#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
LRRC47	57470	broad.mit.edu	37	1	3701699	3701699	+	Silent	SNP	G	G	T	rs201817564	byFrequency	TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:3701699G>T	ENST00000378251.1	-	3	1173	c.1146C>A	c.(1144-1146)gcC>gcA	p.A382A	RP1-286D6.5_ENST00000607459.1_RNA|RN7SL574P_ENST00000581512.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	382							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)	p.A382A(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GCCCTTTGACGGCACGGAGCT	0.597																																							uc001akx.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1144-1146)GCC>GCA		leucine rich repeat containing 47							92.0	81.0	85.0					1																	3701699		2203	4300	6503	SO:0001819	synonymous_variant	57470				translation		phenylalanine-tRNA ligase activity|RNA binding	g.chr1:3701699G>T	AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.1146C>A	1.37:g.3701699G>T							p.A382A	NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)	3	1174	-	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	382					Q9ULN5	Silent	SNP	ENST00000378251.1	37	c.1146C>A	CCDS51.1																																																																																				0.597	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1	NM_020710		6	52	1	0	2.0095e-06	0.001984	2.47511e-06	6	52				
ACOT7	11332	broad.mit.edu	37	1	6324699	6324699	+	Silent	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:6324699C>T	ENST00000377855.2	-	9	1247	c.1101G>A	c.(1099-1101)caG>caA	p.Q367Q	ACOT7_ENST00000545482.1_Silent_p.Q252Q|ACOT7_ENST00000608083.1_Silent_p.Q325Q|ACOT7_ENST00000361521.4_Silent_p.Q357Q|ACOT7_ENST00000377845.3_Silent_p.Q337Q|ACOT7_ENST00000377842.3_Silent_p.Q316Q	NM_181864.2	NP_863654.1	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	367					coenzyme A biosynthetic process (GO:0015937)|fatty acid catabolic process (GO:0009062)|long-chain fatty-acyl-CoA catabolic process (GO:0036116)|medium-chain fatty acid biosynthetic process (GO:0051792)|medium-chain fatty-acyl-CoA catabolic process (GO:0036114)|palmitic acid biosynthetic process (GO:1900535)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)	carboxylic ester hydrolase activity (GO:0052689)|fatty-acyl-CoA binding (GO:0000062)|long-chain fatty acyl-CoA binding (GO:0036042)|palmitoyl-CoA hydrolase activity (GO:0016290)|protein homodimerization activity (GO:0042803)	p.Q357Q(1)|p.Q316Q(1)		kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		TCGCCTTCATCTGCAGGTACC	0.627																																					GBM(74;673 1226 4974 11850 13190)	GBM(74;673 1226 4974 11850 13190)	uc001ams.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1099-1101)CAG>CAA		acyl-CoA thioesterase 7 isoform hBACHb							201.0	140.0	161.0					1																	6324699		2201	4299	6500	SO:0001819	synonymous_variant	11332					mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity	g.chr1:6324699C>T	AB074417	CCDS65.1, CCDS66.1, CCDS67.1, CCDS30573.1	1p36	2008-08-14			ENSG00000097021	ENSG00000097021		"""Acyl CoA thioesterases"""	24157	protein-coding gene	gene with protein product	"""brain acyl CoA hydrolase"""	602587				10578051, 16103133, 16940157	Standard	XM_005263427		Approved	BACH, ACH1, ACT, CTE-II, LACH1, MGC1126, hBACH	uc001amt.3	O00154	OTTHUMG00000001295	ENST00000377855.2:c.1101G>A	1.37:g.6324699C>T						ACOT7_uc010nzq.1_Silent_p.Q252Q|ACOT7_uc001amt.2_Silent_p.Q357Q|ACOT7_uc001amu.2_RNA|ACOT7_uc001amv.2_RNA|ACOT7_uc001amq.2_Silent_p.Q316Q|ACOT7_uc001amr.2_Silent_p.Q337Q	p.Q367Q	NM_181864	NP_863654	O00154	BACH_HUMAN		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)	9	1258	-	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)	367					A8K0K7|A8K232|A8K6B8|A8K837|B3KQ12|O43703|Q53Y78|Q5JYL2|Q5JYL3|Q5JYL4|Q5JYL5|Q5JYL6|Q5TGR4|Q9UJM9|Q9Y539|Q9Y540	Silent	SNP	ENST00000377855.2	37	c.1101G>A	CCDS65.1																																																																																				0.627	ACOT7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003773.1	NM_007274		3	29	0	0	0	0.004672	0	3	29				
RSC1A1	6248	broad.mit.edu	37	1	15988127	15988127	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:15988127G>T	ENST00000345034.1	+	1	1764	c.1764G>T	c.(1762-1764)caG>caT	p.Q588H	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	588	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				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)	p.Q588H(1)		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)		TTACTTTGCAGGAAGCTCTTG	0.473																																							uc010obn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1762-1764)CAG>CAT		regulatory solute carrier protein, family 1,							192.0	178.0	183.0					1																	15988127		2203	4300	6503	SO:0001583	missense	6248				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity	g.chr1:15988127G>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.1764G>T	1.37:g.15988127G>T	ENSP00000341963:p.Gln588His						p.Q588H	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	1764	+		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)	588			UBA.		B2RBP5	Missense_Mutation	SNP	ENST00000345034.1	37	c.1764G>T	CCDS161.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801756	0.31869	.	.	ENSG00000215695	ENST00000345034	T	0.55052	0.54	5.96	3.79	0.43588	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);	0.224220	0.31922	N	0.006841	T	0.51092	0.1654	N	0.08118	0	0.34556	D	0.711805	D	0.89917	1.0	D	0.72338	0.977	T	0.67573	-0.5636	10	0.72032	D	0.01	-36.883	12.7287	0.57185	0.158:0.0:0.842:0.0	.	588	Q92681	RSCA1_HUMAN	H	588	ENSP00000341963:Q588H	ENSP00000341963:Q588H	Q	+	3	2	RSC1A1	15860714	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.786000	0.38694	1.538000	0.49270	0.655000	0.94253	CAG		0.473	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511		26	92	1	0	3.73148e-12	0.007291	4.95894e-12	26	92				
SPEN	23013	broad.mit.edu	37	1	16264106	16264106	+	Missense_Mutation	SNP	C	C	A	rs536941383		TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:16264106C>A	ENST00000375759.3	+	12	10679	c.10475C>A	c.(10474-10476)tCc>tAc	p.S3492Y		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3492					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.S3492Y(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CACCTGACTTCCCAGAGACCC	0.547																																							uc001axk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(10474-10476)TCC>TAC		spen homolog, transcriptional regulator							114.0	106.0	109.0					1																	16264106		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16264106C>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.10475C>A	1.37:g.16264106C>A	ENSP00000364912:p.Ser3492Tyr					SPEN_uc010obp.1_Missense_Mutation_p.S3451Y	p.S3492Y	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	12	10679	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3492					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.10475C>A	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693533	0.48202	.	.	ENSG00000065526	ENST00000375759	T	0.10382	2.88	5.78	5.78	0.91487	.	.	.	.	.	T	0.19565	0.0470	L	0.50333	1.59	0.39819	D	0.9728	P	0.50710	0.938	P	0.47430	0.547	T	0.00228	-1.1899	9	0.62326	D	0.03	-4.7292	20.0086	0.97443	0.0:1.0:0.0:0.0	.	3492	Q96T58	MINT_HUMAN	Y	3492	ENSP00000364912:S3492Y	ENSP00000364912:S3492Y	S	+	2	0	SPEN	16136693	0.978000	0.34361	0.992000	0.48379	0.358000	0.29455	4.652000	0.61454	2.717000	0.92951	0.655000	0.94253	TCC		0.547	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		9	89	1	0	7.48243e-07	0.006214	9.2727e-07	9	89				
MST1L	11223	broad.mit.edu	37	1	17087593	17087593	+	RNA	SNP	C	C	T	rs12145944	byFrequency	TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:17087593C>T	ENST00000455405.2	-	0	0							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										ATGGCGAGCGCTGCCCTGCAG	0.577																																							uc010ock.1		NA																	0					0						c.(70-72)CAG>CAA		SubName: Full=Hepatocyte growth factor-like protein homolog;																																						11223							g.chr1:17087593C>T	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17087593C>T						CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_5'Flank	p.Q24Q	NR_002729						2	72	-								B7WPB1|Q13209	Silent	SNP	ENST00000455405.2	37	c.72G>A																																																																																					0.577	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		3	34	0	0	0	0.004672	0	3	34				
PIGV	55650	broad.mit.edu	37	1	27124066	27124066	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:27124066T>C	ENST00000374145.1	+	4	1895	c.1213T>C	c.(1213-1215)Ttt>Ctt	p.F405L	PIGV_ENST00000449950.2_Missense_Mutation_p.F177L|PIGV_ENST00000078527.4_Missense_Mutation_p.F405L	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	405					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)	p.F405L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		TCTCACCAGGTTTTTGGGCTC	0.488																																							uc001bmz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1213-1215)TTT>CTT		phosphatidylinositol glycan class V							134.0	134.0	134.0					1																	27124066		2203	4300	6503	SO:0001583	missense	55650				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity	g.chr1:27124066T>C	AK000484	CCDS287.1	1p36.11	2013-02-26	2006-06-28		ENSG00000060642	ENSG00000060642		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	26031	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 2"", ""dol-P-Man dependent GPI mannosyltransferase"""	610274	"""phosphatidylinositol glycan, class V"""			15623507	Standard	NM_017837		Approved	FLJ20477	uc001bmz.3	Q9NUD9	OTTHUMG00000004005	ENST00000374145.1:c.1213T>C	1.37:g.27124066T>C	ENSP00000363260:p.Phe405Leu					PIGV_uc001bmy.2_Missense_Mutation_p.F170L|PIGV_uc009vso.2_Missense_Mutation_p.V398A|PIGV_uc010ofg.1_Missense_Mutation_p.F170L|PIGV_uc001bna.2_Missense_Mutation_p.F405L	p.F405L	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)	4	1544	+		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	405			Lumenal (Potential).		D3DPL2|Q5JYG7|Q5JYG8|Q5JYG9|Q9NX26	Missense_Mutation	SNP	ENST00000374145.1	37	c.1213T>C	CCDS287.1	.	.	.	.	.	.	.	.	.	.	T	12.46	1.944437	0.34283	.	.	ENSG00000060642	ENST00000078527;ENST00000449950;ENST00000374145	D;D;D	0.82081	-1.57;-1.57;-1.57	5.14	3.99	0.46301	.	0.052080	0.85682	N	0.000000	T	0.73179	0.3554	L	0.33293	1	0.80722	D	1	B;B	0.30146	0.106;0.27	B;B	0.31337	0.062;0.128	T	0.65776	-0.6086	10	0.22109	T	0.4	-8.5299	10.8936	0.47010	0.0:0.0752:0.0:0.9248	.	405;177	Q9NUD9;B4DWP9	PIGV_HUMAN;.	L	405;177;405	ENSP00000078527:F405L;ENSP00000395156:F177L;ENSP00000363260:F405L	ENSP00000078527:F405L	F	+	1	0	PIGV	26996653	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	3.128000	0.50492	0.947000	0.37659	0.379000	0.24179	TTT		0.488	PIGV-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011441.1	NM_017837		9	136	0	0	0	0.004482	0	9	136				
GPATCH3	63906	broad.mit.edu	37	1	27224092	27224092	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:27224092T>A	ENST00000361720.5	-	2	599	c.576A>T	c.(574-576)agA>agT	p.R192S		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	192							nucleic acid binding (GO:0003676)	p.R192S(1)		endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		CCACATTCCCTCTGGGCATCA	0.607																																							uc001bne.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(574-576)AGA>AGT		G patch domain containing 3							45.0	47.0	46.0					1																	27224092		2203	4300	6503	SO:0001583	missense	63906					intracellular	nucleic acid binding	g.chr1:27224092T>A	BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.576A>T	1.37:g.27224092T>A	ENSP00000354645:p.Arg192Ser					GPATCH3_uc009vsp.1_Missense_Mutation_p.R3S	p.R192S	NM_022078	NP_071361	Q96I76	GPTC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)	2	605	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	192					Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	ENST00000361720.5	37	c.576A>T	CCDS290.1	.	.	.	.	.	.	.	.	.	.	A	12.59	1.982342	0.34942	.	.	ENSG00000198746	ENST00000361720;ENST00000536641;ENST00000374122	T	0.48522	0.81	4.81	-1.68	0.08212	.	0.817786	0.11620	N	0.545812	T	0.19685	0.0473	N	0.05230	-0.09	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10405	-1.0631	10	0.33940	T	0.23	-0.5023	2.1659	0.03837	0.1925:0.213:0.3819:0.2127	.	192	Q96I76	GPTC3_HUMAN	S	192;174;3	ENSP00000354645:R192S	ENSP00000354645:R192S	R	-	3	2	GPATCH3	27096679	0.000000	0.05858	0.744000	0.31058	0.929000	0.56500	-1.722000	0.01868	-0.898000	0.03906	-0.257000	0.10917	AGA		0.607	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	NM_022078		10	49	0	0	0	0.008291	0	10	49				
MACF1	23499	broad.mit.edu	37	1	39798795	39798795	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:39798795G>C	ENST00000372915.3	+	36	6637	c.6550G>C	c.(6550-6552)Gag>Cag	p.E2184Q	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.E619Q|MACF1_ENST00000567887.1_Missense_Mutation_p.E2216Q|MACF1_ENST00000564288.1_Missense_Mutation_p.E2179Q|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2184					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)	p.E619Q(1)		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)			ACACACTCTTGAGACTGAATA	0.348																																							uc010oiu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(1855-1857)GAG>CAG		microfilament and actin filament cross-linker							53.0	57.0	55.0					1																	39798795		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39798795G>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.6550G>C	1.37:g.39798795G>C	ENSP00000362006:p.Glu2184Gln					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.E619Q	NM_033044	NP_149033	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)		1	1986	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2184					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.1855G>C		.	.	.	.	.	.	.	.	.	.	G	0.550	-0.849921	0.02651	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.63417	-0.04;1.02	5.92	0.879	0.19155	.	1.106610	0.06794	N	0.787595	T	0.41213	0.1149	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29274	-1.0017	10	0.36615	T	0.2	.	0.9377	0.01348	0.3536:0.1583:0.3295:0.1586	.	2184	Q9UPN3	MACF1_HUMAN	Q	2184;619	ENSP00000362006:E2184Q;ENSP00000289893:E619Q	ENSP00000289893:E619Q	E	+	1	0	MACF1	39571382	0.000000	0.05858	0.007000	0.13788	0.340000	0.28889	0.404000	0.20999	0.731000	0.32448	0.467000	0.42956	GAG		0.348	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		6	72	0	0	0	0.001168	0	6	72				
MACF1	23499	broad.mit.edu	37	1	39799732	39799732	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:39799732G>C	ENST00000372915.3	+	36	7574	c.7487G>C	c.(7486-7488)aGa>aCa	p.R2496T	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.R931T|MACF1_ENST00000567887.1_Missense_Mutation_p.R2528T|MACF1_ENST00000564288.1_Missense_Mutation_p.R2491T|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2496					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)	p.R931T(1)|p.R931I(1)		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)			CTTTTGGAGAGAGAGGAGGCC	0.403																																							uc010oiu.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(2791-2793)AGA>ACA		microfilament and actin filament cross-linker							160.0	165.0	163.0					1																	39799732		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39799732G>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.7487G>C	1.37:g.39799732G>C	ENSP00000362006:p.Arg2496Thr					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.R931T	NM_033044	NP_149033	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)		1	2923	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2496					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.2792G>C		.	.	.	.	.	.	.	.	.	.	G	7.610	0.674529	0.14841	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.69306	-0.39;-0.39	5.38	1.43	0.22495	.	0.713114	0.13729	N	0.366842	T	0.62913	0.2467	M	0.78049	2.395	0.80722	D	1	B	0.17268	0.021	B	0.16289	0.015	T	0.57225	-0.7848	10	0.59425	D	0.04	.	5.7296	0.18032	0.4032:0.0:0.4745:0.1223	.	2496	Q9UPN3	MACF1_HUMAN	T	2496;931	ENSP00000362006:R2496T;ENSP00000289893:R931T	ENSP00000289893:R931T	R	+	2	0	MACF1	39572319	0.990000	0.36364	0.990000	0.47175	0.998000	0.95712	1.382000	0.34374	0.011000	0.14865	0.561000	0.74099	AGA		0.403	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		12	146	0	0	0	0.00245	0	12	146				
TYW3	127253	broad.mit.edu	37	1	75199007	75199007	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:75199007G>T	ENST00000370867.3	+	1	168	c.79G>T	c.(79-81)Gac>Tac	p.D27Y	TYW3_ENST00000479111.1_5'UTR|TYW3_ENST00000457880.2_Missense_Mutation_p.D27Y|CRYZ_ENST00000417775.1_5'UTR|CRYZ_ENST00000370872.3_5'Flank|CRYZ_ENST00000340866.5_5'Flank|TYW3_ENST00000421739.2_Missense_Mutation_p.D27Y|CRYZ_ENST00000370871.3_5'Flank	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	27					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)	p.D27Y(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						GGGCAGTGTTGACGAGGATGT	0.572																																							uc001dgn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(79-81)GAC>TAC		tRNA-yW synthesizing protein 3 homolog isoform							136.0	107.0	117.0					1																	75199007		2203	4300	6503	SO:0001583	missense	127253				tRNA processing		methyltransferase activity	g.chr1:75199007G>T	BX647591	CCDS666.1, CCDS53334.1	1p31.1	2008-02-05	2006-05-25	2006-05-25	ENSG00000162623	ENSG00000162623			24757	protein-coding gene	gene with protein product		611245	"""chromosome 1 open reading frame 171"""	C1orf171		17150819	Standard	NM_138467		Approved	FLJ40918	uc001dgn.3	Q6IPR3	OTTHUMG00000009641	ENST00000370867.3:c.79G>T	1.37:g.75199007G>T	ENSP00000359904:p.Asp27Tyr					CRYZ_uc001dgk.2_5'UTR|CRYZ_uc001dgj.2_5'UTR|CRYZ_uc001dgl.2_5'UTR|CRYZ_uc001dgm.2_5'UTR|TYW3_uc010oqw.1_Missense_Mutation_p.D27Y|TYW3_uc010oqx.1_Missense_Mutation_p.D27Y|TYW3_uc010oqy.1_RNA	p.D27Y	NM_138467	NP_612476	Q6IPR3	TYW3_HUMAN			1	168	+			27					B4DSP9|E9PGR7|Q5HYJ0|Q8N7L1	Missense_Mutation	SNP	ENST00000370867.3	37	c.79G>T	CCDS666.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733167	0.89482	.	.	ENSG00000162623	ENST00000457880;ENST00000370867;ENST00000421739	T;T;T	0.72725	-0.68;-0.68;-0.68	4.61	4.61	0.57282	tRNA wybutosine-synthesizing protein (2);	0.000000	0.85682	D	0.000000	D	0.87577	0.6212	H	0.95611	3.695	0.41685	D	0.98931	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91424	0.5161	10	0.87932	D	0	-20.7676	17.2518	0.87044	0.0:0.0:1.0:0.0	.	27;27;27	B4DFU6;E9PGR7;Q6IPR3	.;.;TYW3_HUMAN	Y	27	ENSP00000407025:D27Y;ENSP00000359904:D27Y;ENSP00000409336:D27Y	ENSP00000359904:D27Y	D	+	1	0	TYW3	74971595	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.107000	0.89557	2.378000	0.81104	0.561000	0.74099	GAC		0.572	TYW3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026573.1	NM_138467		7	27	1	0	0.00198382	0.001984	0.00215447	7	27				
CSDE1	7812	broad.mit.edu	37	1	115266602	115266602	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:115266602G>C	ENST00000358528.4	-	16	2201	c.1775C>G	c.(1774-1776)gCt>gGt	p.A592G	CSDE1_ENST00000534699.1_Missense_Mutation_p.A592G|CSDE1_ENST00000438362.2_Missense_Mutation_p.A638G|CSDE1_ENST00000530886.1_Missense_Mutation_p.A462G|CSDE1_ENST00000339438.6_Missense_Mutation_p.A561G|CSDE1_ENST00000369530.1_Missense_Mutation_p.A607G|CSDE1_ENST00000261443.5_Missense_Mutation_p.A561G	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	592					male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.A592G(1)		NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTGGGATCAGCTTCCTCAGT	0.403																																							uc001efk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1774-1776)GCT>GGT		upstream of NRAS isoform 1							174.0	153.0	160.0					1																	115266602		2203	4300	6503	SO:0001583	missense	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115266602G>C		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1775C>G	1.37:g.115266602G>C	ENSP00000351329:p.Ala592Gly					CSDE1_uc001efi.2_Missense_Mutation_p.A638G|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Missense_Mutation_p.A561G|CSDE1_uc001efm.2_Missense_Mutation_p.A607G|CSDE1_uc009wgv.2_Missense_Mutation_p.A592G|CSDE1_uc001efn.2_Missense_Mutation_p.A561G	p.A592G	NM_001007553	NP_001007554	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	16	2241	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	592					A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	37	c.1775C>G	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836528	0.50951	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	6.07	6.07	0.98685	.	0.107914	0.64402	D	0.000004	T	0.19046	0.0457	N	0.08118	0	0.43342	D	0.99539	B;B;B	0.31100	0.001;0.308;0.002	B;B;B	0.29440	0.002;0.102;0.006	T	0.09207	-1.0685	9	0.30854	T	0.27	-8.5906	13.8057	0.63230	0.0695:0.0:0.9305:0.0	.	607;592;638	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	G	561;638;592;561;462;607;592	.	ENSP00000261443:A561G	A	-	2	0	CSDE1	115068125	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.835000	0.75344	2.885000	0.99019	0.655000	0.94253	GCT		0.403	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		8	120	0	0	0	0.004482	0	8	120				
