0				ovary(2)	2						c.(649-651)TTT>CTT		melanoma antigen family A, 11 isoform a							113.0	110.0	111.0					X																	148797795		2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148797795T>C		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.649T>C	X.37:g.148797795T>C	ENSP00000347358:p.Phe217Leu					HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.F188L	p.F217L	NM_005366	NP_005357	P43364	MAGAB_HUMAN			5	751	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		217					Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.649T>C	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	0.005	-2.217777	0.00286	.	.	ENSG00000185247	ENST00000412632;ENST00000333104;ENST00000355220	T;T;T	0.01647	4.71;5.01;4.99	0.976	-1.95	0.07548	.	.	.	.	.	T	0.00524	0.0017	N	0.00985	-1.075	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.42464	-0.9450	9	0.02654	T	1	.	1.8395	0.03147	0.3082:0.0:0.3094:0.3823	.	188;217	G5E962;P43364	.;MAGAB_HUMAN	L	188;188;217	ENSP00000391496:F188L;ENSP00000328177:F188L;ENSP00000347358:F217L	ENSP00000328177:F188L	F	+	1	0	MAGEA11	148576610	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.712000	0.05013	-1.045000	0.03250	-0.720000	0.03607	TTT		0.488	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		3	118	0	0	0	0.014758	0	3	118				
BCL3	602	broad.mit.edu	37	19	45262737	45262737	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr19:45262737delC	ENST00000164227.5	+	9	1474	c.1230delC	c.(1228-1230)gacfs	p.D410fs		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	410	Pro/Ser-rich.				antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CCCCCAGGGACCCCCCTGGAT	0.642			T	IGH@	CLL																																		uc010xxe.1		NA		Dom	yes		19	19q13	602	T	B-cell CLL/lymphoma 3			L	IGH@		CLL 		0				ovary(1)|lung(1)	2						c.(1228-1230)GACfs		B-cell CLL/lymphoma 3							185.0	200.0	195.0					19																	45262737		2203	4300	6503	SO:0001589	frameshift_variant	602				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding	g.chr19:45262737delC	M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"""Ankyrin repeat domain containing"""	998	protein-coding gene	gene with protein product	"""B-cell lymphoma 3-encoded protein"", ""B-cell leukemia/lymphoma 3"", ""chronic lymphatic leukemia protein"""	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.1230delC	19.37:g.45262737delC	ENSP00000164227:p.Asp410fs						p.D410fs	NM_005178	NP_005169	P20749	BCL3_HUMAN			9	1300	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)	410			Pro/Ser-rich.			Frame_Shift_Del	DEL	ENST00000164227.5	37	c.1230delC	CCDS12642.2																																																																																				0.642	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178		7	960	NA	NA	NA	NA	NA	7	960	---	---	---	---
F13A1	2162	broad.mit.edu	37	6	6145974	6145974	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr6:6145974delC	ENST00000264870.3	-	15	2342	c.2077delG	c.(2077-2079)gaafs	p.E694fs		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	694					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CACACTTCTTCCCACTGCACG	0.537																																							uc003mwv.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6						c.(2077-2079)GAAfs		coagulation factor XIII A1 subunit precursor	L-Glutamine(DB00130)						94.0	84.0	87.0					6																	6145974		2203	4300	6503	SO:0001589	frameshift_variant	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6145974delC	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.2077delG	6.37:g.6145974delC	ENSP00000264870:p.Glu694fs					F13A1_uc011dib.1_Intron	p.E693fs	NM_000129	NP_000120	P00488	F13A_HUMAN			15	2200	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	693					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Frame_Shift_Del	DEL	ENST00000264870.3	37	c.2077delG	CCDS4496.1																																																																																				0.537	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		55	72	NA	NA	NA	NA	NA	55	72	---	---	---	---
PNPLA7	375775	broad.mit.edu	37	9	140417297	140417301	+	Frame_Shift_Del	DEL	GTGCA	GTGCA	-			TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	GTGCA	GTGCA	-	-	GTGCA	GTGCA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chr9:140417297_140417301delGTGCA	ENST00000277531.4	-	8	867_871	c.681_685delTGCAC	c.(679-687)gctgcacctfs	p.AP228fs	PNPLA7_ENST00000406427.1_Frame_Shift_Del_p.AP253fs	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	228					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GTTTTGTAAGGTGCAGCATGGCCCT	0.605																																							uc004cnf.2		NA																	0				skin(1)	1						c.(679-687)GCTGCACCTfs		patatin-like phospholipase domain containing 7																																				SO:0001589	frameshift_variant	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140417297_140417301delGTGCA	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.681_685delTGCAC	9.37:g.140417297_140417301delGTGCA	ENSP00000277531:p.Ala228fs					PNPLA7_uc011mfa.1_5'UTR|PNPLA7_uc010ncj.1_Frame_Shift_Del_p.A252fs	p.A227fs	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	8	1018_1022	-	all_cancers(76;0.126)		227_229			cNMP 1.		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Frame_Shift_Del	DEL	ENST00000277531.4	37	c.681_685delTGCAC	CCDS7045.1																																																																																				0.605	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		19	86	NA	NA	NA	NA	NA	19	86	---	---	---	---
MBTPS2	51360	broad.mit.edu	37	X	21857869	21857871	+	In_Frame_Del	DEL	TGG	TGG	-	rs398124305		TCGA-69-7764-01A-11D-2167-08	TCGA-69-7764-10A-01D-2167-08	TGG	TGG	-	-	TGG	TGG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	436121d4-a80d-4281-8e9d-9decd193c2db	37e8f183-f2f5-4d03-b5b5-6b2ca3c2c15f	g.chrX:21857869_21857871delTGG	ENST00000379484.5	+	1	116_118	c.17_19delTGG	c.(16-21)ctggtg>ctg	p.V11del	MBTPS2_ENST00000365779.2_In_Frame_Del_p.V11del|MBTPS2_ENST00000465888.1_3'UTR	NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	11					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CCGGTGTCGCTGGTGGTGGTGGT	0.685																																							uc010nfq.2		NA																	0				breast(1)|skin(1)	2						c.(16-21)CTGGTG>CTG		YY2 transcription factor				318,3361		136,29,17,1421,490						2.4	1.0			49	402,6025		122,56,102,2168,1633	no	coding	MBTPS2	NM_015884.3		258,85,119,3589,2123	A1A1,A1R,A1,RR,R		6.2549,8.6437,7.1245				720,9386				SO:0001651	inframe_deletion	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21857869_21857871delTGG	AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"""membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans"""	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.17_19delTGG	X.37:g.21857878_21857880delTGG	ENSP00000368798:p.Val11del					MBTPS2_uc004dae.2_In_Frame_Del_p.V11del|MBTPS2_uc004dab.2_In_Frame_Del_p.V11del	p.V11del	NM_206923	NP_996806	O15391	TYY2_HUMAN			1	214_216	+			Error:Variant_position_missing_in_O15391_after_alignment					Q9UM70|Q9UMD3	In_Frame_Del	DEL	ENST00000379484.5	37	c.17_19delTGG	CCDS14201.1																																																																																				0.685	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056026.1			2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