ATP1A2	477	broad.mit.edu	37	1	160093741	160093741	+	Silent	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:160093741G>C	ENST00000361216.3	+	5	479	c.390G>C	c.(388-390)ctG>ctC	p.L130L	ATP1A2_ENST00000392233.3_Silent_p.L130L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	130					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.L130L(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AGCTATATCTGGGTGTGGTGC	0.542																																							uc001fvc.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|ovary(2)|skin(2)	7						c.(388-390)CTG>CTC		Na+/K+ -ATPase alpha 2 subunit proprotein							98.0	90.0	92.0					1																	160093741		2203	4300	6503	SO:0001819	synonymous_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160093741G>C	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.390G>C	1.37:g.160093741G>C						ATP1A2_uc001fvb.2_Silent_p.L130L|ATP1A2_uc010piz.1_5'UTR	p.L130L	NM_000702	NP_000693	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		5	522	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		130			Helical; (Potential).		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	c.390G>C	CCDS1196.1																																																																																				0.542	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		8	42	0	0	0	0.00308	0	8	42				
SLAMF1	6504	broad.mit.edu	37	1	160604481	160604481	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:160604481T>C	ENST00000302035.6	-	3	971	c.622A>G	c.(622-624)Atc>Gtc	p.I208V	SLAMF1_ENST00000235739.5_Missense_Mutation_p.I208V|SLAMF1_ENST00000538290.1_Missense_Mutation_p.I208V|SLAMF1_ENST00000355199.3_Missense_Mutation_p.I208V	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	208	Ig-like C2-type.				lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.I208V(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ACGGTGCAGATGTAGATATTG	0.607																																							uc001fwl.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(622-624)ATC>GTC		signaling lymphocytic activation molecule family							160.0	147.0	151.0					1																	160604481		2203	4300	6503	SO:0001583	missense	6504				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	g.chr1:160604481T>C	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.622A>G	1.37:g.160604481T>C	ENSP00000306190:p.Ile208Val					SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_RNA	p.I208V	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		3	968	-	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		208			Ig-like C2-type.|Extracellular (Potential).|Ig-like V-type.		Q5W172|Q9HBE8	Missense_Mutation	SNP	ENST00000302035.6	37	c.622A>G	CCDS1207.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.093810	0.00364	.	.	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000538290;ENST00000355199	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	4.3	-1.99	0.07457	Immunoglobulin-like (1);	0.752804	0.13049	N	0.417875	T	0.10981	0.0268	L	0.31420	0.93	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.33777	-0.9855	10	0.35671	T	0.21	-40.1576	9.0956	0.36636	0.0:0.5388:0.0:0.4612	.	208	Q13291	SLAF1_HUMAN	V	208	ENSP00000306190:I208V;ENSP00000235739:I208V;ENSP00000438406:I208V;ENSP00000347333:I208V	ENSP00000235739:I208V	I	-	1	0	SLAMF1	158871105	0.222000	0.23652	0.061000	0.19648	0.013000	0.08279	-0.038000	0.12144	-0.378000	0.07918	-0.280000	0.10049	ATC		0.607	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1			15	98	0	0	0	0.00245	0	15	98				
FAM129A	116496	broad.mit.edu	37	1	184863276	184863276	+	Missense_Mutation	SNP	T	T	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:184863276T>G	ENST00000367511.3	-	3	444	c.251A>C	c.(250-252)aAg>aCg	p.K84T		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	84					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.K84T(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CTTCCACTTCTTTATGTCTTC	0.353																																							uc001gra.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(250-252)AAG>ACG		niban protein isoform 2							205.0	193.0	197.0					1																	184863276		2203	4300	6503	SO:0001583	missense	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184863276T>G	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.251A>C	1.37:g.184863276T>G	ENSP00000356481:p.Lys84Thr					FAM129A_uc009wyh.1_Missense_Mutation_p.K84T|FAM129A_uc009wyi.1_Intron	p.K84T	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN			3	445	-			84					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.251A>C	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	T	17.91	3.503413	0.64298	.	.	ENSG00000135842	ENST00000367511	T	0.22945	1.93	5.21	1.52	0.23074	.	0.156849	0.56097	D	0.000027	T	0.34221	0.0890	M	0.68593	2.085	0.26084	N	0.981044	D	0.57571	0.98	P	0.52856	0.711	T	0.17018	-1.0383	10	0.87932	D	0	-21.881	7.4304	0.27124	0.0:0.2475:0.0:0.7525	.	84	Q9BZQ8	NIBAN_HUMAN	T	84	ENSP00000356481:K84T	ENSP00000356481:K84T	K	-	2	0	FAM129A	183129899	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	1.590000	0.36654	0.097000	0.17492	-0.385000	0.06624	AAG		0.353	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			3	94	0	0	0	0.000602	0	3	94				
ZP4	57829	broad.mit.edu	37	1	238050095	238050095	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:238050095G>A	ENST00000366570.4	-	6	973	c.815C>T	c.(814-816)tCt>tTt	p.S272F	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	272	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.S272F(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ACGAGTGACAGAGCCACGGCT	0.483																																					NSCLC(166;160 2029 11600 18754 19936)	NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(814-816)TCT>TTT		zona pellucida glycoprotein 4 preproprotein							168.0	152.0	158.0					1																	238050095		2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238050095G>A	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.815C>T	1.37:g.238050095G>A	ENSP00000355529:p.Ser272Phe					LOC100130331_uc010pyc.1_Intron	p.S272F	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		6	815	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	272			ZP.|Extracellular (Potential).		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.815C>T	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063375	0.55432	.	.	ENSG00000116996	ENST00000366570	D	0.82526	-1.62	4.72	3.79	0.43588	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.91472	0.7308	M	0.90542	3.125	0.21220	N	0.999755	D	0.89917	1.0	D	0.91635	0.999	D	0.83759	0.0213	10	0.87932	D	0	-17.5114	11.1348	0.48368	0.0941:0.0:0.9059:0.0	.	272	Q12836	ZP4_HUMAN	F	272	ENSP00000355529:S272F	ENSP00000355529:S272F	S	-	2	0	ZP4	236116718	0.970000	0.33590	0.010000	0.14722	0.026000	0.11368	4.407000	0.59754	2.158000	0.67659	0.655000	0.94253	TCT		0.483	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			8	102	0	0	0	0.00308	0	8	102				
NLRP3	114548	broad.mit.edu	37	1	247597434	247597434	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:247597434G>C	ENST00000336119.3	+	5	3103	c.2357G>C	c.(2356-2358)tGc>tCc	p.C786S	NLRP3_ENST00000391827.2_Missense_Mutation_p.C729S|NLRP3_ENST00000366497.2_Missense_Mutation_p.C786S|NLRP3_ENST00000391828.3_Missense_Mutation_p.C786S|NLRP3_ENST00000366496.2_Missense_Mutation_p.C786S|NLRP3_ENST00000348069.2_Missense_Mutation_p.C729S	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	786					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.C786S(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCGCATGAGTGCTGCTTCGAC	0.557																																							uc001icr.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(2356-2358)TGC>TCC		NLR family, pyrin domain containing 3 isoform a							142.0	133.0	136.0					1																	247597434		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247597434G>C	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2357G>C	1.37:g.247597434G>C	ENSP00000337383:p.Cys786Ser					NLRP3_uc001ics.2_Missense_Mutation_p.C786S|NLRP3_uc001icu.2_Missense_Mutation_p.C786S|NLRP3_uc001icw.2_Missense_Mutation_p.C729S|NLRP3_uc001icv.2_Missense_Mutation_p.C729S|NLRP3_uc010pyw.1_Intron	p.C786S	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		7	2495	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	786			LRR 2.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.2357G>C	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	g	10.97	1.500141	0.26861	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;D;T;D	0.86956	0.8;0.74;0.8;-2.19;0.74;-2.19	3.44	3.44	0.39384	.	0.000000	0.44902	D	0.000407	D	0.84488	0.5483	L	0.31926	0.97	0.34735	D	0.73018	B;D;B;B	0.62365	0.405;0.991;0.003;0.04	B;P;B;B	0.61874	0.101;0.895;0.017;0.024	T	0.81731	-0.0799	10	0.10111	T	0.7	.	6.8814	0.24174	0.1234:0.0:0.8765:0.0	.	729;729;786;786	Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;NALP3_HUMAN	S	786;786;786;729;786;729	ENSP00000375704:C786S;ENSP00000355453:C786S;ENSP00000337383:C786S;ENSP00000294752:C729S;ENSP00000355452:C786S;ENSP00000375703:C729S	ENSP00000337383:C786S	C	+	2	0	NLRP3	245664057	1.000000	0.71417	0.998000	0.56505	0.683000	0.39861	3.721000	0.54941	2.254000	0.74563	0.472000	0.43445	TGC		0.557	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		19	104	0	0	0	0.014323	0	19	104				
PCDH15	65217	broad.mit.edu	37	10	55826528	55826528	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr10:55826528C>T	ENST00000320301.6	-	18	2603	c.2209G>A	c.(2209-2211)Ggt>Agt	p.G737S	PCDH15_ENST00000395445.1_Missense_Mutation_p.G744S|PCDH15_ENST00000395432.2_Missense_Mutation_p.G700S|PCDH15_ENST00000437009.1_Missense_Mutation_p.G666S|PCDH15_ENST00000395430.1_Missense_Mutation_p.G737S|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.G737S|PCDH15_ENST00000409834.1_Missense_Mutation_p.G348S|PCDH15_ENST00000361849.3_Missense_Mutation_p.G737S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.G742S|PCDH15_ENST00000395433.1_Missense_Mutation_p.G715S|PCDH15_ENST00000373957.3_Missense_Mutation_p.G715S|PCDH15_ENST00000373965.2_Missense_Mutation_p.G744S|PCDH15_ENST00000395438.1_Missense_Mutation_p.G737S	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	737	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.G742S(2)|p.G737S(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTACTTGACCCACAAAGGCA	0.328										HNSCC(58;0.16)																													uc001jju.1		NA																	4	Substitution - Missense(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(2209-2211)GGT>AGT		protocadherin 15 isoform CD1-4 precursor							88.0	83.0	85.0					10																	55826528		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55826528C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2209G>A	10.37:g.55826528C>T	ENSP00000322604:p.Gly737Ser	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.G742S|PCDH15_uc010qhr.1_Missense_Mutation_p.G737S|PCDH15_uc010qhs.1_Missense_Mutation_p.G749S|PCDH15_uc010qht.1_Missense_Mutation_p.G744S|PCDH15_uc010qhu.1_Missense_Mutation_p.G737S|PCDH15_uc001jjv.1_Missense_Mutation_p.G715S|PCDH15_uc010qhv.1_Missense_Mutation_p.G737S|PCDH15_uc010qhw.1_Missense_Mutation_p.G700S|PCDH15_uc010qhx.1_Missense_Mutation_p.G666S|PCDH15_uc010qhy.1_Missense_Mutation_p.G742S|PCDH15_uc010qhz.1_Missense_Mutation_p.G737S|PCDH15_uc010qia.1_Missense_Mutation_p.G715S|PCDH15_uc010qib.1_Missense_Mutation_p.G715S|PCDH15_uc001jjw.2_Missense_Mutation_p.G737S	p.G737S	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			18	2604	-		Melanoma(3;0.117)|Lung SC(717;0.238)	737			Extracellular (Potential).|Cadherin 7.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.2209G>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874379	0.91664	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T	0.61859	0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.07;0.63;0.63;0.63;0.63	5.85	5.85	0.93711	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.73860	0.3641	L	0.58354	1.805	0.80722	D	1	D;P;P;P;D;P;D;D;D;D;D;D;B;D;D	0.71674	0.961;0.866;0.932;0.866;0.988;0.866;0.961;0.986;0.996;0.961;0.996;0.996;0.295;0.998;0.996	P;P;P;P;D;P;P;D;D;D;D;P;B;D;D	0.70016	0.889;0.593;0.811;0.756;0.93;0.756;0.889;0.936;0.967;0.917;0.93;0.889;0.355;0.927;0.93	T	0.74518	-0.3639	9	0.72032	D	0.01	.	18.9349	0.92582	0.0:1.0:0.0:0.0	.	715;737;737;742;666;700;737;737;744;744;737;742;737;715;737	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	S	744;742;737;737;348;744;700;737;715;715;737;737;742;666;737	ENSP00000363076:G744S;ENSP00000410304:G742S;ENSP00000378826:G737S;ENSP00000386693:G348S;ENSP00000378832:G744S;ENSP00000378820:G700S;ENSP00000354950:G737S;ENSP00000378821:G715S;ENSP00000363068:G715S;ENSP00000322604:G737S;ENSP00000378818:G737S;ENSP00000412628:G666S;ENSP00000363066:G737S	ENSP00000322604:G737S	G	-	1	0	PCDH15	55496534	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.661000	0.61518	2.773000	0.95371	0.655000	0.94253	GGT		0.328	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		3	61	0	0	0	0.004672	0	3	61				
HPS1	3257	broad.mit.edu	37	10	100177472	100177472	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr10:100177472C>T	ENST00000325103.6	-	20	2185	c.1952G>A	c.(1951-1953)cGc>cAc	p.R651H	HPS1_ENST00000361490.4_Missense_Mutation_p.R651H|PYROXD2_ENST00000370575.4_5'Flank|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	651					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)	p.R651H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		GCTGTAGTAGCGCAGGAGCTT	0.637									Hermansky-Pudlak syndrome																														uc010qpf.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1951-1953)CGC>CAC		Hermansky-Pudlak syndrome 1 protein isoform a							63.0	58.0	60.0					10																	100177472		2203	4300	6503	SO:0001583	missense	3257	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100177472C>T	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.1952G>A	10.37:g.100177472C>T	ENSP00000326649:p.Arg651His					PYROXD2_uc001kpc.2_5'Flank|PYROXD2_uc001kpd.2_5'Flank|PYROXD2_uc010qpe.1_5'Flank|HPS1_uc001kpi.1_Missense_Mutation_p.R652H|HPS1_uc001kpj.1_Silent_p.A560A|HPS1_uc001kpk.1_Missense_Mutation_p.R476H	p.R651H	NM_000195	NP_000186	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	20	2198	-		Colorectal(252;0.234)	651					A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Missense_Mutation	SNP	ENST00000325103.6	37	c.1952G>A	CCDS7475.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780971	0.90282	.	.	ENSG00000107521	ENST00000325103;ENST00000361490;ENST00000407891	T;T	0.39056	1.1;1.1	5.5	4.6	0.57074	.	0.107791	0.64402	D	0.000003	T	0.66674	0.2813	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72161	-0.4374	10	0.66056	D	0.02	.	14.001	0.64433	0.0:0.9277:0.0:0.0723	.	618;652	Q92902-2;D3DR62	.;.	H	651;651;618	ENSP00000326649:R651H;ENSP00000355310:R651H	ENSP00000326649:R651H	R	-	2	0	HPS1	100167462	1.000000	0.71417	0.999000	0.59377	0.939000	0.58152	5.748000	0.68697	1.333000	0.45449	0.456000	0.33151	CGC		0.637	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		3	31	0	0	0	0.004672	0	3	31				
CHST15	51363	broad.mit.edu	37	10	125769718	125769718	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr10:125769718C>A	ENST00000346248.5	-	8	2275	c.1633G>T	c.(1633-1635)Gct>Tct	p.A545S	CHST15_ENST00000435907.1_Missense_Mutation_p.A545S	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	545					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)	p.A545S(1)		endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GCCAGCCTAGCGTTGAAGGGC	0.622																																							uc001lhl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1633-1635)GCT>TCT		B cell RAG associated protein							61.0	62.0	62.0					10																	125769718		2203	4300	6503	SO:0001583	missense	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125769718C>A	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.1633G>T	10.37:g.125769718C>A	ENSP00000333947:p.Ala545Ser					CHST15_uc001lhm.2_Missense_Mutation_p.A545S|CHST15_uc001lhn.2_Missense_Mutation_p.A545S	p.A545S	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN			7	2146	-			545			Lumenal (Potential).		O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	37	c.1633G>T	CCDS7638.1	.	.	.	.	.	.	.	.	.	.	C	1.220	-0.627300	0.03610	.	.	ENSG00000182022	ENST00000346248;ENST00000435907	T;T	0.56275	0.47;0.47	5.42	-1.65	0.08291	.	1.163360	0.05967	N	0.641672	T	0.33644	0.0870	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.20371	-1.0277	10	0.11182	T	0.66	-5.4696	7.567	0.27885	0.0:0.2985:0.1213:0.5802	.	545	Q7LFX5	CHSTF_HUMAN	S	545	ENSP00000333947:A545S;ENSP00000402394:A545S	ENSP00000333947:A545S	A	-	1	0	CHST15	125759708	0.000000	0.05858	0.001000	0.08648	0.038000	0.13279	-1.061000	0.03472	-0.197000	0.10350	0.563000	0.77884	GCT		0.622	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		10	35	1	0	0.000673444	0.008291	0.000747449	10	35				
MGMT	4255	broad.mit.edu	37	10	131557476	131557476	+	Silent	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr10:131557476C>A	ENST00000306010.7	+	4	410	c.378C>A	c.(376-378)acC>acA	p.T126T		NM_002412.3	NP_002403.2	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	95					cellular response to ionizing radiation (GO:0071479)|cellular response to organic cyclic compound (GO:0071407)|cellular response to oxidative stress (GO:0034599)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA ligation (GO:0006266)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to toxic substance (GO:0009636)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methylated-DNA-[protein]-cysteine S-methyltransferase activity (GO:0003908)|methyltransferase activity (GO:0008168)	p.T95T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	L-Cysteine(DB00151)	AGTCGTTCACCAGACAGGTGT	0.478								Direct reversal of damage																															uc001lkh.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(376-378)ACC>ACA	Direct_reversal_of_damage	O-6-methylguanine-DNA methyltransferase							111.0	115.0	114.0					10																	131557476		2203	4300	6503	SO:0001819	synonymous_variant	4255							g.chr10:131557476C>A	M29971	CCDS7660.2	10q26	2005-10-06			ENSG00000170430	ENSG00000170430			7059	protein-coding gene	gene with protein product		156569					Standard	NM_002412		Approved		uc001lkh.2	P16455	OTTHUMG00000019261	ENST00000306010.7:c.378C>A	10.37:g.131557476C>A							p.T126T	NM_002412	NP_002403	P16455	MGMT_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	4	404	+		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)	95					Q5VY78	Silent	SNP	ENST00000306010.7	37	c.378C>A	CCDS7660.2																																																																																				0.478	MGMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051009.3	NM_002412		10	129	1	0	0.000151284	0.001855	0.000173633	10	129				
WEE1	7465	broad.mit.edu	37	11	9597496	9597496	+	Missense_Mutation	SNP	T	T	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr11:9597496T>G	ENST00000450114.2	+	2	891	c.638T>G	c.(637-639)cTc>cGc	p.L213R	snoU13_ENST00000458785.1_RNA|WEE1_ENST00000299613.6_5'UTR	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	213					blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.L213R(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		GGTAGTTCTCTCTTCATGGAT	0.388																																							uc001mhs.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	5						c.(637-639)CTC>CGC		WEE1 tyrosine kinase isoform 1							90.0	94.0	93.0					11																	9597496		2201	4294	6495	SO:0001583	missense	7465				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity	g.chr11:9597496T>G	X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"""wee1+ (S. pombe) homolog"", ""WEE1 homolog (S. pombe)"""			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.638T>G	11.37:g.9597496T>G	ENSP00000402084:p.Leu213Arg					WEE1_uc001mht.2_5'UTR|WEE1_uc001mhu.2_5'UTR	p.L213R	NM_003390	NP_003381	P30291	WEE1_HUMAN		all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)	2	891	+			213					B3KVE1|D3DQV0	Missense_Mutation	SNP	ENST00000450114.2	37	c.638T>G	CCDS7800.1	.	.	.	.	.	.	.	.	.	.	T	18.71	3.681900	0.68042	.	.	ENSG00000166483	ENST00000450114	T	0.26223	1.75	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.42810	0.1219	M	0.71581	2.175	0.80722	D	1	D	0.63046	0.992	P	0.56434	0.798	T	0.34825	-0.9813	10	0.37606	T	0.19	-6.7045	14.0801	0.64914	0.0:0.0:0.0:1.0	.	213	P30291	WEE1_HUMAN	R	213	ENSP00000402084:L213R	ENSP00000402084:L213R	L	+	2	0	WEE1	9554072	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	4.564000	0.60830	1.766000	0.52107	0.459000	0.35465	CTC		0.388	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386757.1	NM_003390		21	69	0	0	0	0.010504	0	21	69				
NAV2	89797	broad.mit.edu	37	11	20067055	20067055	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr11:20067055C>G	ENST00000396087.3	+	15	3909	c.3810C>G	c.(3808-3810)aaC>aaG	p.N1270K	NAV2_ENST00000311043.8_Missense_Mutation_p.N333K|NAV2_ENST00000527559.2_Missense_Mutation_p.N1199K|NAV2_ENST00000533917.1_Missense_Mutation_p.N333K|NAV2_ENST00000396085.1_Missense_Mutation_p.N1247K|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000349880.4_Missense_Mutation_p.N1247K|NAV2_ENST00000540292.1_Missense_Mutation_p.N1201K|NAV2_ENST00000360655.4_Missense_Mutation_p.N1183K	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1270					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.N1270K(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GTCTGGTCAACCAAACAGACA	0.547																																							uc010rdm.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)|pancreas(1)	6						c.(3808-3810)AAC>AAG		neuron navigator 2 isoform 2							66.0	63.0	64.0					11																	20067055		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20067055C>G	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.3810C>G	11.37:g.20067055C>G	ENSP00000379396:p.Asn1270Lys					NAV2_uc001mpp.2_Missense_Mutation_p.N1183K|NAV2_uc001mpr.3_Missense_Mutation_p.N1247K|NAV2_uc001mpt.2_Missense_Mutation_p.N333K|NAV2_uc009yhx.2_Missense_Mutation_p.N333K|NAV2_uc009yhy.1_Missense_Mutation_p.N246K	p.N1270K	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN			15	4171	+			1270					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.3810C>G	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417755	0.62622	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11	5.91	3.74	0.42951	.	0.000000	0.64402	D	0.000001	T	0.60996	0.2312	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.994;0.995;0.999;0.998	T	0.62872	-0.6762	9	.	.	.	.	12.4407	0.55623	0.0:0.8009:0.0:0.1991	.	1270;333;333;1247;1183	Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	NAV2_HUMAN;.;.;.;.	K	1183;1247;1247;1270;1199;1201;333;333;333;333	ENSP00000353871:N1183K;ENSP00000379394:N1247K;ENSP00000309577:N1247K;ENSP00000379396:N1270K;ENSP00000435395:N1199K;ENSP00000443489:N1201K;ENSP00000437316:N333K;ENSP00000437136:N333K;ENSP00000312169:N333K	.	N	+	3	2	NAV2	20023631	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.628000	0.37060	1.523000	0.49018	-0.123000	0.14984	AAC		0.547	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		5	42	0	0	0	0.000602	0	5	42				
KIAA1549L	25758	broad.mit.edu	37	11	33689585	33689585	+	Missense_Mutation	SNP	A	A	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr11:33689585A>C	ENST00000321505.4	+	20	5615	c.5435A>C	c.(5434-5436)gAc>gCc	p.D1812A	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.D1818A|RP4-541C22.5_ENST00000534431.1_RNA			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1812						integral component of membrane (GO:0016021)		p.D1812A(1)									GCAGAAAACGACCCGTCTGAC	0.637																																							uc001mup.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(5452-5454)GAC>GCC		hypothetical protein LOC25758							52.0	60.0	57.0					11																	33689585		2036	4190	6226	SO:0001583	missense	25758					integral to membrane		g.chr11:33689585A>C	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.5435A>C	11.37:g.33689585A>C	ENSP00000315295:p.Asp1812Ala						p.D1818A	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			20	5577	+			1812					B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.5453A>C	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	A	13.58	2.280950	0.40394	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568	.	.	.	5.67	4.48	0.54585	.	0.431057	0.22358	N	0.061120	T	0.39118	0.1066	N	0.14661	0.345	0.34355	D	0.690315	D	0.59767	0.986	P	0.50659	0.647	T	0.52094	-0.8621	9	0.38643	T	0.18	-14.4705	12.4628	0.55741	0.8603:0.1397:0.0:0.0	.	1818	E9PAT2	.	A	1812;1818;1651	.	ENSP00000315295:D1812A	D	+	2	0	C11orf41	33646161	1.000000	0.71417	0.998000	0.56505	0.309000	0.27889	7.040000	0.76551	2.169000	0.68431	0.459000	0.35465	GAC		0.637	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		5	23	0	0	0	0.000602	0	5	23				
OR5L2	26338	broad.mit.edu	37	11	55594985	55594985	+	Silent	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr11:55594985C>T	ENST00000378397.1	+	1	291	c.291C>T	c.(289-291)tgC>tgT	p.C97C		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C97C(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCCTAGGGTGCATGGTGCAAT	0.478										HNSCC(27;0.073)																													uc001nhy.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(289-291)TGC>TGT		olfactory receptor, family 5, subfamily L,							193.0	183.0	186.0					11																	55594985		2200	4296	6496	SO:0001819	synonymous_variant	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594985C>T	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.291C>T	11.37:g.55594985C>T		HNSCC(27;0.073)					p.C97C	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	291	+		all_epithelial(135;0.208)	97			Extracellular (Potential).		Q6IF66|Q96RB2	Silent	SNP	ENST00000378397.1	37	c.291C>T	CCDS31511.1																																																																																				0.478	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		23	161	0	0	0	0.012319	0	23	161				
MS4A6A	64231	broad.mit.edu	37	11	59949120	59949120	+	Silent	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr11:59949120G>A	ENST00000530839.1	-	3	573	c.81C>T	c.(79-81)ccC>ccT	p.P27P	MS4A6A_ENST00000412309.2_Silent_p.P55P|MS4A6A_ENST00000323961.3_Silent_p.P27P|MS4A6A_ENST00000426738.2_Silent_p.P27P|MS4A6A_ENST00000533023.1_Silent_p.P27P|MS4A6A_ENST00000528851.1_Silent_p.P27P|MS4A6A_ENST00000532169.1_Silent_p.P27P|MS4A6A_ENST00000420732.2_Silent_p.P27P|MS4A6A_ENST00000529054.1_Silent_p.P55P|MS4A6A_ENST00000529906.1_5'Flank	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	27						integral component of membrane (GO:0016021)		p.P27P(2)|p.P55P(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGGTGGGTTCGGGTTTCTCTG	0.458																																							uc001nor.2		NA																	3	Substitution - coding silent(3)		lung(2)|upper_aerodigestive_tract(1)		0						c.(79-81)CCC>CCT		membrane-spanning 4-domains, subfamily A, member							212.0	188.0	196.0					11																	59949120		2201	4295	6496	SO:0001819	synonymous_variant	64231					integral to membrane	receptor activity	g.chr11:59949120G>A	AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.81C>T	11.37:g.59949120G>A						MS4A6A_uc001noq.2_Silent_p.P27P|MS4A6A_uc001nos.3_Silent_p.P55P|MS4A6A_uc009ymv.2_Silent_p.P27P|MS4A6A_uc001not.2_Silent_p.P27P|MS4A6A_uc010rla.1_Silent_p.P55P|MS4A6A_uc010rlb.1_Silent_p.P27P	p.P27P	NM_152852	NP_690591	Q9H2W1	M4A6A_HUMAN			2	319	-			27			Cytoplasmic (Potential).		A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Silent	SNP	ENST00000530839.1	37	c.81C>T	CCDS7981.1	.	.	.	.	.	.	.	.	.	.	g	4.862	0.160272	0.09287	.	.	ENSG00000110077	ENST00000533989	T	0.46063	0.88	4.72	-9.16	0.00694	.	1.513470	0.04473	N	0.376456	T	0.25419	0.0618	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.16247	-1.0409	6	.	.	.	.	8.5908	0.33686	0.639:0.0:0.1664:0.1946	.	.	.	.	L	7	ENSP00000436133:P7L	.	P	-	2	0	MS4A6A	59705696	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.587000	0.00902	-2.537000	0.00488	-1.607000	0.00807	CCG		0.458	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393848.1			36	135	0	0	0	0.004878	0	36	135				
NCAM1	4684	broad.mit.edu	37	11	113140955	113140955	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr11:113140955G>T	ENST00000316851.7	+	16	2147	c.2147G>T	c.(2146-2148)gGc>gTc	p.G716V	NCAM1_ENST00000397957.4_3'UTR|NCAM1-AS1_ENST00000533638.1_RNA|NCAM1-AS1_ENST00000526229.1_RNA	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	726					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.G725V(1)|p.G181V(1)|p.G716V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GCCATCGTGGGCATCCTCATC	0.582																																							uc001pns.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(316-318)GGC>GTC		SubName: Full=cDNA FLJ52974, highly similar to Neural cell adhesion molecule 1, 140 kDa isoform;							154.0	172.0	166.0					11																	113140955		2157	4265	6422	SO:0001583	missense	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113140955G>T		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000316851.7:c.2147G>T	11.37:g.113140955G>T	ENSP00000318472:p.Gly716Val					uc010rwu.1_3'UTR|NCAM1_uc001pnt.2_5'Flank	p.G106V			P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	3	349	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	726			Helical; (Potential).		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000316851.7	37	c.317G>T		.	.	.	.	.	.	.	.	.	.	G	31	5.059829	0.93846	.	.	ENSG00000149294	ENST00000531044;ENST00000316851;ENST00000433634	T	0.68331	-0.32	5.53	5.53	0.82687	.	0.065561	0.64402	U	0.000010	D	0.83552	0.5279	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.84890	0.0836	9	0.62326	D	0.03	-10.4895	19.4657	0.94939	0.0:0.0:1.0:0.0	.	598;716;726	E9PLH7;P13591-1;P13591	.;.;NCAM1_HUMAN	V	598;716;181	ENSP00000318472:G716V	ENSP00000318472:G716V	G	+	2	0	NCAM1	112646165	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.579000	0.87056	0.563000	0.77884	GGC		0.582	NCAM1-201	KNOWN	basic	protein_coding	protein_coding		NM_000615		36	211	1	0	4.67007e-22	0.00874	6.41737e-22	36	211				
BACE1	23621	broad.mit.edu	37	11	117160510	117160510	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr11:117160510G>T	ENST00000313005.6	-	9	1738	c.1278C>A	c.(1276-1278)ttC>ttA	p.F426L	BACE1_ENST00000513780.1_Missense_Mutation_p.F401L|BACE1_ENST00000510630.1_Missense_Mutation_p.F301L|BACE1_ENST00000445823.2_Missense_Mutation_p.F382L|BACE1_ENST00000428381.2_Missense_Mutation_p.F357L|BACE1_ENST00000392937.6_Missense_Mutation_p.F326L|BACE1_ENST00000528053.1_Missense_Mutation_p.F392L	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	426					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)	p.F426L(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		CTGCCGTCCTGAACTcatcgt	0.488																																							uc001pqz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1276-1278)TTC>TTA		beta-site APP-cleaving enzyme 1 isoform A							106.0	94.0	98.0					11																	117160510		2201	4296	6497	SO:0001583	missense	23621				beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding	g.chr11:117160510G>T	AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"""beta-site APP-cleaving enzyme"""	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.1278C>A	11.37:g.117160510G>T	ENSP00000318585:p.Phe426Leu					BACE1_uc001pqw.2_Missense_Mutation_p.F401L|BACE1_uc001pqx.2_Missense_Mutation_p.F357L|BACE1_uc001pqy.2_Missense_Mutation_p.F382L|BACE1_uc010rxg.1_Missense_Mutation_p.F301L|BACE1_uc010rxh.1_Missense_Mutation_p.F326L|uc010rxi.1_5'Flank	p.F426L	NM_012104	NP_036236	P56817	BACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)	9	1739	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	426			Extracellular (Potential).		A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Missense_Mutation	SNP	ENST00000313005.6	37	c.1278C>A	CCDS8383.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.29|12.29	1.892986|1.892986	0.33442|0.33442	.|.	.|.	ENSG00000186318|ENSG00000186318	ENST00000313005;ENST00000392937;ENST00000528053;ENST00000510630;ENST00000428381;ENST00000513780;ENST00000445823|ENST00000292095	T;T;T;T;T;T|.	0.80909|.	-1.43;-1.43;-1.43;-1.43;-1.43;-1.43|.	5.47|5.47	4.56|4.56	0.56223|0.56223	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.42787|.	0.1218|.	L|L	0.27053|0.27053	0.805|0.805	0.53005|0.53005	D|D	0.999964|0.999964	B;B;B;B;P;B|.	0.38473|.	0.004;0.008;0.003;0.007;0.633;0.147|.	B;B;B;B;B;B|.	0.39258|.	0.009;0.008;0.004;0.032;0.295;0.056|.	T|.	0.28554|.	-1.0040|.	10|.	0.23891|0.02654	T|T	0.37|1	.|.	11.503|11.503	0.50448|0.50448	0.1493:0.0:0.8507:0.0|0.1493:0.0:0.8507:0.0	.|.	326;301;426;382;357;401|.	F8W807;E9PE65;P56817;P56817-3;P56817-4;P56817-2|.	.;.;BACE1_HUMAN;.;.;.|.	L|X	426;326;392;301;357;401;382|189	ENSP00000318585:F426L;ENSP00000431848:F392L;ENSP00000422461:F301L;ENSP00000402228:F357L;ENSP00000424536:F401L;ENSP00000403685:F382L|.	ENSP00000318585:F426L|ENSP00000292095:S189X	F|S	-|-	3|2	2|0	BACE1|BACE1	116665720|116665720	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.031000|2.031000	0.41117|0.41117	1.307000|1.307000	0.44944|0.44944	0.655000|0.655000	0.94253|0.94253	TTC|TCA		0.488	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1			11	53	1	0	0.000673444	0.008291	0.000747449	11	53				
GRIK4	2900	broad.mit.edu	37	11	120776031	120776031	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr11:120776031C>A	ENST00000527524.2	+	13	1592	c.1305C>A	c.(1303-1305)caC>caA	p.H435Q	GRIK4_ENST00000438375.2_Missense_Mutation_p.H435Q	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	435					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.H435Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		AGGGGAACCACCAGGAGATGG	0.542																																							uc001pxn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1303-1305)CAC>CAA		glutamate receptor KA1 precursor	L-Glutamic Acid(DB00142)						186.0	185.0	186.0					11																	120776031		2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120776031C>A	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1305C>A	11.37:g.120776031C>A	ENSP00000435648:p.His435Gln					GRIK4_uc009zav.1_Missense_Mutation_p.H435Q|GRIK4_uc009zaw.1_Missense_Mutation_p.H435Q|GRIK4_uc009zax.1_Missense_Mutation_p.H435Q	p.H435Q	NM_014619	NP_055434	Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	13	1592	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	435			Extracellular (Potential).		A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.1305C>A	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.936132	0.52972	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.76316	-1.01;-1.01	5.47	4.56	0.56223	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.048468	0.85682	D	0.000000	T	0.74809	0.3765	L	0.37850	1.14	0.51233	D	0.999913	P;P	0.48834	0.916;0.916	P;P	0.53102	0.718;0.718	T	0.71217	-0.4658	10	0.29301	T	0.29	.	8.827	0.35061	0.0:0.7221:0.0:0.2779	.	435;435	A6H8K8;Q16099	.;GRIK4_HUMAN	Q	435	ENSP00000435648:H435Q;ENSP00000404063:H435Q	ENSP00000404063:H435Q	H	+	3	2	GRIK4	120281241	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.398000	0.34554	1.300000	0.44818	0.655000	0.94253	CAC		0.542	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		12	225	1	0	1.05317e-09	0.00245	1.36372e-09	12	225				
LRTM2	654429	broad.mit.edu	37	12	1940363	1940363	+	Silent	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr12:1940363C>A	ENST00000543818.1	+	4	1172	c.330C>A	c.(328-330)tcC>tcA	p.S110S	CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000588077.1_Intron|LRTM2_ENST00000299194.1_Silent_p.S110S|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000535041.1_Silent_p.S110S	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	110						integral component of membrane (GO:0016021)		p.S110S(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			TGCCCCGCTCCATTTTCGGGG	0.617																																							uc001qjt.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(328-330)TCC>TCA		leucine-rich repeats and transmembrane domains 2							47.0	56.0	53.0					12																	1940363		2203	4300	6503	SO:0001819	synonymous_variant	654429					integral to membrane		g.chr12:1940363C>A	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.330C>A	12.37:g.1940363C>A						CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Silent_p.S110S|LRTM2_uc010sdx.1_Silent_p.S110S|LRTM2_uc001qjv.2_Intron	p.S110S	NM_001039029	NP_001034118	Q8N967	LRTM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		4	1136	+	Ovarian(42;0.107)		110			LRR 2.|Extracellular (Potential).		A7E2U6	Silent	SNP	ENST00000543818.1	37	c.330C>A	CCDS31726.1																																																																																				0.617	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1			6	76	1	0	5.18039e-06	0.00308	6.30385e-06	6	76				
C1S	716	broad.mit.edu	37	12	7177423	7177423	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr12:7177423C>T	ENST00000406697.1	+	15	2163	c.1535C>T	c.(1534-1536)cCg>cTg	p.P512L	C1S_ENST00000360817.5_Missense_Mutation_p.P512L|C1S_ENST00000328916.3_Missense_Mutation_p.P512L|C1S_ENST00000402681.3_Missense_Mutation_p.P345L|C1S_ENST00000495061.1_3'UTR			P09871	C1S_HUMAN	complement component 1, s subcomponent	512	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)	p.P512L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTTATTCATCCGGGATGGAAG	0.512																																					GBM(156;750 1943 12971 24779 31015)	GBM(156;750 1943 12971 24779 31015)	uc001qsj.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1534-1536)CCG>CTG		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						57.0	55.0	56.0					12																	7177423		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7177423C>T		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1535C>T	12.37:g.7177423C>T	ENSP00000385035:p.Pro512Leu					C1S_uc001qsk.2_Missense_Mutation_p.P512L|C1S_uc001qsl.2_Missense_Mutation_p.P512L|C1S_uc009zfr.2_Missense_Mutation_p.P345L|C1S_uc009zfs.2_RNA	p.P512L	NM_201442	NP_958850	P09871	C1S_HUMAN			15	2254	+			512			Peptidase S1.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.1535C>T	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304127	0.81136	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	5.16	4.23	0.50019	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.42172	D	0.000750	D	0.90714	0.7086	M	0.90082	3.085	0.58432	D	0.999999	D	0.76494	0.999	D	0.70487	0.969	D	0.92377	0.5910	10	0.87932	D	0	.	15.2043	0.73165	0.141:0.859:0.0:0.0	.	512	P09871	C1S_HUMAN	L	512;512;512;506;345	ENSP00000385035:P512L;ENSP00000328173:P512L;ENSP00000354057:P512L;ENSP00000384171:P345L	ENSP00000328173:P512L	P	+	2	0	C1S	7047684	0.998000	0.40836	0.940000	0.37924	0.816000	0.46133	4.126000	0.57937	2.676000	0.91093	0.561000	0.74099	CCG		0.512	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		3	28	0	0	0	0.004672	0	3	28				
C3AR1	719	broad.mit.edu	37	12	8211488	8211488	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr12:8211488G>C	ENST00000307637.4	-	2	1497	c.1294C>G	c.(1294-1296)Ccc>Gcc	p.P432A		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	432					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.P432A(1)		breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TAAAGGAAGGGATTAAAGCAA	0.478																																							uc001qtv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1294-1296)CCC>GCC		complement component 3a receptor 1							99.0	91.0	94.0					12																	8211488		2203	4300	6503	SO:0001583	missense	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8211488G>C	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.1294C>G	12.37:g.8211488G>C	ENSP00000302079:p.Pro432Ala						p.P432A	NM_004054	NP_004045	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	1386	-			432			Helical; Name=7; (Potential).		O43771|Q92868	Missense_Mutation	SNP	ENST00000307637.4	37	c.1294C>G	CCDS8588.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596608	0.86953	.	.	ENSG00000171860	ENST00000307637	D	0.98807	-5.15	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	D	0.99426	0.9797	H	0.96301	3.8	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.98444	1.0588	10	0.87932	D	0	.	16.4145	0.83729	0.0:0.0:1.0:0.0	.	432	Q16581	C3AR_HUMAN	A	432	ENSP00000302079:P432A	ENSP00000302079:P432A	P	-	1	0	C3AR1	8102755	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.564000	0.98151	2.746000	0.94184	0.655000	0.94253	CCC		0.478	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			8	109	0	0	0	0.00308	0	8	109				
DDX12P	440081	broad.mit.edu	37	12	9574030	9574030	+	IGR	SNP	T	T	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr12:9574030T>G								RP13-735L24.1 (23817 upstream) : SNORA75 (23623 downstream)														p.N669T(2)									TAGCGGCTGGTTGGAGACCCC	0.597																																							uc010sgs.1		NA																	2	Substitution - Missense(2)		urinary_tract(1)|prostate(1)		0						c.(2005-2007)AAC>ACC		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12							58.0	60.0	59.0					12																	9574030		692	1591	2283	SO:0001628	intergenic_variant	440081							g.chr12:9574030T>G																													12.37:g.9574030T>G						DDX12_uc001qvx.3_5'Flank|DDX12_uc001qvy.1_5'Flank	p.N669T	NM_004400	NP_004391					20	2201	-									Missense_Mutation	SNP		37	c.2006A>C																																																																																				0	0.597									8	89	0	0	0	0.00333	0	8	89				
GRIN2B	2904	broad.mit.edu	37	12	13717037	13717037	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr12:13717037C>G	ENST00000609686.1	-	13	3344	c.3135G>C	c.(3133-3135)aaG>aaC	p.K1045N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1045					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.K1045N(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGCGGTCGCTCTTGAAGGAGA	0.592																																							uc001rbt.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(3133-3135)AAG>AAC		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						66.0	55.0	59.0					12																	13717037		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717037C>G		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3135G>C	12.37:g.13717037C>G	ENSP00000477455:p.Lys1045Asn						p.K1045N	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			13	3314	-			1045			Cytoplasmic (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.3135G>C	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620316	0.66787	.	.	ENSG00000150086	ENST00000279593	T	0.25414	1.8	5.57	5.57	0.84162	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.127889	0.52532	D	0.000068	T	0.51381	0.1671	M	0.68317	2.08	0.80722	D	1	D	0.67145	0.996	D	0.68353	0.957	T	0.51156	-0.8741	10	0.72032	D	0.01	.	19.555	0.95342	0.0:1.0:0.0:0.0	.	1045	Q13224	NMDE2_HUMAN	N	1045	ENSP00000279593:K1045N	ENSP00000279593:K1045N	K	-	3	2	GRIN2B	13608304	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.969000	0.56816	2.633000	0.89246	0.650000	0.86243	AAG		0.592	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			5	60	0	0	0	0.000602	0	5	60				
C2CD5	9847	broad.mit.edu	37	12	22688245	22688245	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr12:22688245C>A	ENST00000333957.4	-	3	379	c.124G>T	c.(124-126)Gtg>Ttg	p.V42L	C2CD5_ENST00000536386.1_Missense_Mutation_p.V42L|C2CD5_ENST00000446597.1_Missense_Mutation_p.V42L|C2CD5_ENST00000542676.1_Missense_Mutation_p.V42L|C2CD5_ENST00000544930.1_5'UTR|C2CD5_ENST00000545552.1_Missense_Mutation_p.V42L|C2CD5_ENST00000396028.2_Missense_Mutation_p.V42L	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	42	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.V42L(1)									TTAAGGTACACATCTGTTTTA	0.284																																							uc001rfq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(124-126)GTG>TTG		hypothetical protein LOC9847							53.0	51.0	52.0					12																	22688245		2202	4299	6501	SO:0001583	missense	9847						protein binding	g.chr12:22688245C>A	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.124G>T	12.37:g.22688245C>A	ENSP00000334229:p.Val42Leu					KIAA0528_uc010sir.1_5'UTR|KIAA0528_uc010sis.1_Missense_Mutation_p.V42L|KIAA0528_uc010sit.1_Missense_Mutation_p.V42L|KIAA0528_uc010siu.1_Missense_Mutation_p.V42L|KIAA0528_uc001rfr.2_Missense_Mutation_p.V42L|KIAA0528_uc009ziy.1_Missense_Mutation_p.V42L	p.V42L	NM_014802	NP_055617	Q86YS7	K0528_HUMAN			3	352	-			42			C2.		B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.124G>T	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	C	34	5.308321	0.95629	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552	T;T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92	5.52	5.52	0.82312	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.92489	0.7615	H	0.98738	4.315	0.80722	D	1	D;D;D;D;D	0.76494	0.997;0.983;0.997;0.999;0.983	D;D;D;D;D	0.80764	0.973;0.962;0.976;0.994;0.962	D	0.94994	0.8137	10	0.72032	D	0.01	-15.1383	19.8074	0.96536	0.0:1.0:0.0:0.0	.	42;42;42;42;42	F5H2A1;B4DRN7;B7ZLL0;Q86YS7-2;Q86YS7	.;.;.;.;K0528_HUMAN	L	42	ENSP00000334229:V42L;ENSP00000388756:V42L;ENSP00000439392:V42L;ENSP00000379345:V42L;ENSP00000441951:V42L;ENSP00000443204:V42L	ENSP00000334229:V42L	V	-	1	0	KIAA0528	22579512	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.602000	0.82796	2.755000	0.94549	0.555000	0.69702	GTG		0.284	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		4	30	1	0	0.00116845	0.001168	0.00128976	4	30				
ARHGAP9	64333	broad.mit.edu	37	12	57872486	57872486	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr12:57872486C>A	ENST00000356411.2	-	3	509	c.371G>T	c.(370-372)aGg>aTg	p.R124M	ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R124M|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R203M|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.R195M|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R124M|ARHGAP9_ENST00000430041.2_5'Flank			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	124					positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.R124M(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AGCCTGAGCCCTGCTTGGGAG	0.582																																							uc001sod.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(583-585)AGG>ATG		Rho GTPase activating protein 9 isoform 1							70.0	67.0	68.0					12																	57872486		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57872486C>A	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.371G>T	12.37:g.57872486C>A	ENSP00000348782:p.Arg124Met					ARHGAP9_uc001snz.2_5'Flank|ARHGAP9_uc001soa.2_5'Flank|ARHGAP9_uc001sob.2_Missense_Mutation_p.R124M|ARHGAP9_uc001soc.2_Missense_Mutation_p.R124M|ARHGAP9_uc001soe.1_Missense_Mutation_p.R203M|ARHGAP9_uc010sro.1_Missense_Mutation_p.R124M	p.R195M	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		6	777	-			124					B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.584G>T		.	.	.	.	.	.	.	.	.	.	C	7.721	0.697285	0.15106	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000552249	T;T;T;T;T	0.57107	3.03;3.04;1.68;3.0;0.42	3.69	0.39	0.16275	.	0.831057	0.10466	N	0.671344	T	0.45357	0.1338	L	0.53249	1.67	0.09310	N	1	P;P;B;P;B	0.46277	0.875;0.79;0.41;0.545;0.41	P;B;B;B;B	0.44732	0.459;0.205;0.28;0.264;0.095	T	0.38478	-0.9659	10	0.52906	T	0.07	.	2.1854	0.03885	0.1965:0.4959:0.1918:0.1157	.	124;203;124;124;124	B4E248;Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9	.;.;RHG09_HUMAN;.;.	M	124;124;124;195;173;42	ENSP00000377380:R124M;ENSP00000348782:R124M;ENSP00000394307:R124M;ENSP00000377386:R195M;ENSP00000448358:R42M	ENSP00000344852:R173M	R	-	2	0	ARHGAP9	56158753	0.005000	0.15991	0.251000	0.24312	0.138000	0.21146	0.100000	0.15231	0.334000	0.23590	0.655000	0.94253	AGG		0.582	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		22	112	1	0	1.22574e-08	0.014323	1.57706e-08	22	112				
MARS	4141	broad.mit.edu	37	12	57910304	57910304	+	Silent	SNP	A	A	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr12:57910304A>G	ENST00000262027.5	+	21	2777	c.2643A>G	c.(2641-2643)aaA>aaG	p.K881K	MIR616_ENST00000385293.1_RNA|RN7SL312P_ENST00000582079.1_RNA	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	881	WHEP-TRS.				gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)	p.K881K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	ATCTAAAGAAACAGTTGGCTG	0.458																																							uc001sog.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(2641-2643)AAA>AAG		methionyl-tRNA synthetase	L-Methionine(DB00134)						65.0	63.0	64.0					12																	57910304		2203	4300	6503	SO:0001819	synonymous_variant	4141				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	g.chr12:57910304A>G	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.2643A>G	12.37:g.57910304A>G						MARS_uc001sof.1_RNA|MARS_uc001soh.1_3'UTR	p.K881K	NM_004990	NP_004981	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)		21	2666	+			881			WHEP-TRS.		B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Silent	SNP	ENST00000262027.5	37	c.2643A>G	CCDS8942.1	.	.	.	.	.	.	.	.	.	.	A	14.14	2.447811	0.43429	.	.	ENSG00000166986	ENST00000548944	.	.	.	5.47	0.485	0.16830	.	.	.	.	.	T	0.62962	0.2471	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63189	-0.6693	5	0.87932	D	0	-15.6309	8.6359	0.33948	0.6495:0.0:0.3505:0.0	.	.	.	.	A	54	.	ENSP00000449071:T54A	T	+	1	0	MARS	56196571	0.986000	0.35501	1.000000	0.80357	0.954000	0.61252	0.293000	0.19029	0.126000	0.18424	0.459000	0.35465	ACA		0.458	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		5	42	0	0	0	0.000602	0	5	42				
SLC16A7	9194	broad.mit.edu	37	12	60168856	60168856	+	Silent	SNP	T	T	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr12:60168856T>C	ENST00000261187.4	+	4	944	c.780T>C	c.(778-780)ggT>ggC	p.G260G	SLC16A7_ENST00000543448.1_Silent_p.G161G|SLC16A7_ENST00000547379.1_Silent_p.G260G|SLC16A7_ENST00000552024.1_Silent_p.G260G|SLC16A7_ENST00000552432.1_Silent_p.G260G	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	260					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.G260G(1)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	TGTTCCTAGGTTTTTTTGCCC	0.353																																							uc001sqs.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(778-780)GGT>GGC		solute carrier family 16, member 7	Pyruvic acid(DB00119)						84.0	82.0	83.0					12																	60168856		2203	4300	6503	SO:0001819	synonymous_variant	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60168856T>C	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.780T>C	12.37:g.60168856T>C						SLC16A7_uc001sqt.2_Silent_p.G260G|SLC16A7_uc001squ.2_Silent_p.G260G|SLC16A7_uc009zqi.2_Silent_p.G161G|SLC16A7_uc010ssi.1_Silent_p.G161G	p.G260G	NM_004731	NP_004722	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	5	1079	+			260			Helical; (Potential).		Q8NEM3|Q9UPB3	Silent	SNP	ENST00000261187.4	37	c.780T>C	CCDS8961.1																																																																																				0.353	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		6	300	0	0	0	0.001984	0	6	300				
IFNG	3458	broad.mit.edu	37	12	68549203	68549203	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr12:68549203G>A	ENST00000229135.3	-	4	562	c.431C>T	c.(430-432)tCg>tTg	p.S144L	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	144					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell cycle arrest (GO:0007050)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to interleukin-18 (GO:0071351)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|extrinsic apoptotic signaling pathway (GO:0097191)|humoral immune response (GO:0006959)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of myelination (GO:0031642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil apoptotic process (GO:0001781)|neutrophil chemotaxis (GO:0030593)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity (GO:0060550)|positive regulation of fructose 1,6-bisphosphate metabolic process (GO:0060552)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|regulation of insulin secretion (GO:0050796)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of the force of heart contraction (GO:0002026)|response to drug (GO:0042493)|response to virus (GO:0009615)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|interferon-gamma receptor binding (GO:0005133)	p.S144L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Olsalazine(DB01250)	AGCTGCTGGCGACAGTTCAGC	0.433																																							uc001stw.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(430-432)TCG>TTG		interferon, gamma precursor	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)						118.0	94.0	102.0					12																	68549203		2203	4300	6503	SO:0001583	missense	3458				cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding	g.chr12:68549203G>A		CCDS8980.1	12q14	2007-10-17			ENSG00000111537	ENSG00000111537		"""Interferons"""	5438	protein-coding gene	gene with protein product		147570					Standard	NM_000619		Approved		uc001stw.1	P01579	OTTHUMG00000169113	ENST00000229135.3:c.431C>T	12.37:g.68549203G>A	ENSP00000229135:p.Ser144Leu						p.S144L	NM_000619	NP_000610	P01579	IFNG_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	4	557	-			144					B5BU88|Q53ZV4	Missense_Mutation	SNP	ENST00000229135.3	37	c.431C>T	CCDS8980.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.358885	0.41801	.	.	ENSG00000111537	ENST00000229135	T	0.51817	0.69	4.82	0.833	0.18875	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.724340	0.02849	N	0.128903	T	0.46600	0.1401	M	0.64404	1.975	0.09310	N	1	B	0.24882	0.113	B	0.20767	0.031	T	0.23154	-1.0196	9	.	.	.	-19.3983	8.3309	0.32187	0.3106:0.0:0.6894:0.0	.	144	P01579	IFNG_HUMAN	L	144	ENSP00000229135:S144L	.	S	-	2	0	IFNG	66835470	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.213000	0.17521	0.035000	0.15519	-0.140000	0.14226	TCG		0.433	IFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402301.1			156	24	0	0	0	0.01441	0	156	24				
NUP107	57122	broad.mit.edu	37	12	69115726	69115726	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr12:69115726G>A	ENST00000229179.4	+	16	1749	c.1417G>A	c.(1417-1419)Gat>Aat	p.D473N	NUP107_ENST00000378905.2_Missense_Mutation_p.D322N|NUP107_ENST00000539906.1_Missense_Mutation_p.D444N	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	473					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)	p.D473N(1)	NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AGCAACTCTGGATGAAACTGA	0.463																																							uc001suf.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1417-1419)GAT>AAT		nucleoporin 107kDa							115.0	115.0	115.0					12																	69115726		2203	4300	6503	SO:0001583	missense	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69115726G>A	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.1417G>A	12.37:g.69115726G>A	ENSP00000229179:p.Asp473Asn					NUP107_uc001sug.2_Missense_Mutation_p.D320N|NUP107_uc010stj.1_Missense_Mutation_p.D444N	p.D473N	NM_020401	NP_065134	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		16	1532	+	Breast(13;6.25e-06)		473					B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	c.1417G>A	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734091	0.30684	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.13	4.24	0.50183	.	0.367763	0.34156	N	0.004204	T	0.25232	0.0613	N	0.08118	0	0.33436	D	0.581828	B;B;B	0.14012	0.001;0.009;0.001	B;B;B	0.17098	0.003;0.017;0.003	T	0.27331	-1.0077	8	.	.	.	-7.3216	9.9979	0.41911	0.1542:0.0:0.8458:0.0	.	444;322;473	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	N	473;322;444	.	.	D	+	1	0	NUP107	67401993	1.000000	0.71417	0.795000	0.32087	0.957000	0.61999	3.322000	0.52007	1.322000	0.45245	0.455000	0.32223	GAT		0.463	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		8	299	0	0	0	0.00308	0	8	299				
FRS2	10818	broad.mit.edu	37	12	69965138	69965138	+	Silent	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr12:69965138G>A	ENST00000550389.1	+	5	582	c.336G>A	c.(334-336)gtG>gtA	p.V112V	FRS2_ENST00000549921.1_Silent_p.V112V|FRS2_ENST00000299293.2_Silent_p.V112V|FRS2_ENST00000397997.2_Silent_p.V112V	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	112	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.V112V(2)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GTATAAATGTGGTGGAAGAGC	0.368											OREG0021986	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001suy.2		NA																	2	Substitution - coding silent(2)		lung(2)	prostate(1)|kidney(1)	2						c.(334-336)GTG>GTA		fibroblast growth factor receptor substrate 2							94.0	88.0	90.0					12																	69965138		1850	4088	5938	SO:0001819	synonymous_variant	10818				activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr12:69965138G>A	AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.336G>A	12.37:g.69965138G>A			OREG0021986	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1118	FRS2_uc001suz.2_Silent_p.V112V|FRS2_uc009zrj.2_Silent_p.V112V|FRS2_uc009zrk.2_Silent_p.V112V	p.V112V	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		8	846	+	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		112			IRS-type PTB.		B0LPF2|B2R684|O43558|Q7LDQ6	Silent	SNP	ENST00000550389.1	37	c.336G>A	CCDS41809.1																																																																																				0.368	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403760.1	NM_006654		17	426	0	0	0	0.004007	0	17	426				
TPCN1	53373	broad.mit.edu	37	12	113704105	113704105	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr12:113704105C>A	ENST00000335509.6	+	4	672	c.358C>A	c.(358-360)Ctg>Atg	p.L120M	TPCN1_ENST00000392569.4_Missense_Mutation_p.L52M|TPCN1_ENST00000541517.1_Missense_Mutation_p.L192M|TPCN1_ENST00000550785.1_Missense_Mutation_p.L192M	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	120					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)	p.L120M(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CCTGCTGCTGCTGCTGCTCTC	0.652																																							uc001tuw.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(358-360)CTG>ATG		two pore segment channel 1 isoform 2							207.0	214.0	211.0					12																	113704105		2203	4300	6503	SO:0001583	missense	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113704105C>A	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.358C>A	12.37:g.113704105C>A	ENSP00000335300:p.Leu120Met					TPCN1_uc001tux.2_Missense_Mutation_p.L192M|TPCN1_uc010syt.1_Missense_Mutation_p.L52M	p.L120M	NM_017901	NP_060371	Q9ULQ1	TPC1_HUMAN			4	655	+			120			Helical; Name=S1 of repeat I; (Potential).		A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	37	c.358C>A	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661261	0.47572	.	.	ENSG00000186815	ENST00000552642;ENST00000552985;ENST00000335509;ENST00000552897;ENST00000550785;ENST00000541517;ENST00000392569;ENST00000552542;ENST00000548465	T;D;D;D;D	0.97870	0.23;-4.46;-4.58;-4.58;-4.46	5.29	4.4	0.53042	.	0.130050	0.51477	D	0.000091	D	0.95370	0.8497	N	0.25245	0.725	0.39602	D	0.969754	P;P;P	0.52463	0.802;0.953;0.919	B;P;B	0.47470	0.122;0.548;0.327	D	0.95442	0.8526	10	0.54805	T	0.06	-16.0345	14.0337	0.64632	0.0:0.9269:0.0:0.0731	.	120;192;120	A5PKY2;Q9ULQ1-3;Q9ULQ1	.;.;TPC1_HUMAN	M	96;206;120;52;192;192;52;52;52	ENSP00000447569:L206M;ENSP00000335300:L120M;ENSP00000448083:L192M;ENSP00000438125:L192M;ENSP00000376350:L52M	ENSP00000335300:L120M	L	+	1	2	TPCN1	112188488	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.912000	0.48782	1.228000	0.43614	0.561000	0.74099	CTG		0.652	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		60	326	1	0	6.26901e-30	0.01441	8.79403e-30	60	326				
DNAH10	196385	broad.mit.edu	37	12	124311323	124311323	+	Silent	SNP	C	C	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr12:124311323C>G	ENST00000409039.3	+	24	3940	c.3915C>G	c.(3913-3915)ctC>ctG	p.L1305L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1305	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L1305L(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCAGGGCTCTCAGAAAGCTAC	0.453																																							uc001uft.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(3913-3915)CTC>CTG		dynein, axonemal, heavy chain 10							137.0	133.0	134.0					12																	124311323		1881	4110	5991	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124311323C>G	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3915C>G	12.37:g.124311323C>G							p.L1305L	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	24	3940	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1305			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.3915C>G	CCDS9255.2																																																																																				0.453	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			3	112	0	0	0	0.004672	0	3	112				
ATP11A	23250	broad.mit.edu	37	13	113474218	113474218	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr13:113474218G>A	ENST00000487903.1	+	8	767	c.679G>A	c.(679-681)Gtg>Atg	p.V227M	ATP11A_ENST00000375630.2_Missense_Mutation_p.V227M|ATP11A_ENST00000375645.3_Missense_Mutation_p.V227M|ATP11A_ENST00000283558.8_Missense_Mutation_p.V227M			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	227					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.V227M(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CGCCAGGTTCGTGGGTCGCAT	0.627																																							uc001vsi.3		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)	4						c.(679-681)GTG>ATG		ATPase, class VI, type 11A isoform a							128.0	90.0	103.0					13																	113474218		2203	4300	6503	SO:0001583	missense	23250				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.chr13:113474218G>A	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.679G>A	13.37:g.113474218G>A	ENSP00000420387:p.Val227Met					ATP11A_uc001vsj.3_Missense_Mutation_p.V227M|ATP11A_uc001vsm.1_Missense_Mutation_p.V103M	p.V227M	NM_015205	NP_056020	P98196	AT11A_HUMAN			8	767	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	227			Cytoplasmic (Potential).		Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.679G>A	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.420387	0.25552	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.87	4.87	0.63330	ATPase, P-type, ATPase-associated domain (1);	0.198654	0.43110	D	0.000619	T	0.57710	0.2072	L	0.57536	1.79	0.54753	D	0.999989	D;P;B	0.71674	0.998;0.615;0.066	D;B;B	0.69307	0.963;0.227;0.096	T	0.54675	-0.8258	10	0.36615	T	0.2	.	13.8794	0.63674	0.0:0.0:1.0:0.0	.	227;227;227	E9PCW5;E9PEJ6;P98196	.;.;AT11A_HUMAN	M	227	ENSP00000420387:V227M;ENSP00000364781:V227M;ENSP00000364796:V227M;ENSP00000283558:V227M	ENSP00000283558:V227M	V	+	1	0	ATP11A	112522219	1.000000	0.71417	0.712000	0.30502	0.002000	0.02628	6.506000	0.73712	2.406000	0.81754	0.591000	0.81541	GTG		0.627	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		3	38	0	0	0	0.009096	0	3	38				
PTGR2	145482	broad.mit.edu	37	14	74345977	74345977	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr14:74345977G>T	ENST00000555661.1	+	6	843	c.698G>T	c.(697-699)gGt>gTt	p.G233V	PTGR2_ENST00000555228.1_Missense_Mutation_p.G233V|PTGR2_ENST00000267568.4_Missense_Mutation_p.G233V|RP5-1021I20.4_ENST00000556551.2_Intron|PTGR2_ENST00000553813.1_Missense_Mutation_p.G99V			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	233					prostaglandin metabolic process (GO:0006693)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)	p.G233V(1)		NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9					Indomethacin(DB00328)	GACAATGTTGGTGGTAACATC	0.358																																					Esophageal Squamous(98;1155 1417 16452 47043 47872)	Esophageal Squamous(98;1155 1417 16452 47043 47872)	uc001xow.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(697-699)GGT>GTT		prostaglandin reductase 2							161.0	152.0	155.0					14																	74345977		2203	4300	6503	SO:0001583	missense	145482				prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding	g.chr14:74345977G>T	AK096410	CCDS9820.1	14q24.1-q24.2	2008-06-04	2008-06-02	2008-06-03		ENSG00000140043			20149	protein-coding gene	gene with protein product		608642	"""zinc binding alcohol dehydrogenase domain containing 1"""	ZADH1		17449869	Standard	NM_152444		Approved	FLJ39091	uc001xow.3	Q8N8N7		ENST00000555661.1:c.698G>T	14.37:g.74345977G>T	ENSP00000452280:p.Gly233Val					PTGR2_uc010tue.1_Missense_Mutation_p.G233V|PTGR2_uc001xox.2_Missense_Mutation_p.G233V|ZNF410_uc001xoy.1_Intron	p.G233V	NM_001146154	NP_001139626	Q8N8N7	PTGR2_HUMAN			6	858	+			233					Q3L8A4|Q6MZH8	Missense_Mutation	SNP	ENST00000555661.1	37	c.698G>T	CCDS9820.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712961	0.89112	.	.	ENSG00000140043;ENSG00000140043;ENSG00000140043;ENSG00000140043;ENSG00000258653	ENST00000555228;ENST00000555661;ENST00000267568;ENST00000554885;ENST00000553813	T;T;T;T;T	0.10477	2.87;2.87;2.87;2.87;2.87	5.52	5.52	0.82312	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.57784	0.2077	H	0.99752	4.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79165	-0.1916	10	0.87932	D	0	-15.2944	19.4489	0.94859	0.0:0.0:1.0:0.0	.	233	Q8N8N7	PTGR2_HUMAN	V	233;233;233;184;99	ENSP00000450975:G233V;ENSP00000452280:G233V;ENSP00000267568:G233V;ENSP00000451158:G184V;ENSP00000450824:G99V	ENSP00000267568:G233V	G	+	2	0	RP5-1021I20.4;PTGR2	73415730	1.000000	0.71417	0.973000	0.42090	0.975000	0.68041	9.338000	0.96553	2.583000	0.87209	0.655000	0.94253	GGT		0.358	PTGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412575.1			20	140	1	0	2.32416e-17	0.014323	3.17216e-17	20	140				
SEMA6D	80031	broad.mit.edu	37	15	48063639	48063639	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr15:48063639G>T	ENST00000316364.5	+	19	3318	c.2879G>T	c.(2878-2880)aGa>aTa	p.R960I	SEMA6D_ENST00000389433.2_Missense_Mutation_p.R941I|SEMA6D_ENST00000358066.4_Missense_Mutation_p.R898I|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000558014.1_Missense_Mutation_p.R898I|SEMA6D_ENST00000389432.2_Missense_Mutation_p.R917I|SEMA6D_ENST00000354744.4_Missense_Mutation_p.R904I|SEMA6D_ENST00000536845.2_Missense_Mutation_p.R960I|SEMA6D_ENST00000389428.3_Missense_Mutation_p.R885I|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000537942.1_Missense_Mutation_p.R898I	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	960					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R960I(1)|p.R898I(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TCTCTGGAAAGACAAAGAGGT	0.468																																							uc010bek.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|breast(1)	4						c.(2878-2880)AGA>ATA		semaphorin 6D isoform 4 precursor							93.0	99.0	97.0					15																	48063639		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48063639G>T	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2879G>T	15.37:g.48063639G>T	ENSP00000324857:p.Arg960Ile					SEMA6D_uc001zvw.2_Missense_Mutation_p.R898I|SEMA6D_uc001zvy.2_Missense_Mutation_p.R960I|SEMA6D_uc001zvz.2_Missense_Mutation_p.R904I|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.R898I|SEMA6D_uc001zwc.2_Missense_Mutation_p.R885I	p.R960I	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	19	3239	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	960			Cytoplasmic (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.2879G>T	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.582286	0.46006	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428	T;T;T;T;T;T;T;T	0.21543	2.0;2.11;2.11;2.08;2.0;2.0;2.0;2.01	5.8	5.8	0.92144	.	0.506861	0.20850	N	0.084549	T	0.29256	0.0728	L	0.36672	1.1	0.80722	D	1	P;P;D;P	0.53619	0.841;0.813;0.961;0.92	B;B;P;P	0.52957	0.408;0.353;0.714;0.493	T	0.00357	-1.1792	10	0.46703	T	0.11	.	15.5384	0.76021	0.0:0.1373:0.8627:0.0	.	885;904;960;898	Q8NFY4-3;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;SEM6D_HUMAN;.	I	898;960;960;941;917;904;898;885	ENSP00000442040:R898I;ENSP00000446152:R960I;ENSP00000324857:R960I;ENSP00000374084:R941I;ENSP00000374083:R917I;ENSP00000346786:R904I;ENSP00000350770:R898I;ENSP00000374079:R885I	ENSP00000324857:R960I	R	+	2	0	SEMA6D	45850931	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.513000	0.81739	2.758000	0.94735	0.563000	0.77884	AGA		0.468	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		14	89	1	0	4.3838e-07	0.001855	5.46622e-07	14	89				
CGNL1	84952	broad.mit.edu	37	15	57730535	57730535	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr15:57730535C>A	ENST00000281282.5	+	2	416	c.338C>A	c.(337-339)cCa>cAa	p.P113Q		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	113	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)	p.P113Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CAGCCTAGCCCAATAAGAAAC	0.488																																							uc002aeg.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(4)|central_nervous_system(1)	11						c.(337-339)CCA>CAA		cingulin-like 1							42.0	45.0	44.0					15																	57730535		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57730535C>A	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.338C>A	15.37:g.57730535C>A	ENSP00000281282:p.Pro113Gln					CGNL1_uc010bfw.2_Missense_Mutation_p.P113Q	p.P113Q	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	2	414	+			113			Head.		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.338C>A	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	C	2.490	-0.317539	0.05386	.	.	ENSG00000128849	ENST00000281282	T	0.80909	-1.43	4.64	3.72	0.42706	.	1.516220	0.04069	N	0.307641	T	0.77678	0.4166	L	0.56769	1.78	0.09310	N	1	P	0.34780	0.468	B	0.32864	0.154	T	0.64424	-0.6411	10	0.59425	D	0.04	-5.7758	5.9681	0.19336	0.1702:0.691:0.0:0.1388	.	113	Q0VF96	CGNL1_HUMAN	Q	113	ENSP00000281282:P113Q	ENSP00000281282:P113Q	P	+	2	0	CGNL1	55517827	0.001000	0.12720	0.003000	0.11579	0.001000	0.01503	1.049000	0.30392	1.160000	0.42584	-0.175000	0.13238	CCA		0.488	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		5	52	1	0	3.59834e-05	0.001168	4.25067e-05	5	52				
ACAN	176	broad.mit.edu	37	15	89382197	89382197	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr15:89382197C>T	ENST00000561243.1	+	2	374	c.374C>T	c.(373-375)tCc>tTc	p.S125F	ACAN_ENST00000439576.2_Missense_Mutation_p.S125F|ACAN_ENST00000558207.1_Missense_Mutation_p.S125F|ACAN_ENST00000559004.1_Missense_Mutation_p.S125F|ACAN_ENST00000352105.7_Missense_Mutation_p.S125F			P16112	PGCA_HUMAN	aggrecan	125	G1-A.|Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.S125F(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGCCTGCGCTCCAATGACTCT	0.627																																							uc010upo.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(373-375)TCC>TTC		aggrecan isoform 2 precursor							113.0	129.0	124.0					15																	89382197		2141	4254	6395	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89382197C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.374C>T	15.37:g.89382197C>T	ENSP00000453342:p.Ser125Phe					ACAN_uc002bmx.2_Missense_Mutation_p.S125F|ACAN_uc010upp.1_Missense_Mutation_p.S125F|ACAN_uc002bna.2_RNA	p.S125F	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		3	748	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		125					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.374C>T	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241997	0.58995	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.66280	-0.2;-0.2	5.36	4.45	0.53987	.	.	.	.	.	T	0.78046	0.4222	M	0.78801	2.425	0.45129	D	0.998145	B;B;D	0.67145	0.29;0.29;0.996	B;B;D	0.72982	0.169;0.169;0.979	T	0.81113	-0.1080	9	0.72032	D	0.01	-12.4524	13.4352	0.61079	0.0:0.9241:0.0:0.0759	.	125;125;125	E7ENV9;E7EX88;Q6PID9	.;.;.	F	125	ENSP00000387356:S125F;ENSP00000341615:S125F	ENSP00000268134:S125F	S	+	2	0	ACAN	87183201	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.703000	0.61824	1.419000	0.47118	-0.229000	0.12294	TCC		0.627	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		5	123	0	0	0	0.001168	0	5	123				
WDR90	197335	broad.mit.edu	37	16	716508	716508	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr16:716508C>G	ENST00000293879.4	+	38	4794	c.4794C>G	c.(4792-4794)gaC>gaG	p.D1598E	WDR90_ENST00000549091.1_Missense_Mutation_p.D1600E|WDR90_ENST00000547543.1_3'UTR|RHOT2_ENST00000315082.4_5'Flank|WDR90_ENST00000315764.4_Intron|WDR90_ENST00000547944.1_Missense_Mutation_p.D197E			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1598								p.D1598E(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCAGTGGGGACCAGCGGGTCA	0.612																																							uc002cii.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(4792-4794)GAC>GAG		WD repeat domain 90							28.0	39.0	35.0					16																	716508		2074	4191	6265	SO:0001583	missense	197335							g.chr16:716508C>G	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.4794C>G	16.37:g.716508C>G	ENSP00000293879:p.Asp1598Glu					WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_RNA|WDR90_uc002cin.1_Missense_Mutation_p.D213E|WDR90_uc010uul.1_Intron|WDR90_uc002cio.1_Missense_Mutation_p.D197E|WDR90_uc010bqx.1_Intron|RHOT2_uc010uum.1_5'Flank|RHOT2_uc002cip.2_5'Flank|RHOT2_uc002ciq.2_5'Flank	p.D1598E	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			38	4848	+		Hepatocellular(780;0.0218)	1598			WD 20.		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.4794C>G	CCDS42092.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.066325|4.066325	0.76187|0.76187	.|.	.|.	ENSG00000161996|ENSG00000161996	ENST00000549091;ENST00000293879;ENST00000547944|ENST00000551100	T;T;T|.	0.75050|.	1.34;1.35;-0.9|.	4.49|4.49	2.52|2.52	0.30459|0.30459	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.396718|.	0.28647|.	N|.	0.014620|.	T|T	0.74351|0.74351	0.3705|0.3705	M|M	0.86740|0.86740	2.835|2.835	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.79108|.	0.983;0.992|.	T|T	0.74850|0.74850	-0.3524|-0.3524	10|5	0.54805|.	T|.	0.06|.	.|.	8.9011|8.9011	0.35495|0.35495	0.0:0.8188:0.0:0.1812|0.0:0.8188:0.0:0.1812	.|.	197;1598|.	G3V201;Q96KV7|.	.;WDR90_HUMAN|.	E|A	1600;1598;197|5	ENSP00000448122:D1600E;ENSP00000293879:D1598E;ENSP00000449576:D197E|.	ENSP00000293879:D1598E|.	D|P	+|+	3|1	2|0	WDR90|WDR90	656509|656509	1.000000|1.000000	0.71417|0.71417	0.891000|0.891000	0.34965|0.34965	0.996000|0.996000	0.88848|0.88848	0.817000|0.817000	0.27281|0.27281	0.882000|0.882000	0.36016|0.36016	0.561000|0.561000	0.74099|0.74099	GAC|CCA		0.612	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		7	49	0	0	0	0.00308	0	7	49				
PTX4	390667	broad.mit.edu	37	16	1536062	1536062	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr16:1536062C>G	ENST00000447419.2	-	3	1340	c.1315G>C	c.(1315-1317)Gtt>Ctt	p.V439L	PTX4_ENST00000440447.2_3'UTR|PTX4_ENST00000293922.1_Missense_Mutation_p.V434L			Q96A99	PTX4_HUMAN	pentraxin 4, long	439	Pentaxin.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)	p.V434L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						AGGTTTGCAACTTCCCCGGGA	0.622																																							uc010uvf.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1300-1302)GTT>CTT		neuronal pentraxin II-like							72.0	71.0	71.0					16																	1536062		2199	4300	6499	SO:0001583	missense	390667					extracellular region	metal ion binding	g.chr16:1536062C>G		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.1315G>C	16.37:g.1536062C>G	ENSP00000445277:p.Val439Leu						p.V434L	NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN			3	1300	-			439			Pentaxin.			Missense_Mutation	SNP	ENST00000447419.2	37	c.1300G>C		.	.	.	.	.	.	.	.	.	.	C	13.00	2.105114	0.37145	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.66460	-0.21;-0.21	5.21	4.26	0.50523	.	0.075902	0.51477	D	0.000100	T	0.68595	0.3018	L	0.53671	1.685	0.48395	D	0.999643	P	0.45986	0.87	P	0.49477	0.612	T	0.71384	-0.4609	10	0.72032	D	0.01	.	11.6306	0.51173	0.0:0.9127:0.0:0.0873	.	434	Q96A99-2	.	L	439;434	ENSP00000445277:V439L;ENSP00000293922:V434L	ENSP00000293922:V434L	V	-	1	0	PTX4	1476063	0.998000	0.40836	0.039000	0.18376	0.006000	0.05464	2.365000	0.44196	1.215000	0.43411	0.563000	0.77884	GTT		0.622	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		13	25	0	0	0	0.001855	0	13	25				
OR1F2P	26184	broad.mit.edu	37	16	3265972	3265972	+	RNA	SNP	G	G	A	rs370515644		TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr16:3265972G>A	ENST00000576468.1	+	0	418																											GCCTATGACCGCTTTGTCGCC	0.512													g|||	1	0.000199681	0.0008	0.0	5008	,	,		23334	0.0		0.0	False		,,,				2504	0.0						uc010uwv.1		NA																	0					0						c.(262-264)CGC>CAC		RecName: Full=Olfactory receptor 1F2; AltName: Full=OLFmf2;																																						26184							g.chr16:3265972G>A																													16.37:g.3265972G>A							p.R88H	NR_002169						1	411	+									Missense_Mutation	SNP	ENST00000576468.1	37	c.263G>A																																																																																					0.512	AJ003147.9-001	KNOWN	basic	antisense	antisense	OTTHUMT00000437543.1			16	61	0	0	0	0.004007	0	16	61				
MYH11	4629	broad.mit.edu	37	16	15797975	15797975	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr16:15797975C>T	ENST00000300036.5	-	41	5901	c.5792G>A	c.(5791-5793)gGa>gAa	p.G1931E	MYH11_ENST00000576790.2_3'UTR|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.G1938E|MYH11_ENST00000452625.2_3'UTR|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000573908.1_5'UTR|NDE1_ENST00000342673.5_Intron	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1931					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)	p.G1938E(1)		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						GGTCTCGTTTCCTCGCCTGTG	0.403			T	CBFB	AML																																		uc002ddy.2		NA		Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(5791-5793)GGA>GAA		smooth muscle myosin heavy chain 11 isoform							135.0	127.0	129.0					16																	15797975		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.chr16:15797975C>T	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.5792G>A	16.37:g.15797975C>T	ENSP00000300036:p.Gly1931Glu					MYH11_uc002ddv.2_3'UTR|MYH11_uc002ddw.2_3'UTR|MYH11_uc002ddx.2_Missense_Mutation_p.G1938E|MYH11_uc010bvg.2_3'UTR|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron	p.G1931E	NM_002474	NP_002465	P35749	MYH11_HUMAN			41	5899	-			1931			Potential.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.5792G>A	CCDS10565.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.62|16.62	3.173940|3.173940	0.57692|0.57692	.|.	.|.	ENSG00000133392|ENSG00000133392	ENST00000396320|ENST00000300036;ENST00000396324	.|D;D	.|0.85171	.|-1.95;-1.95	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77301|0.77301	0.4110|0.4110	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|B;B	.|0.17465	.|0.022;0.022	.|B;B	.|0.23716	.|0.048;0.048	T|T	0.71702|0.71702	-0.4513|-0.4513	6|10	0.02654|0.33940	T|T	1|0.23	.|.	15.9544|15.9544	0.79871|0.79871	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1931;1938	.|P35749;Q3MNF1	.|MYH11_HUMAN;.	K|E	1951|1931;1938	.|ENSP00000300036:G1931E;ENSP00000379616:G1938E	ENSP00000379613:E1951K|ENSP00000300036:G1931E	E|G	-|-	1|2	0|0	MYH11|MYH11	15705476|15705476	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	4.616000|4.616000	0.61197|0.61197	2.538000|2.538000	0.85594|0.85594	0.561000|0.561000	0.74099|0.74099	GAA|GGA		0.403	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		21	151	0	0	0	0.010504	0	21	151				
GTF3C1	2975	broad.mit.edu	37	16	27483125	27483125	+	Silent	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr16:27483125C>T	ENST00000356183.4	-	30	4485	c.4470G>A	c.(4468-4470)aaG>aaA	p.K1490K	GTF3C1_ENST00000561623.1_Silent_p.K1490K	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1490					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.K1490K(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGGCCCGGTTCTTCTTGGGGC	0.602																																							uc002dov.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(4468-4470)AAG>AAA		general transcription factor IIIC, polypeptide							108.0	101.0	103.0					16																	27483125		2197	4300	6497	SO:0001819	synonymous_variant	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27483125C>T	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.4470G>A	16.37:g.27483125C>T						GTF3C1_uc002dou.2_Silent_p.K1490K	p.K1490K	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			30	4510	-			1490					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	c.4470G>A	CCDS32414.1																																																																																				0.602	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		4	107	0	0	0	0.001168	0	4	107				
PAGR1	79447	broad.mit.edu	37	16	29830979	29830979	+	Silent	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr16:29830979G>A	ENST00000320330.6	+	3	1231	c.669G>A	c.(667-669)agG>agA	p.R223R	AC009133.20_ENST00000569039.1_RNA|MVP_ENST00000357402.5_5'Flank|MVP_ENST00000395353.1_5'Flank|AC009133.12_ENST00000564980.1_RNA|AC009133.12_ENST00000569809.1_RNA|MVP_ENST00000452209.2_5'Flank|PAGR1_ENST00000609618.1_Silent_p.R223R			Q9BTK6	PAGR1_HUMAN	PAXIP1 associated glutamate-rich protein 1	223						histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)		p.R223R(1)									GTACCGGGAGGGACCTCTTCA	0.637																																							uc002dug.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(667-669)AGG>AGA		PTIP-associated 1 protein							94.0	98.0	97.0					16																	29830979		2197	4300	6497	SO:0001819	synonymous_variant	79447							g.chr16:29830979G>A	BC003640	CCDS10655.1	16p11.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000185928	ENSG00000185928			28707	protein-coding gene	gene with protein product	"""glutamate-rich coactivator interacting with SRC1/NCOA1"", ""PTIP-associated 1 protein"", ""glutamate-rich coactivator associated with SRC1"""	612033	"""chromosome 16 open reading frame 53"""	C16orf53		17500065, 19039327	Standard	NM_024516		Approved	MGC4606, GAS, PA1	uc002dug.4	Q9BTK6	OTTHUMG00000132117	ENST00000320330.6:c.669G>A	16.37:g.29830979G>A						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002duh.1_Intron|MVP_uc010bzh.1_5'Flank|MVP_uc010vdz.1_5'Flank|MVP_uc002dui.2_5'Flank|MVP_uc002duj.2_5'Flank	p.R223R	NM_024516	NP_078792	Q9BTK6	PA1_HUMAN			3	988	+			223					A2ICR6	Silent	SNP	ENST00000320330.6	37	c.669G>A	CCDS10655.1																																																																																				0.637	PAGR1-002	PUTATIVE	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000473165.1	NM_024516		29	161	0	0	0	0.00632	0	29	161				
GPT2	84706	broad.mit.edu	37	16	46943706	46943706	+	Silent	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr16:46943706C>T	ENST00000340124.4	+	6	799	c.687C>T	c.(685-687)atC>atT	p.I229I	GPT2_ENST00000440783.2_Silent_p.I129I	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	229					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)	p.I229I(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	TCGACGCCATCCAGGTGAATT	0.577																																							uc002eel.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(685-687)ATC>ATT		glutamic pyruvate transaminase 2 isoform 1	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						90.0	85.0	87.0					16																	46943706		2203	4300	6503	SO:0001819	synonymous_variant	84706				2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:46943706C>T		CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.687C>T	16.37:g.46943706C>T						GPT2_uc002eem.2_Silent_p.I129I	p.I229I	NM_133443	NP_597700	Q8TD30	ALAT2_HUMAN			6	781	+		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)	229					Q8N9E2	Silent	SNP	ENST00000340124.4	37	c.687C>T	CCDS10725.1																																																																																				0.577	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255741.2			9	91	0	0	0	0.006214	0	9	91				
IRX3	79191	broad.mit.edu	37	16	54319192	54319192	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr16:54319192C>T	ENST00000329734.3	-	2	1313	c.601G>A	c.(601-603)Gag>Aag	p.E201K		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	201	Asp/Glu-rich (acidic).				mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.E201K(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						TTTCCCTCCTCGTCAGTGCGG	0.632																																					GBM(143;1830 1866 4487 4646 37383)	GBM(143;1830 1866 4487 4646 37383)	uc002eht.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(601-603)GAG>AAG		iroquois homeobox 3							63.0	53.0	57.0					16																	54319192		2198	4300	6498	SO:0001583	missense	79191				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:54319192C>T	U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"""Homeoboxes / TALE class"""	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.601G>A	16.37:g.54319192C>T	ENSP00000331608:p.Glu201Lys						p.E201K	NM_024336	NP_077312	P78415	IRX3_HUMAN			2	1017	-			201			Asp/Glu-rich (acidic).		Q7Z4A4|Q7Z4A5|Q8IVC6	Missense_Mutation	SNP	ENST00000329734.3	37	c.601G>A	CCDS10750.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.384711	0.42308	.	.	ENSG00000177508	ENST00000329734	T	0.54866	0.55	4.44	3.48	0.39840	.	0.000000	0.85682	D	0.000000	T	0.41419	0.1158	L	0.46157	1.445	0.48087	D	0.999588	P	0.34800	0.469	B	0.21917	0.037	T	0.45249	-0.9274	10	0.72032	D	0.01	-11.7002	12.0933	0.53739	0.0:0.8248:0.1752:0.0	.	201	P78415	IRX3_HUMAN	K	201	ENSP00000331608:E201K	ENSP00000331608:E201K	E	-	1	0	IRX3	52876693	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	7.337000	0.79256	1.063000	0.40649	-0.302000	0.09304	GAG		0.632	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2			7	48	0	0	0	0.001984	0	7	48				
P2RX1	5023	broad.mit.edu	37	17	3802231	3802231	+	Silent	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr17:3802231G>A	ENST00000225538.3	-	9	1237	c.963C>T	c.(961-963)ggC>ggT	p.G321G		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	321					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310)	external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)	p.G321G(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		CACTCACCTTGCCGTCCACCA	0.537																																							uc002fww.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(961-963)GGC>GGT		purinergic receptor P2X1							208.0	161.0	177.0					17																	3802231		2203	4300	6503	SO:0001819	synonymous_variant	5023				platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr17:3802231G>A	X83688	CCDS11040.1	17p13.3	2012-01-17				ENSG00000108405		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8533	protein-coding gene	gene with protein product		600845				8834001	Standard	NM_002558		Approved	P2X1	uc002fww.3	P51575		ENST00000225538.3:c.963C>T	17.37:g.3802231G>A							p.G321G	NM_002558	NP_002549	P51575	P2RX1_HUMAN		LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)	9	1404	-			321			Extracellular (Potential).		Q9UK84	Silent	SNP	ENST00000225538.3	37	c.963C>T	CCDS11040.1																																																																																				0.537	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438391.1	NM_002558		21	134	0	0	0	0.012319	0	21	134				
RABEP1	9135	broad.mit.edu	37	17	5241393	5241393	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr17:5241393C>T	ENST00000546142.2	+	5	795	c.608C>T	c.(607-609)aCa>aTa	p.T203I	RABEP1_ENST00000262477.6_Missense_Mutation_p.T203I|RABEP1_ENST00000341923.6_Missense_Mutation_p.T203I|RABEP1_ENST00000408982.2_Missense_Mutation_p.T203I|RABEP1_ENST00000537505.1_Missense_Mutation_p.T160I			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	203					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)	p.T203I(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GATAAACTGACAGAGGCTGAA	0.413																																							uc002gbm.3		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(607-609)ACA>ATA		rabaptin, RAB GTPase binding effector protein 1							120.0	120.0	120.0					17																	5241393		1851	4110	5961	SO:0001583	missense	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5241393C>T	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.608C>T	17.37:g.5241393C>T	ENSP00000437701:p.Thr203Ile					RABEP1_uc010clc.1_Missense_Mutation_p.T203I|RABEP1_uc010cld.1_Missense_Mutation_p.T160I|RABEP1_uc010vsw.1_Missense_Mutation_p.T160I|RABEP1_uc002gbl.3_Missense_Mutation_p.T203I|RABEP1_uc002gbk.2_Missense_Mutation_p.T203I	p.T203I	NM_004703	NP_004694	Q15276	RABE1_HUMAN			5	832	+			203			Potential.		B2RAG7|O95369|Q8IVX3	Missense_Mutation	SNP	ENST00000546142.2	37	c.608C>T	CCDS45592.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.543109	0.27563	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.35	5.35	0.76521	.	0.158168	0.53938	D	0.000042	T	0.25158	0.0611	N	0.08118	0	0.30533	N	0.767209	B;B;B;B;B;B	0.06786	0.001;0.0;0.001;0.0;0.0;0.001	B;B;B;B;B;B	0.08055	0.002;0.001;0.001;0.001;0.002;0.003	T	0.13308	-1.0514	10	0.45353	T	0.12	-14.175	13.8003	0.63196	0.0:0.9234:0.0:0.0766	.	160;160;203;203;203;203	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2;F5GZU7	.;.;.;RABE1_HUMAN;.;.	I	203;203;203;203;203;160	ENSP00000262477:T203I;ENSP00000386150:T203I;ENSP00000437701:T203I;ENSP00000339569:T203I;ENSP00000445408:T160I	ENSP00000262477:T203I	T	+	2	0	RABEP1	5182117	0.992000	0.36948	1.000000	0.80357	0.998000	0.95712	1.907000	0.39897	2.678000	0.91216	0.591000	0.81541	ACA		0.413	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		18	108	0	0	0	0.008871	0	18	108				
MYH2	4620	broad.mit.edu	37	17	10426900	10426900	+	Silent	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr17:10426900G>T	ENST00000245503.5	-	37	5769	c.5385C>A	c.(5383-5385)acC>acA	p.T1795T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.T1795T|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1795					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.T1795T(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GATCCTTCACGGTCTGCTCCA	0.567																																							uc010coi.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(5383-5385)ACC>ACA		myosin heavy chain IIa							106.0	106.0	106.0					17																	10426900		2203	4298	6501	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10426900G>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5385C>A	17.37:g.10426900G>T						uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.T1795T|MYH2_uc010coj.2_Intron	p.T1795T	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			37	5513	-			1795			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.5385C>A	CCDS11156.1																																																																																				0.567	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		6	117	1	0	8.12818e-05	0.001984	9.49071e-05	6	117				
MYH3	4621	broad.mit.edu	37	17	10535214	10535214	+	Silent	SNP	A	A	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr17:10535214A>G	ENST00000583535.1	-	35	5163	c.5076T>C	c.(5074-5076)acT>acC	p.T1692T	MYH3_ENST00000226209.7_Silent_p.T1692T	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1692					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.T1692T(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCTGCTCCAGAGTAGCCCGCA	0.657																																							uc002gmq.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(5074-5076)ACT>ACC		myosin, heavy chain 3, skeletal muscle,							51.0	53.0	52.0					17																	10535214		2203	4300	6503	SO:0001819	synonymous_variant	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10535214A>G		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.5076T>C	17.37:g.10535214A>G							p.T1692T	NM_002470	NP_002461	P11055	MYH3_HUMAN			34	5153	-			1692			Potential.		Q15492	Silent	SNP	ENST00000583535.1	37	c.5076T>C	CCDS11157.1																																																																																				0.657	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		4	53	0	0	0	0.009096	0	4	53				
SYT4	6860	broad.mit.edu	37	18	40850335	40850335	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr18:40850335C>G	ENST00000255224.3	-	4	1617	c.1249G>C	c.(1249-1251)Gcc>Ccc	p.A417P	SYT4_ENST00000590752.1_Missense_Mutation_p.A399P|SYT4_ENST00000586678.1_5'UTR	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	417					exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.A417P(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TGCCACTTGGCAATTTGTCTC	0.468																																					NSCLC(85;81 1419 2855 22820 35912)	NSCLC(85;81 1419 2855 22820 35912)	uc002law.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(5)	5						c.(1249-1251)GCC>CCC		synaptotagmin IV							187.0	192.0	190.0					18																	40850335		2203	4300	6503	SO:0001583	missense	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40850335C>G	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.1249G>C	18.37:g.40850335C>G	ENSP00000255224:p.Ala417Pro					SYT4_uc010dng.2_RNA|SYT4_uc010xcm.1_Missense_Mutation_p.A399P|SYT4_uc010dnh.2_RNA	p.A417P	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN			4	1618	-			417			Cytoplasmic (Potential).		B4DEU3|Q9P2K4	Missense_Mutation	SNP	ENST00000255224.3	37	c.1249G>C	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615198	0.87359	.	.	ENSG00000132872	ENST00000255224;ENST00000442661	T	0.72394	-0.65	5.58	5.58	0.84498	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.88808	0.6537	M	0.93283	3.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.91213	0.5000	10	0.87932	D	0	.	19.5717	0.95423	0.0:1.0:0.0:0.0	.	399;417	B4DEU3;Q9H2B2	.;SYT4_HUMAN	P	417;222	ENSP00000255224:A417P	ENSP00000255224:A417P	A	-	1	0	SYT4	39104333	1.000000	0.71417	0.988000	0.46212	0.972000	0.66771	5.930000	0.70104	2.644000	0.89710	0.655000	0.94253	GCC		0.468	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		18	229	0	0	0	0.006122	0	18	229				
SETBP1	26040	broad.mit.edu	37	18	42281721	42281721	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr18:42281721G>T	ENST00000282030.5	+	2	706	c.410G>T	c.(409-411)gGg>gTg	p.G137V	SETBP1_ENST00000426838.4_Missense_Mutation_p.G137V	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	137						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G137V(2)|p.G83V(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAGCAGTCTGGGGACCAGAAG	0.463									Schinzel-Giedion syndrome																														uc010dni.2		NA																	3	Substitution - Missense(3)		lung(3)	upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(409-411)GGG>GTG		SET binding protein 1 isoform a							66.0	66.0	66.0					18																	42281721		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42281721G>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.410G>T	18.37:g.42281721G>T	ENSP00000282030:p.Gly137Val					SETBP1_uc002lay.2_Missense_Mutation_p.G137V	p.G137V	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	2	706	+			137					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.410G>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071486	0.76301	.	.	ENSG00000152217	ENST00000426838;ENST00000282030;ENST00000552979	T	0.74842	-0.88	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.84524	0.5491	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.85132	0.0975	10	0.66056	D	0.02	.	19.5077	0.95125	0.0:0.0:1.0:0.0	.	137;137	Q9Y6X0;Q9Y6X0-2	SETBP_HUMAN;.	V	137	ENSP00000282030:G137V	ENSP00000282030:G137V	G	+	2	0	SETBP1	40535719	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.865000	0.87049	2.597000	0.87782	0.591000	0.81541	GGG		0.463	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		4	76	1	0	1.024e-07	0.000602	1.2928e-07	4	76				
SERPINB13	5275	broad.mit.edu	37	18	61262278	61262278	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr18:61262278G>T	ENST00000344731.5	+	7	733	c.631G>T	c.(631-633)Gta>Tta	p.V211L	SERPINB13_ENST00000269489.5_Intron	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	211					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V211L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						AAGTAAATCTGTACAGATGAT	0.383																																							uc002ljc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(631-633)GTA>TTA		serine (or cysteine) proteinase inhibitor, clade							93.0	86.0	89.0					18																	61262278		2203	4300	6503	SO:0001583	missense	5275				regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	g.chr18:61262278G>T	AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"""Serine (or cysteine) peptidase inhibitors"""	8944	protein-coding gene	gene with protein product		604445	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"""	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.631G>T	18.37:g.61262278G>T	ENSP00000341584:p.Val211Leu					SERPINB13_uc002ljd.2_Missense_Mutation_p.V75L|SERPINB13_uc010xep.1_Missense_Mutation_p.V220L|SERPINB13_uc010xeq.1_Missense_Mutation_p.V32L|SERPINB13_uc010xer.1_Missense_Mutation_p.V32L	p.V211L	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN			7	799	+			211					A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	ENST00000344731.5	37	c.631G>T	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148958	0.57151	.	.	ENSG00000197641	ENST00000539341;ENST00000344731;ENST00000415733	D;D	0.88509	-2.39;-2.39	5.92	5.05	0.67936	Serpin domain (3);	0.000000	0.49916	D	0.000129	D	0.95837	0.8645	H	0.95470	3.675	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.66716	0.941;0.911;0.946	D	0.96894	0.9655	10	0.87932	D	0	.	14.4621	0.67456	0.0704:0.0:0.9296:0.0	.	220;129;211	B7ZKV6;F5GZ40;Q9UIV8	.;.;SPB13_HUMAN	L	129;211;60	ENSP00000341584:V211L;ENSP00000391156:V60L	ENSP00000341584:V211L	V	+	1	0	SERPINB13	59413258	1.000000	0.71417	0.799000	0.32177	0.590000	0.36582	8.813000	0.91963	1.505000	0.48720	0.655000	0.94253	GTA		0.383	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397		23	73	1	0	9.62636e-23	0.014323	1.34105e-22	23	73				
CALR	811	broad.mit.edu	37	19	13051264	13051264	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr19:13051264G>A	ENST00000316448.5	+	5	773	c.700G>A	c.(700-702)Gag>Aag	p.E234K		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	234	4 X approximate repeats.|P-domain.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.E234K(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	CTCCAAGCCTGAGGTTGGTGT	0.552																																							uc002mvu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(700-702)GAG>AAG		calreticulin precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						43.0	48.0	46.0					19																	13051264		2203	4300	6503	SO:0001583	missense	811				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding	g.chr19:13051264G>A	M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"""Sicca syndrome antigen A (autoantigen Ro; calreticulin)"", ""autoantigen Ro"""	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.700G>A	19.37:g.13051264G>A	ENSP00000320866:p.Glu234Lys						p.E234K	NM_004343	NP_004334	P27797	CALR_HUMAN			5	780	+			234			P-domain.|4 X approximate repeats.|1-3.		Q6IAT4|Q9UDG2	Missense_Mutation	SNP	ENST00000316448.5	37	c.700G>A	CCDS12288.1	.	.	.	.	.	.	.	.	.	.	G	35	5.589832	0.96590	.	.	ENSG00000179218	ENST00000316448;ENST00000539083	T	0.57752	0.38	5.42	5.42	0.78866	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Calreticulin/calnexin, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.75110	0.3805	M	0.91354	3.2	0.80722	D	1	P	0.47034	0.889	P	0.54544	0.755	T	0.81313	-0.0989	10	0.87932	D	0	-38.977	17.9765	0.89129	0.0:0.0:1.0:0.0	.	234	P27797	CALR_HUMAN	K	234;113	ENSP00000320866:E234K	ENSP00000320866:E234K	E	+	1	0	CALR	12912264	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.742000	0.98846	2.531000	0.85337	0.563000	0.77884	GAG		0.552	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451952.1	NM_004343		3	25	0	0	0	0.004672	0	3	25				
PKN1	5585	broad.mit.edu	37	19	14569090	14569090	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr19:14569090T>A	ENST00000242783.6	+	9	1487	c.1322T>A	c.(1321-1323)cTg>cAg	p.L441Q	CTC-548K16.6_ENST00000589702.1_RNA|PKN1_ENST00000342216.4_Missense_Mutation_p.L447Q	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	441	C2.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.L441Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CAGCGGGGCCTGTGTGCCCTC	0.602																																					NSCLC(185;2539 2965 10733 52867)	NSCLC(185;2539 2965 10733 52867)	uc002myp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						c.(1321-1323)CTG>CAG		protein kinase N1 isoform 2							69.0	77.0	74.0					19																	14569090		2054	4189	6243	SO:0001583	missense	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14569090T>A	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.1322T>A	19.37:g.14569090T>A	ENSP00000242783:p.Leu441Gln					PKN1_uc002myq.2_Missense_Mutation_p.L447Q	p.L441Q	NM_002741	NP_002732	Q16512	PKN1_HUMAN			9	1490	+			441			C2.		A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	c.1322T>A	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.183771	0.78677	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.23950	1.88;1.88	4.17	4.17	0.49024	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.52532	U	0.000073	T	0.51805	0.1696	M	0.82323	2.585	0.45415	D	0.998391	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.58086	-0.7698	10	0.87932	D	0	-10.7884	11.1981	0.48726	0.0:0.0:0.0:1.0	.	447;441	Q16512-2;Q16512	.;PKN1_HUMAN	Q	441;447	ENSP00000242783:L441Q;ENSP00000343325:L447Q	ENSP00000242783:L441Q	L	+	2	0	PKN1	14430090	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.126000	0.77201	1.540000	0.49301	0.459000	0.35465	CTG		0.602	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		4	53	0	0	0	0.009096	0	4	53				
SYNE4	163183	broad.mit.edu	37	19	36496333	36496333	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr19:36496333C>A	ENST00000324444.3	-	6	985	c.874G>T	c.(874-876)Gac>Tac	p.D292Y	SYNE4_ENST00000340477.5_Missense_Mutation_p.D179Y	NM_001039876.1	NP_001034965.1	Q8N205	SYNE4_HUMAN	spectrin repeat containing, nuclear envelope family member 4	292					establishment of epithelial cell apical/basal polarity (GO:0045198)	integral component of nuclear outer membrane (GO:0031309)		p.D292Y(1)									TGAGAGGTGTCTGCTTCCTGG	0.562																																							uc002ocq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(874-876)GAC>TAC		hypothetical protein LOC163183							61.0	63.0	63.0					19																	36496333		2020	4184	6204	SO:0001583	missense	163183				establishment of epithelial cell apical/basal polarity	integral to nuclear outer membrane	actin binding	g.chr19:36496333C>A	BC038360	CCDS42553.1	19q13.12	2014-01-28	2012-05-31	2012-05-31	ENSG00000181392	ENSG00000181392			26703	protein-coding gene	gene with protein product		615535	"""chromosome 19 open reading frame 46"", ""deafness, autosomal recessive 76"""	C19orf46, DFNB76		23348741	Standard	XM_005258597		Approved	FLJ36445, Nesprin-4, Nesp4	uc002ocq.1	Q8N205	OTTHUMG00000048135	ENST00000324444.3:c.874G>T	19.37:g.36496333C>A	ENSP00000316130:p.Asp292Tyr					C19orf46_uc002ocr.1_Missense_Mutation_p.R232I|C19orf46_uc002ocs.1_Missense_Mutation_p.D179Y|C19orf46_uc010een.1_Missense_Mutation_p.D207Y	p.D292Y	NM_001039876	NP_001034965	Q8N205	SYNE4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		6	963	-	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		292			Cytoplasmic (Potential).		A8MRS0|A8MYE3|Q7Z7L3	Missense_Mutation	SNP	ENST00000324444.3	37	c.874G>T	CCDS42553.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.992|9.992	1.231188|1.231188	0.22626|0.22626	.|.	.|.	ENSG00000181392|ENSG00000181392	ENST00000397428;ENST00000340477;ENST00000324444|ENST00000490730	T;T|T	0.34072|0.44083	1.38;1.39|0.93	3.99|3.99	-3.98|-3.98	0.04082|0.04082	.|.	.|.	.|.	.|.	.|.	T|T	0.16342|0.16342	0.0393|0.0393	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|B	0.02656|0.02656	0.0;0.0|0.0	B;B|B	0.01281|0.01281	0.0;0.0|0.0	T|T	0.15037|0.15037	-1.0451|-1.0451	9|9	0.44086|0.36615	T|T	0.13|0.2	-36.4269|-36.4269	1.258|1.258	0.01996|0.01996	0.1747:0.1345:0.29:0.4008|0.1747:0.1345:0.29:0.4008	.|.	179;292|232	Q8N205-2;Q8N205|D6RAE3	.;SYNE4_HUMAN|.	Y|I	16;179;292|232	ENSP00000343152:D179Y;ENSP00000316130:D292Y|ENSP00000422716:R232I	ENSP00000316130:D292Y|ENSP00000422716:R232I	D|R	-|-	1|2	0|0	C19orf46|C19orf46	41188173|41188173	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-0.264000|-0.264000	0.08658|0.08658	-0.551000|-0.551000	0.06175|0.06175	-0.877000|-0.877000	0.02976|0.02976	GAC|AGA		0.562	SYNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109525.3	NM_001039876		4	47	1	0	0.00909568	0.009096	0.00967014	4	47				
MAP4K1	11184	broad.mit.edu	37	19	39090623	39090623	+	Silent	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr19:39090623G>C	ENST00000591517.1	-	22	1639	c.1611C>G	c.(1609-1611)ctC>ctG	p.L537L	CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000423454.2_Intron|MAP4K1_ENST00000589130.1_Silent_p.L533L|MAP4K1_ENST00000396857.2_Silent_p.L537L	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	537	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.L537L(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGCTAGGAAAGAGCTGCAGGG	0.592																																							uc002oix.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(4)|lung(3)|ovary(1)	8						c.(1609-1611)CTC>CTG		mitogen-activated protein kinase kinase kinase							110.0	116.0	114.0					19																	39090623		2074	4217	6291	SO:0001819	synonymous_variant	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39090623G>C	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1611C>G	19.37:g.39090623G>C						MAP4K1_uc002oiw.1_Silent_p.L124L|MAP4K1_uc002oiy.1_Silent_p.L537L|MAP4K1_uc010xug.1_Intron	p.L537L	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		22	1719	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		537			CNH.			Silent	SNP	ENST00000591517.1	37	c.1611C>G	CCDS59385.1																																																																																				0.592	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		4	97	0	0	0	0.009096	0	4	97				
AKT2	208	broad.mit.edu	37	19	40745995	40745995	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr19:40745995G>C	ENST00000392038.2	-	7	894	c.596C>G	c.(595-597)aCc>aGc	p.T199S	AKT2_ENST00000424901.1_Missense_Mutation_p.T199S|AKT2_ENST00000311278.6_Missense_Mutation_p.T199S|AKT2_ENST00000579047.1_Missense_Mutation_p.T137S	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	199	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)	p.T199S(1)		breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			CCGGCTCTCGGTGACTGTGTG	0.637			A		"""ovarian, pancreatic """																																		uc002onf.2		NA		Dom	yes		19	19q13.1-q13.2	208	A	v-akt murine thymoma viral oncogene homolog 2			E			ovarian|pancreatic 		1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(595-597)ACC>AGC		AKT2 kinase							186.0	178.0	181.0					19																	40745995		2203	4300	6503	SO:0001583	missense	208				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:40745995G>C	M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.596C>G	19.37:g.40745995G>C	ENSP00000375892:p.Thr199Ser					AKT2_uc010egs.2_Missense_Mutation_p.T199S|AKT2_uc010egt.2_Missense_Mutation_p.T137S|AKT2_uc010xvj.1_Missense_Mutation_p.T137S|AKT2_uc010egu.1_Missense_Mutation_p.T137S|AKT2_uc010xvk.1_Missense_Mutation_p.T199S|AKT2_uc002one.2_Missense_Mutation_p.T95S	p.T199S	NM_001626	NP_001617	P31751	AKT2_HUMAN	Lung(22;0.000499)		7	858	-			199			Protein kinase.		B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Missense_Mutation	SNP	ENST00000392038.2	37	c.596C>G	CCDS12552.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246438	0.80024	.	.	ENSG00000105221	ENST00000392038;ENST00000391844;ENST00000424901;ENST00000311278;ENST00000391845;ENST00000537834	T;T;T	0.24350	1.86;1.86;1.86	5.02	2.89	0.33648	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.095855	0.64402	D	0.000001	T	0.28599	0.0708	N	0.11818	0.18	0.80722	D	1	D;B;P;P	0.89917	1.0;0.241;0.78;0.782	D;B;P;P	0.80764	0.994;0.392;0.562;0.653	T	0.04216	-1.0968	10	0.41790	T	0.15	.	10.3986	0.44216	0.1602:0.0:0.8398:0.0	.	199;137;199;199	B7Z8Z9;B4DG79;Q0VAN0;P31751	.;.;.;AKT2_HUMAN	S	199;100;199;199;19;199	ENSP00000375892:T199S;ENSP00000399532:T199S;ENSP00000309428:T199S	ENSP00000309428:T199S	T	-	2	0	AKT2	45437835	1.000000	0.71417	0.981000	0.43875	0.963000	0.63663	9.587000	0.98229	0.708000	0.31955	0.655000	0.94253	ACC		0.637	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626		26	221	0	0	0	0.00632	0	26	221				
PSG8	440533	broad.mit.edu	37	19	43359837	43359837	+	De_novo_Start_InFrame	SNP	C	C	T	rs377403811	byFrequency	TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr19:43359837C>T	ENST00000401467.2	-	0	6				PSG10P_ENST00000597171.1_RNA			Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8							extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTCCTGAGCACGGCTGTAGGC	0.607													.|||	4	0.000798722	0.0	0.0	5008	,	,		17262	0.0		0.0	False		,,,				2504	0.0041						uc002oul.3		NA																	0					0						c.(-67--63)CCGTG>CCATG		pregnancy specific beta-1-glycoprotein 8 isoform																																						440533					extracellular region		g.chr19:43359837C>T	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118		19.37:g.43359837C>T						PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG8_uc002oum.3_Translation_Start_Site|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Translation_Start_Site|PSG10_uc010eip.2_RNA|PSG1_uc002our.1_Intron|PSG1_uc010eio.1_Intron|PSG1_uc002oux.1_Intron|PSG1_uc002ouy.1_Intron		NM_001130168	NP_001123640	Q9UQ74	PSG8_HUMAN			1	34	-		Prostate(69;0.00899)						A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Translation_Start_Site	SNP	ENST00000401467.2	37	c.-65G>A																																																																																					0.607	PSG8-009	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000464525.1			14	61	0	0	0	0.001855	0	14	61				
NOVA2	4858	broad.mit.edu	37	19	46444058	46444058	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr19:46444058G>A	ENST00000263257.5	-	4	736	c.542C>T	c.(541-543)aCg>aTg	p.T181M		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	181	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.T181M(1)		endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GCCGCTGACCGTCACCACGCG	0.632																																							uc002pdv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(541-543)ACG>ATG		neuro-oncological ventral antigen 2							53.0	34.0	40.0					19																	46444058		2203	4300	6503	SO:0001583	missense	4858					nucleus	RNA binding	g.chr19:46444058G>A	U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"""neuro-oncological ventral antigen 3"""	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.542C>T	19.37:g.46444058G>A	ENSP00000263257:p.Thr181Met						p.T181M	NM_002516	NP_002507	Q9UNW9	NOVA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)	4	590	-		all_neural(266;0.113)|Ovarian(192;0.127)	181			KH 2.		O43267|Q9UEA1	Missense_Mutation	SNP	ENST00000263257.5	37	c.542C>T	CCDS12679.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160865	0.57368	.	.	ENSG00000104967	ENST00000263257	T	0.33865	1.39	3.82	2.78	0.32641	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	M	0.86028	2.79	0.58432	D	0.999996	D	0.55800	0.973	P	0.50791	0.65	T	0.55140	-0.8187	10	0.66056	D	0.02	-12.113	9.0723	0.36500	0.111:0.0:0.889:0.0	.	181	Q9UNW9	NOVA2_HUMAN	M	181	ENSP00000263257:T181M	ENSP00000263257:T181M	T	-	2	0	NOVA2	51135898	1.000000	0.71417	0.900000	0.35374	0.867000	0.49689	7.715000	0.84713	0.845000	0.35118	0.484000	0.47621	ACG		0.632	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516		3	31	0	0	0	0.004672	0	3	31				
TRIM54	57159	broad.mit.edu	37	2	27505721	27505721	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr2:27505721C>T	ENST00000380075.2	+	1	462	c.122C>T	c.(121-123)cCc>cTc	p.P41L	TRIM54_ENST00000296098.4_Missense_Mutation_p.P41L	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	41					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.P25L(1)		cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGATCCTGCCCTGCCAACAC	0.597																																							uc002rjo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(121-123)CCC>CTC		ring finger protein 30 isoform 2							249.0	212.0	224.0					2																	27505721		2203	4300	6503	SO:0001583	missense	57159				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding	g.chr2:27505721C>T	AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16008	protein-coding gene	gene with protein product		606474	"""ring finger protein 30"", ""tripartite motif-containing 54"""	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.122C>T	2.37:g.27505721C>T	ENSP00000369415:p.Pro41Leu					TRIM54_uc002rjn.2_Missense_Mutation_p.P41L	p.P41L	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN			1	122	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		41			RING-type.		A5D8T7|Q53SY4|Q9BYV3	Missense_Mutation	SNP	ENST00000380075.2	37	c.122C>T	CCDS1746.2	.	.	.	.	.	.	.	.	.	.	C	32	5.172285	0.94807	.	.	ENSG00000138100	ENST00000380075;ENST00000296098	D;D	0.86432	-2.12;-2.12	5.49	5.49	0.81192	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.058945	0.64402	D	0.000001	D	0.91676	0.7369	L	0.52126	1.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92320	0.5865	10	0.87932	D	0	-20.3467	16.858	0.86010	0.0:1.0:0.0:0.0	.	41;41	Q9BYV2;Q9BYV2-2	TRI54_HUMAN;.	L	41	ENSP00000369415:P41L;ENSP00000296098:P41L	ENSP00000296098:P41L	P	+	2	0	TRIM54	27359225	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.770000	0.85390	2.568000	0.86640	0.462000	0.41574	CCC		0.597	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214199.2	NM_187841		22	281	0	0	0	0.00333	0	22	281				
LTBP1	4052	broad.mit.edu	37	2	33500152	33500152	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr2:33500152G>T	ENST00000404816.2	+	17	3217	c.2864G>T	c.(2863-2865)tGc>tTc	p.C955F	LTBP1_ENST00000407925.1_Missense_Mutation_p.C629F|LTBP1_ENST00000402934.1_Missense_Mutation_p.C576F|LTBP1_ENST00000418533.2_Missense_Mutation_p.C629F|LTBP1_ENST00000390003.4_Missense_Mutation_p.C630F|LTBP1_ENST00000354476.3_Missense_Mutation_p.C956F|LTBP1_ENST00000404525.1_Missense_Mutation_p.C576F			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	955	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.C956F(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGTACTAACTGCATAGGTAAT	0.473																																							uc002ros.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(2866-2868)TGC>TTC		latent transforming growth factor beta binding							107.0	98.0	101.0					2																	33500152		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33500152G>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2864G>T	2.37:g.33500152G>T	ENSP00000386043:p.Cys955Phe					LTBP1_uc002rot.2_Missense_Mutation_p.C630F|LTBP1_uc002rou.2_Missense_Mutation_p.C629F|LTBP1_uc002rov.2_Missense_Mutation_p.C576F|LTBP1_uc010ymz.1_Missense_Mutation_p.C629F|LTBP1_uc010yna.1_Missense_Mutation_p.C576F	p.C956F	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			17	2867	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	955			EGF-like 5; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.2867G>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945830	0.53079	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	D;D;D;D;D;D;D	0.99953	-7.98;-7.98;-5.91;-7.98;-8.81;-5.91;-5.91	5.77	5.77	0.91146	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99967	0.9988	H	0.98111	4.15	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.997;0.999;1.0;0.999	D;D;D;D;D;D	0.91635	0.995;0.999;0.946;0.982;0.999;0.982	D	0.96819	0.9602	9	0.87932	D	0	.	19.9928	0.97374	0.0:0.0:1.0:0.0	.	955;629;576;629;630;956	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	F	955;956;630;629;576;576;629	ENSP00000386043:C955F;ENSP00000346467:C956F;ENSP00000374653:C630F;ENSP00000393057:C629F;ENSP00000384373:C576F;ENSP00000385359:C576F;ENSP00000384091:C629F	ENSP00000346467:C956F	C	+	2	0	LTBP1	33353656	1.000000	0.71417	0.988000	0.46212	0.118000	0.20060	8.178000	0.89690	2.745000	0.94114	0.650000	0.86243	TGC		0.473	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		4	81	1	0	1.23904e-05	0.000602	1.4898e-05	4	81				
NRXN1	9378	broad.mit.edu	37	2	51255078	51255078	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr2:51255078C>T	ENST00000406316.2	-	2	1810	c.334G>A	c.(334-336)Ggc>Agc	p.G112S	NRXN1_ENST00000404971.1_Missense_Mutation_p.G112S|NRXN1_ENST00000406859.3_Missense_Mutation_p.G112S|NRXN1_ENST00000401669.2_Missense_Mutation_p.G112S|NRXN1_ENST00000402717.3_Missense_Mutation_p.G112S|NRXN1_ENST00000405581.1_Missense_Mutation_p.G112S|NRXN1_ENST00000405472.3_Missense_Mutation_p.G112S	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	112	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.G112S(3)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGCCAGGCGCCGTCGTTAACC	0.667																																							uc010fbq.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(334-336)GGC>AGC		neurexin 1 isoform alpha2 precursor							22.0	27.0	25.0					2																	51255078		2061	4196	6257	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:51255078C>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.334G>A	2.37:g.51255078C>T	ENSP00000384311:p.Gly112Ser					NRXN1_uc002rxe.3_Missense_Mutation_p.G112S|NRXN1_uc002rxd.1_Missense_Mutation_p.G112S	p.G112S	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1811	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	175			Extracellular (Potential).|Laminin G-like.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.334G>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	7.631	0.678815	0.14841	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	D;D;D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.455403	0.13354	U	0.394180	T	0.74427	0.3715	L	0.31371	0.925	0.27560	N	0.950229	B;B;B	0.25048	0.004;0.019;0.117	B;B;B	0.20767	0.013;0.008;0.031	T	0.61749	-0.6999	10	0.27785	T	0.31	.	6.4723	0.22015	0.0:0.7701:0.0:0.2299	.	112;112;112	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	S	112	ENSP00000385142:G112S;ENSP00000384311:G112S;ENSP00000434015:G112S;ENSP00000385017:G112S;ENSP00000385434:G112S;ENSP00000385681:G112S;ENSP00000385310:G112S	ENSP00000385017:G112S	G	-	1	0	NRXN1	51108582	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	2.066000	0.41452	2.293000	0.77203	0.563000	0.77884	GGC		0.667	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			4	31	0	0	0	0.009096	0	4	31				
ANXA4	307	broad.mit.edu	37	2	70015217	70015217	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr2:70015217C>T	ENST00000394295.4	+	3	289	c.41C>T	c.(40-42)tCa>tTa	p.S14L	ANXA4_ENST00000409920.1_Missense_Mutation_p.S14L|ANXA4_ENST00000536030.1_Intron	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	12					epithelial cell differentiation (GO:0030855)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phospholipase inhibitor activity (GO:0004859)	p.S14L(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						AAAGCTGCTTCAGGATTCAAT	0.532																																							uc002sfr.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(40-42)TCA>TTA		annexin IV							142.0	124.0	130.0					2																	70015217		2203	4300	6503	SO:0001583	missense	307				anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	g.chr2:70015217C>T	M82809	CCDS1894.1	2p13.3	2008-02-05			ENSG00000196975	ENSG00000196975		"""Annexins"""	542	protein-coding gene	gene with protein product		106491		ANX4		1346776	Standard	NM_001153		Approved		uc002sfr.4	P09525	OTTHUMG00000129649	ENST00000394295.4:c.41C>T	2.37:g.70015217C>T	ENSP00000377833:p.Ser14Leu					ANXA4_uc010yqn.1_RNA|ANXA4_uc002sfs.3_Missense_Mutation_p.S14L|ANXA4_uc010yqo.1_Intron	p.S14L	NM_001153	NP_001144	P09525	ANXA4_HUMAN			3	268	+			12					B4DDF9|Q96F33|Q9BWK1	Missense_Mutation	SNP	ENST00000394295.4	37	c.41C>T	CCDS1894.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392337	0.42410	.	.	ENSG00000196975	ENST00000409920;ENST00000394295	T;T	0.10668	2.85;2.85	5.77	4.89	0.63831	.	0.267128	0.37530	N	0.002059	T	0.10852	0.0265	L	0.60957	1.885	0.80722	D	1	B;P	0.39551	0.002;0.678	B;B	0.30495	0.005;0.116	T	0.01791	-1.1273	10	0.72032	D	0.01	.	11.247	0.49002	0.0:0.9133:0.0:0.0867	.	14;14	Q6P452;Q6LES2	.;.	L	14	ENSP00000386756:S14L;ENSP00000377833:S14L	ENSP00000377833:S14L	S	+	2	0	ANXA4	69868721	0.442000	0.25633	1.000000	0.80357	0.328000	0.28507	0.896000	0.28377	2.744000	0.94065	0.561000	0.74099	TCA		0.532	ANXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251848.2	NM_001153		4	50	0	0	0	0.000602	0	4	50				
Unknown	0	broad.mit.edu	37	2	73928246	73928246	+	IGR	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr2:73928246C>A								ALMS1P (15543 upstream) : TPRKB (28710 downstream)																							AACACGAGGGCCAGAATCCAG	0.577																																							uc002sjk.1		NA																	0					0						c.(187-189)GCC>TCC		N-acetyltransferase 8B							75.0	86.0	82.0					2																	73928246		2203	4300	6503	SO:0001628	intergenic_variant	51471				gastrulation with mouth forming second	integral to membrane	N-acetyltransferase activity	g.chr2:73928246C>A																													2.37:g.73928246C>A							p.A63S	NM_016347	NP_057431	Q9UHF3	NAT8B_HUMAN			2	222	-			63			N-acetyltransferase.|Helical; (Potential).			Missense_Mutation	SNP		37	c.187G>T																																																																																				0	0.577									13	60	1	0	0.000151284	0.001855	0.000173633	13	60				
TGFBRAP1	9392	broad.mit.edu	37	2	105924096	105924096	+	Silent	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr2:105924096G>A	ENST00000393359.2	-	2	1089	c.663C>T	c.(661-663)ttC>ttT	p.F221F	TGFBRAP1_ENST00000258449.1_Silent_p.F221F			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	221	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)	p.F221F(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CCGCCAGCAGGAACTCCTGTC	0.582																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	Esophageal Squamous(183;794 2019 9730 21801 48859)	uc002tcq.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(661-663)TTC>TTT		transforming growth factor, beta receptor							97.0	111.0	106.0					2																	105924096		2203	4300	6503	SO:0001819	synonymous_variant	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105924096G>A	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.663C>T	2.37:g.105924096G>A						TGFBRAP1_uc002tcr.3_Silent_p.F221F	p.F221F	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN			2	747	-			221			CNH.		A8K5R7|D3DVJ8|O60466	Silent	SNP	ENST00000393359.2	37	c.663C>T	CCDS2067.1																																																																																				0.582	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		10	175	0	0	0	0.00499	0	10	175				
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433																																							uc002thi.2		NA																	5	Substitution - Missense(5)		lung(3)|kidney(1)|endometrium(1)	skin(2)	2						c.(1609-1611)ACT>GCT		anaphase promoting complex subunit 1							109.0	106.0	107.0					2																	112608394		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112608394T>C	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1609A>G	2.37:g.112608394T>C	ENSP00000339109:p.Thr537Ala						p.T537A	NM_022662	NP_073153	Q9H1A4	APC1_HUMAN			14	1856	-			537					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1609A>G	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.716|4.716	0.133071|0.133071	0.09032|0.09032	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.57|4.57	3.37|3.37	0.38596|0.38596	.|.	0.273018|.	0.23039|.	U|.	0.052629|.	T|T	0.55305|0.55305	0.1912|0.1912	L|L	0.45352|0.45352	1.415|1.415	0.37887|0.37887	D|D	0.930579|0.930579	B|.	0.14438|.	0.01|.	B|.	0.18263|.	0.021|.	T|T	0.53535|0.53535	-0.8425|-0.8425	9|5	0.08837|.	T|.	0.75|.	-8.0757|-8.0757	10.3103|10.3103	0.43704|0.43704	0.1479:0.0:0.0:0.8521|0.1479:0.0:0.0:0.8521	.|.	537|.	Q9H1A4|.	APC1_HUMAN|.	A|C	537|71	.|.	ENSP00000339109:T537A|.	T|Y	-|-	1|2	0|0	ANAPC1|ANAPC1	112324865|112324865	1.000000|1.000000	0.71417|0.71417	0.138000|0.138000	0.22173|0.22173	0.127000|0.127000	0.20565|0.20565	3.555000|3.555000	0.53727|0.53727	0.570000|0.570000	0.29347|0.29347	0.369000|0.369000	0.22263|0.22263	ACT|TAC		0.433	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		3	121	0	0	0	0.004672	0	3	121				
KCNJ3	3760	broad.mit.edu	37	2	155711659	155711659	+	Nonsense_Mutation	SNP	C	C	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr2:155711659C>G	ENST00000295101.2	+	3	1817	c.1340C>G	c.(1339-1341)tCa>tGa	p.S447*		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	447					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.S447*(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CCGGGCAACTCAGAAGAAAAA	0.433																																							uc002tyv.1		NA																	1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)|pancreas(1)	2						c.(1339-1341)TCA>TGA		potassium inwardly-rectifying channel J3	Halothane(DB01159)						54.0	58.0	57.0					2																	155711659		2203	4300	6503	SO:0001587	stop_gained	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155711659C>G	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.1340C>G	2.37:g.155711659C>G	ENSP00000295101:p.Ser447*					KCNJ3_uc010zce.1_3'UTR	p.S447*	NM_002239	NP_002230	P48549	IRK3_HUMAN			3	1535	+			447			Cytoplasmic (By similarity).		B4DEW7|Q8TBI0	Nonsense_Mutation	SNP	ENST00000295101.2	37	c.1340C>G	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	C	39	7.441349	0.98286	.	.	ENSG00000162989	ENST00000295101	.	.	.	5.95	5.95	0.96441	.	0.256580	0.37095	N	0.002248	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.3906	0.94581	0.0:1.0:0.0:0.0	.	.	.	.	X	447	.	ENSP00000295101:S447X	S	+	2	0	KCNJ3	155419905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.920000	0.70017	2.827000	0.97445	0.650000	0.86243	TCA		0.433	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		4	55	0	0	0	0.009096	0	4	55				
NOSTRIN	115677	broad.mit.edu	37	2	169717326	169717326	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr2:169717326A>G	ENST00000317647.7	+	14	1430	c.1201A>G	c.(1201-1203)Aaa>Gaa	p.K401E	NOSTRIN_ENST00000458381.2_Missense_Mutation_p.K458E|NOSTRIN_ENST00000444448.2_Missense_Mutation_p.K458E|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.K323E|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.K373E|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.K323E|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.K373E	NM_001039724.3	NP_001034813.2	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	401					endocytosis (GO:0006897)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoskeleton (GO:0005856)|endocytic vesicle membrane (GO:0030666)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)	p.K401E(1)|p.K458E(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						TAGCTATGTGAAAATATCTCG	0.363																																							uc002ueg.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1201-1203)AAA>GAA		nitric oxide synthase trafficker isoform 2							94.0	87.0	89.0					2																	169717326		1842	4080	5922	SO:0001583	missense	115677				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding	g.chr2:169717326A>G	AJ532842	CCDS42771.1, CCDS42772.1, CCDS54415.1, CCDS54416.1	2q31.1	2013-08-05	2013-08-05		ENSG00000163072	ENSG00000163072			20203	protein-coding gene	gene with protein product		607496	"""nitric oxide synthase trafficker"""			12446846	Standard	NM_001171631		Approved	MGC20702	uc002ueg.3	Q8IVI9	OTTHUMG00000153990	ENST00000317647.7:c.1201A>G	2.37:g.169717326A>G	ENSP00000318921:p.Lys401Glu					NOSTRIN_uc002uef.2_Missense_Mutation_p.K458E|NOSTRIN_uc002uei.2_Missense_Mutation_p.K284E|NOSTRIN_uc010fpu.2_Missense_Mutation_p.K373E|NOSTRIN_uc002ueh.2_Missense_Mutation_p.K323E|NOSTRIN_uc002uej.2_Missense_Mutation_p.K284E|NOSTRIN_uc002uek.2_Missense_Mutation_p.K85E	p.K401E	NM_001039724	NP_001034813	Q8IVI9	NOSTN_HUMAN			14	1205	+			401					A8K2I9|B3KSF5|E7EPT9|Q27HG3|Q53S62|Q96CJ9	Missense_Mutation	SNP	ENST00000317647.7	37	c.1201A>G	CCDS42771.1	.	.	.	.	.	.	.	.	.	.	A	14.37	2.514384	0.44763	.	.	ENSG00000163072	ENST00000458381;ENST00000444448;ENST00000317647;ENST00000445023;ENST00000397206;ENST00000397209;ENST00000421711	T;T;T;T;T;T;T	0.37915	1.39;1.39;1.17;1.38;1.38;1.37;1.37	5.8	4.62	0.57501	.	0.363837	0.31936	N	0.006824	T	0.32852	0.0843	M	0.73962	2.25	0.80722	D	1	B;B;B;B;B;B	0.30361	0.277;0.098;0.22;0.265;0.059;0.134	B;B;B;B;B;B	0.27380	0.079;0.079;0.054;0.053;0.033;0.05	T	0.09930	-1.0652	10	0.07482	T	0.82	-11.0621	9.8312	0.40944	0.8273:0.1727:0.0:0.0	.	373;323;458;295;401;458	Q8IVI9-2;Q8IVI9-3;B3KSF5;D3DPB9;Q8IVI9;E7EPT9	.;.;.;.;NOSTN_HUMAN;.	E	458;458;401;323;323;373;373	ENSP00000402140:K458E;ENSP00000394051:K458E;ENSP00000318921:K401E;ENSP00000404413:K323E;ENSP00000380390:K323E;ENSP00000380392:K373E;ENSP00000401316:K373E	ENSP00000318921:K401E	K	+	1	0	NOSTRIN	169425572	0.379000	0.25123	0.566000	0.28421	0.667000	0.39255	1.425000	0.34859	0.983000	0.38602	0.528000	0.53228	AAA		0.363	NOSTRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333356.4	NM_052946		7	81	0	0	0	0.00308	0	7	81				
ANKRD44	91526	broad.mit.edu	37	2	198051747	198051747	+	Splice_Site	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr2:198051747C>A	ENST00000328737.2	-	2	112	c.36G>T	c.(34-36)ctG>ctT	p.L12L	ANKRD44_ENST00000450567.1_Splice_Site_p.L12L|ANKRD44_ENST00000409919.1_Splice_Site_p.L37L|ANKRD44_ENST00000409153.1_Splice_Site_p.L37L|ANKRD44_ENST00000539527.1_5'UTR|ANKRD44_ENST00000282272.8_Splice_Site_p.L29L			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	37								p.L37L(2)|p.L12L(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TATCTCTTACCAGAGTATTCA	0.448																																							uc002uuc.2		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(4)|skin(1)	5						c.(109-111)CTG>CTT		ankyrin repeat domain 44							219.0	218.0	218.0					2																	198051747		2203	4300	6503	SO:0001630	splice_region_variant	91526						protein binding	g.chr2:198051747C>A	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.36+1G>T	2.37:g.198051747C>A						ANKRD44_uc002uua.1_Silent_p.L12L|ANKRD44_uc002uub.2_Silent_p.L37L|ANKRD44_uc010zgw.1_5'UTR|ANKRD44_uc002uud.1_Silent_p.L37L	p.L37L	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		2	278	-			37					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Silent	SNP	ENST00000328737.2	37	c.111G>T																																																																																					0.448	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697	Silent	13	200	1	0	3.27435e-08	0.00245	4.1862e-08	13	200				
SGOL2	151246	broad.mit.edu	37	2	201407368	201407368	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr2:201407368A>G	ENST00000357799.4	+	5	552	c.454A>G	c.(454-456)Atg>Gtg	p.M152V	SGOL2_ENST00000409203.3_Missense_Mutation_p.M152V|SGOL2_ENST00000469840.1_3'UTR	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	152					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.M152V(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GTGCAAGTTGATGCGTCTTCC	0.318																																							uc002uvw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(454-456)ATG>GTG		shugoshin-like 2 isoform 1							134.0	130.0	131.0					2																	201407368		1870	4100	5970	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201407368A>G	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.454A>G	2.37:g.201407368A>G	ENSP00000350447:p.Met152Val					SGOL2_uc002uvv.3_Missense_Mutation_p.M152V|SGOL2_uc010zhd.1_Missense_Mutation_p.M152V|SGOL2_uc010zhe.1_Missense_Mutation_p.M152V	p.M152V	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN			5	567	+			152					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.454A>G	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.872937	0.00542	.	.	ENSG00000163535	ENST00000357799;ENST00000409203	T;T	0.41065	1.01;1.01	5.2	-0.526	0.11913	.	1.358490	0.04624	N	0.402488	T	0.25938	0.0632	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.13594	0.008;0.008;0.008;0.0	B;B;B;B	0.08055	0.003;0.003;0.003;0.001	T	0.14144	-1.0483	10	0.19590	T	0.45	1.6825	4.6905	0.12778	0.5958:0.0:0.2532:0.151	.	152;152;152;152	B7Z7S9;Q562F6-2;Q562F6;Q562F6-3	.;.;SGOL2_HUMAN;.	V	152	ENSP00000350447:M152V;ENSP00000386249:M152V	ENSP00000350447:M152V	M	+	1	0	SGOL2	201115613	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.050000	0.14120	0.074000	0.16767	0.402000	0.26972	ATG		0.318	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		11	65	0	0	0	0.013537	0	11	65				
SPEG	10290	broad.mit.edu	37	2	220337808	220337808	+	Silent	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr2:220337808G>A	ENST00000312358.7	+	16	4269	c.4137G>A	c.(4135-4137)ctG>ctA	p.L1379L	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1379	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L1379L(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTGTGCAGCTGCTGGAGCACG	0.662																																							uc010fwg.2		NA																	1	Substitution - coding silent(1)		lung(1)	stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(4135-4137)CTG>CTA		SPEG complex locus							28.0	32.0	31.0					2																	220337808		2049	4192	6241	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220337808G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.4137G>A	2.37:g.220337808G>A							p.L1379L	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	16	4137	+		Renal(207;0.0183)	1379					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.4137G>A	CCDS42824.1																																																																																				0.662	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		9	24	0	0	0	0.006214	0	9	24				
ANKEF1	63926	broad.mit.edu	37	20	10030301	10030301	+	Missense_Mutation	SNP	G	G	T	rs142831233		TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr20:10030301G>T	ENST00000378380.3	+	6	1413	c.1084G>T	c.(1084-1086)Gtg>Ttg	p.V362L	SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.V362L|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	362	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.V362L(1)									CTTCGTGATGGTGTTGGAGGA	0.512																																							uc002wno.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1084-1086)GTG>TTG		ankyrin repeat domain protein 5							66.0	67.0	66.0					20																	10030301		2203	4300	6503	SO:0001583	missense	63926						calcium ion binding	g.chr20:10030301G>T	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.1084G>T	20.37:g.10030301G>T	ENSP00000367631:p.Val362Leu					uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Missense_Mutation_p.V362L|ANKRD5_uc010gbz.2_Missense_Mutation_p.V173L	p.V362L	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN			7	1477	+			362			EF-hand.		B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	c.1084G>T	CCDS13108.1	.	.	.	.	.	.	.	.	.	.	G	5.791	0.330322	0.10956	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.67345	-0.26;-0.26	5.6	-7.52	0.01341	Ankyrin repeat-containing domain (1);EF-hand-like domain (1);	0.904449	0.09822	N	0.751342	T	0.44705	0.1306	N	0.17082	0.46	0.09310	N	1	B	0.20368	0.044	B	0.18561	0.022	T	0.39313	-0.9620	10	0.12766	T	0.61	-12.4418	16.6103	0.84881	0.6463:0.0:0.3537:0.0	.	362	Q9NU02	ANKR5_HUMAN	L	362	ENSP00000367644:V362L;ENSP00000367631:V362L	ENSP00000367631:V362L	V	+	1	0	ANKRD5	9978301	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-0.326000	0.07965	-1.456000	0.01921	-0.355000	0.07637	GTG		0.512	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		5	61	1	0	3.59834e-05	0.001168	4.25067e-05	5	61				
BPIFB6	128859	broad.mit.edu	37	20	31624311	31624311	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr20:31624311C>G	ENST00000349552.1	+	7	638	c.638C>G	c.(637-639)aCc>aGc	p.T213S		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	213						extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.T213S(1)									GCACCAGCCACCACAGCCAGC	0.577																																							uc010zuc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(637-639)ACC>AGC		bactericidal/permeability-increasing							134.0	122.0	126.0					20																	31624311		2203	4300	6503	SO:0001583	missense	128859					extracellular region	lipid binding	g.chr20:31624311C>G	AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"""BPI fold containing"""	16504	protein-coding gene	gene with protein product		614110	"""bactericidal/permeability-increasing protein-like 3"""	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.638C>G	20.37:g.31624311C>G	ENSP00000344929:p.Thr213Ser					BPIL3_uc010zud.1_Missense_Mutation_p.T152S	p.T213S	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN			7	638	+			213						Missense_Mutation	SNP	ENST00000349552.1	37	c.638C>G	CCDS13211.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.308245	0.23821	.	.	ENSG00000167104	ENST00000349552	T	0.04758	3.56	4.47	4.47	0.54385	.	0.451063	0.20865	N	0.084267	T	0.07052	0.0179	M	0.68317	2.08	0.26930	N	0.96648	P	0.35745	0.518	B	0.30401	0.115	T	0.14364	-1.0475	10	0.42905	T	0.14	.	12.5512	0.56227	0.0:1.0:0.0:0.0	.	213	Q8NFQ5	BPIB6_HUMAN	S	213	ENSP00000344929:T213S	ENSP00000344929:T213S	T	+	2	0	BPIFB6	31087972	0.887000	0.30362	0.917000	0.36280	0.178000	0.23041	3.312000	0.51927	2.312000	0.78011	0.549000	0.68633	ACC		0.577	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897		11	139	0	0	0	0.010729	0	11	139				
KIAA1755	85449	broad.mit.edu	37	20	36856552	36856552	+	Silent	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr20:36856552G>A	ENST00000279024.4	-	6	2233	c.1962C>T	c.(1960-1962)acC>acT	p.T654T		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	654								p.T654T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CACTCACCTGGGTGGCCTGCA	0.642																																							uc002xhy.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(1960-1962)ACC>ACT		hypothetical protein LOC85449							29.0	30.0	30.0					20																	36856552		2201	4300	6501	SO:0001819	synonymous_variant	85449							g.chr20:36856552G>A	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1962C>T	20.37:g.36856552G>A						KIAA1755_uc002xhz.1_Silent_p.T654T	p.T654T	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN			6	2234	-		Myeloproliferative disorder(115;0.00874)	654					Q9C0A8	Silent	SNP	ENST00000279024.4	37	c.1962C>T	CCDS33467.1																																																																																				0.642	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		9	41	0	0	0	0.004482	0	9	41				
BPI	671	broad.mit.edu	37	20	36948635	36948635	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr20:36948635C>A	ENST00000262865.4	+	7	816	c.727C>A	c.(727-729)Cct>Act	p.P243T	CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	243	Cleavage sites for elastase. {ECO:0000255}.				defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)	p.P243T(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TCTGGTGGCACCTCCAGCAAC	0.517																																							uc002xib.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(727-729)CCT>ACT		bactericidal/permeability-increasing protein							97.0	78.0	85.0					20																	36948635		2203	4300	6503	SO:0001583	missense	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36948635C>A	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.727C>A	20.37:g.36948635C>A	ENSP00000262865:p.Pro243Thr						p.P243T	NM_001725	NP_001716	P17213	BPI_HUMAN			7	789	+		Myeloproliferative disorder(115;0.00878)	243			Cleavage sites for elastase (Potential).		B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	ENST00000262865.4	37	c.727C>A	CCDS13303.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.76|16.76	3.212078|3.212078	0.58452|0.58452	.|.	.|.	ENSG00000101425|ENSG00000101425	ENST00000417318|ENST00000262865	.|T	.|0.05025	.|3.51	4.08|4.08	1.94|1.94	0.25998|0.25998	.|Lipid-binding serum glycoprotein, N-terminal (1);Bactericidal permeability-increasing protein, alpha/beta domain (1);	.|0.106949	.|0.40302	.|N	.|0.001124	T|T	0.13756|0.13756	0.0333|0.0333	M|M	0.76328|0.76328	2.33|2.33	0.37885|0.37885	D|D	0.930501|0.930501	.|D	.|0.69078	.|0.997	.|P	.|0.54140	.|0.743	T|T	0.04840|0.04840	-1.0923|-1.0923	5|10	.|0.51188	.|T	.|0.08	-9.6299|-9.6299	7.1868|7.1868	0.25804|0.25804	0.0:0.7203:0.1753:0.1044|0.0:0.7203:0.1753:0.1044	.|.	.|243	.|P17213	.|BPI_HUMAN	Q|T	68|243	.|ENSP00000262865:P243T	.|ENSP00000262865:P243T	H|P	+|+	3|1	2|0	BPI|BPI	36382049|36382049	0.073000|0.073000	0.21202|0.21202	0.866000|0.866000	0.34008|0.34008	0.168000|0.168000	0.22595|0.22595	0.315000|0.315000	0.19451|0.19451	1.046000|1.046000	0.40249|0.40249	0.467000|0.467000	0.42956|0.42956	CAC|CCT		0.517	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		6	40	1	0	0.000157383	0.00308	0.000178604	6	40				
FAM83D	81610	broad.mit.edu	37	20	37570740	37570740	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr20:37570740G>T	ENST00000217429.4	+	2	753	c.712G>T	c.(712-714)Gat>Tat	p.D238Y		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	208					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.D238Y(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TATGTGCATGGATCTGAAAGT	0.423																																							uc002xjg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(712-714)GAT>TAT		hypothetical protein LOC81610							179.0	173.0	175.0					20																	37570740		1951	4155	6106	SO:0001583	missense	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37570740G>T	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.712G>T	20.37:g.37570740G>T	ENSP00000217429:p.Asp238Tyr					FAM83D_uc002xjf.2_Missense_Mutation_p.D238Y	p.D238Y	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN			2	753	+		Myeloproliferative disorder(115;0.00878)	208					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	c.712G>T	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288272	0.80803	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.11821	2.74	6.07	3.94	0.45596	.	0.097562	0.64402	D	0.000002	T	0.20007	0.0481	L	0.46157	1.445	0.40593	D	0.981508	D;D	0.58970	0.984;0.98	P;P	0.57620	0.824;0.73	T	0.02307	-1.1179	10	0.59425	D	0.04	.	4.6782	0.12722	0.4006:0.0:0.5994:0.0	.	208;192	Q9H4H8;Q9H4H8-2	FA83D_HUMAN;.	Y	238;192	ENSP00000217429:D238Y	ENSP00000217429:D238Y	D	+	1	0	FAM83D	37004154	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.391000	0.59652	1.577000	0.49804	0.655000	0.94253	GAT		0.423	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			21	131	1	0	1.10513e-12	0.014323	1.47839e-12	21	131				
PABPC1L	80336	broad.mit.edu	37	20	43566779	43566779	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr20:43566779G>C	ENST00000217073.2	+	13	1723	c.1723G>C	c.(1723-1725)Gac>Cac	p.D575H	PABPC1L_ENST00000217075.2_Missense_Mutation_p.D129H|PABPC1L_ENST00000255136.3_Missense_Mutation_p.D575H|PABPC1L_ENST00000372824.1_Missense_Mutation_p.D129H|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Missense_Mutation_p.D129H			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	575	PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.D575H(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						GCTGGAGATTGACAACTCAGA	0.587																																							uc010ggv.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1723-1725)GAC>CAC		poly(A)-binding protein, cytoplasmic 1-like							70.0	61.0	64.0					20																	43566779		1568	3582	5150	SO:0001583	missense	80336						nucleotide binding|RNA binding	g.chr20:43566779G>C	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.1723G>C	20.37:g.43566779G>C	ENSP00000217073:p.Asp575His					PABPC1L_uc010zwq.1_RNA|PABPC1L_uc002xmv.2_RNA|PABPC1L_uc002xmw.2_Missense_Mutation_p.D129H|PABPC1L_uc002xmx.2_Missense_Mutation_p.D129H	p.D575H	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN			13	1805	+			575			PABC.		Q4VY17	Missense_Mutation	SNP	ENST00000217073.2	37	c.1723G>C	CCDS42878.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.673681|4.673681	0.88445|0.88445	.|.	.|.	ENSG00000101104|ENSG00000101104	ENST00000255136;ENST00000421240;ENST00000217073;ENST00000372824;ENST00000372819;ENST00000217075|ENST00000372821;ENST00000372826;ENST00000372822	T;T;T;T;T|.	0.56941|.	0.43;0.43;0.43;0.43;0.43|.	4.72|4.72	4.72|4.72	0.59763|0.59763	Polyadenylate-binding protein/Hyperplastic disc protein (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86961|0.86961	0.6059|0.6059	H|H	0.94462|0.94462	3.54|3.54	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	D|D	0.90761|0.90761	0.4665|0.4665	10|6	0.87932|0.72032	D|D	0|0.01	.|.	17.8816|17.8816	0.88842|0.88842	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	575;129|.	Q4VXU2;G5E9L3|.	PAP1L_HUMAN;.|.	H|F	575;129;575;129;129;129|156;110;97	ENSP00000255136:D575H;ENSP00000217073:D575H;ENSP00000361911:D129H;ENSP00000361906:D129H;ENSP00000217075:D129H|.	ENSP00000217073:D575H|ENSP00000361908:L156F	D|L	+|+	1|3	0|2	PABPC1L|PABPC1L	43000193|43000193	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	9.657000|9.657000	0.98554|0.98554	2.459000|2.459000	0.83118|0.83118	0.591000|0.591000	0.81541|0.81541	GAC|TTG		0.587	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2			5	38	0	0	0	0.001168	0	5	38				
STX16	8675	broad.mit.edu	37	20	57242593	57242593	+	Silent	SNP	A	A	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr20:57242593A>G	ENST00000371141.4	+	3	916	c.192A>G	c.(190-192)ccA>ccG	p.P64P	STX16-NPEPL1_ENST00000530122.1_Silent_p.P64P|STX16_ENST00000496003.1_3'UTR|STX16_ENST00000359617.4_Silent_p.P11P|STX16_ENST00000371132.4_Silent_p.P43P|STX16_ENST00000361770.5_Silent_p.P47P|STX16_ENST00000355957.5_Silent_p.P47P|STX16_ENST00000358029.4_Silent_p.P60P|STX16_ENST00000361830.3_Silent_p.P64P	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	64					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.P43P(1)		breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			GCTTAGATCCAGAAGCAGCGA	0.413																																							uc002xzi.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(190-192)CCA>CCG		syntaxin 16 isoform a							142.0	131.0	135.0					20																	57242593		2203	4300	6503	SO:0001819	synonymous_variant	8675				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity	g.chr20:57242593A>G	AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.192A>G	20.37:g.57242593A>G						STX16_uc010zzq.1_5'UTR|STX16_uc002xzk.2_Silent_p.P47P|STX16_uc002xzm.2_Silent_p.P60P|STX16_uc002xzj.2_Silent_p.P43P|STX16_uc002xzl.2_5'UTR	p.P64P	NM_001001433	NP_001001433	O14662	STX16_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)		3	927	+	all_lung(29;0.0175)		64			Cytoplasmic (Potential).		A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Silent	SNP	ENST00000371141.4	37	c.192A>G	CCDS13468.1																																																																																				0.413	STX16-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080517.2	NM_001001433		7	74	0	0	0	0.004482	0	7	74				
TPTE	7179	broad.mit.edu	37	21	10934993	10934993	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr21:10934993A>T	ENST00000361285.4	-	15	1129	c.800T>A	c.(799-801)gTt>gAt	p.V267D	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.V229D|TPTE_ENST00000298232.7_Missense_Mutation_p.V249D	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	267	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.V249D(1)|p.V267D(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAACCGCACAACTTCCTAAAA	0.333																																							uc002yip.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(799-801)GTT>GAT		transmembrane phosphatase with tensin homology							197.0	179.0	185.0					21																	10934993		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10934993A>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.800T>A	21.37:g.10934993A>T	ENSP00000355208:p.Val267Asp					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.V249D|TPTE_uc002yir.1_Missense_Mutation_p.V229D|TPTE_uc010gkv.1_Missense_Mutation_p.V129D	p.V267D	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	15	1168	-			267			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.800T>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	12.41	1.928507	0.34002	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.99270	-5.66;-5.66;-5.66	2.25	2.25	0.28309	Phosphatase tensin type (1);	0.143577	0.46758	U	0.000275	D	0.99474	0.9813	H	0.97131	3.945	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.997;0.998	D	0.98808	1.0742	10	0.87932	D	0	-34.3067	6.47	0.22003	1.0:0.0:0.0:0.0	.	229;249;267	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	D	249;267;229	ENSP00000298232:V249D;ENSP00000355208:V267D;ENSP00000344441:V229D	ENSP00000298232:V249D	V	-	2	0	TPTE	9956864	1.000000	0.71417	0.962000	0.40283	0.176000	0.22953	6.708000	0.74660	1.295000	0.44724	0.163000	0.16589	GTT		0.333	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			5	104	0	0	0	0.000602	0	5	104				
ITSN1	6453	broad.mit.edu	37	21	35208915	35208915	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr21:35208915G>C	ENST00000381318.3	+	29	3928	c.3640G>C	c.(3640-3642)Gac>Cac	p.D1214H	ITSN1_ENST00000399352.1_Missense_Mutation_p.D1209H|ITSN1_ENST00000399353.1_Missense_Mutation_p.D1172H|ITSN1_ENST00000399349.1_Missense_Mutation_p.D1138H|ITSN1_ENST00000399367.3_Missense_Mutation_p.D1209H|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000379960.5_3'UTR|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.D1209H|ITSN1_ENST00000399355.2_Missense_Mutation_p.D1143H|ITSN1_ENST00000381291.4_Missense_Mutation_p.D1214H|ITSN1_ENST00000381285.4_Missense_Mutation_p.D1214H	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1214	SH3 5. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D1214H(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GCTGACCACAGACATGGACCC	0.522																																							uc002yta.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(3640-3642)GAC>CAC		intersectin 1 isoform ITSN-l							104.0	94.0	98.0					21																	35208915		2203	4300	6503	SO:0001583	missense	6453				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 vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35208915G>C	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3640G>C	21.37:g.35208915G>C	ENSP00000370719:p.Asp1214His					DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.D1138H|ITSN1_uc010gmg.2_Missense_Mutation_p.D1101H|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.D1214H|ITSN1_uc010gmi.2_Missense_Mutation_p.D1177H|ITSN1_uc010gmj.2_Missense_Mutation_p.D1093H|ITSN1_uc002ysy.2_Missense_Mutation_p.D1209H|ITSN1_uc002ysx.2_Missense_Mutation_p.D1172H|ITSN1_uc002ytb.1_Missense_Mutation_p.D1209H|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.D1106H|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.D1209H|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.D1077H|ITSN1_uc002yti.1_RNA	p.D1214H	NM_003024	NP_003015	Q15811	ITSN1_HUMAN			29	3908	+			1214			SH3 5.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.3640G>C	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507303	0.64410	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000437442	T;T;T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54	4.51	4.51	0.55191	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	T	0.51024	0.1650	L	0.52573	1.65	0.80722	D	1	D;D;P;D;D;D;D;D;D	0.89917	1.0;1.0;0.728;0.999;0.994;1.0;0.998;0.995;1.0	D;D;P;D;D;D;P;D;D	0.91635	0.994;0.999;0.62;0.967;0.994;0.927;0.84;0.941;0.998	T	0.55379	-0.8150	10	0.72032	D	0.01	.	17.2445	0.87023	0.0:0.0:1.0:0.0	.	1106;1177;1101;1209;1143;1209;1214;1138;1172	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;ITSN1_HUMAN;.;.	H	1172;1214;1214;1214;1143;1209;1209;1143;1138;1209	ENSP00000382290:D1172H;ENSP00000370719:D1214H;ENSP00000370691:D1214H;ENSP00000370685:D1214H;ENSP00000382301:D1209H;ENSP00000382289:D1209H;ENSP00000382292:D1143H;ENSP00000382286:D1138H;ENSP00000387377:D1209H	ENSP00000370685:D1214H	D	+	1	0	ITSN1	34130785	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.268000	0.95675	2.059000	0.61396	0.637000	0.83480	GAC		0.522	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		9	71	0	0	0	0.006214	0	9	71				
LARGE	9215	broad.mit.edu	37	22	34157357	34157357	+	Splice_Site	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr22:34157357C>T	ENST00000354992.2	-	3	678		c.e3+1		LARGE_ENST00000402320.1_Splice_Site|LARGE_ENST00000337431.2_Splice_Site|LARGE_ENST00000397394.2_Splice_Site|LARGE_ENST00000437602.2_Splice_Site	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase						glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TCCATTCTTACCTTCGAAGCT	0.468																																					Colon(70;397 1175 4573 19089 45288)	Colon(70;397 1175 4573 19089 45288)	uc003and.3		NA																	1	Unknown(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.e3+1		like-glycosyltransferase							137.0	136.0	136.0					22																	34157357		2203	4300	6503	SO:0001630	splice_region_variant	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:34157357C>T	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.106+1G>A	22.37:g.34157357C>T						LARGE_uc003ane.3_Splice_Site_p.D36_splice|LARGE_uc010gwp.2_Splice_Site_p.D36_splice|LARGE_uc011ame.1_Intron|LARGE_uc011amf.1_Splice_Site_p.D36_splice	p.D36_splice	NM_004737	NP_004728	O95461	LARGE_HUMAN			3	685	-		Lung NSC(1;0.219)						B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Splice_Site	SNP	ENST00000354992.2	37	c.106_splice	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598455	0.87055	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000437602;ENST00000430220;ENST00000413114;ENST00000434071;ENST00000432776;ENST00000423375	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.814	0.92070	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LARGE	32487357	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.819000	0.75262	2.680000	0.91292	0.561000	0.74099	.		0.468	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642	Intron	8	128	0	0	0	0.010729	0	8	128				
TCF20	6942	broad.mit.edu	37	22	42608568	42608568	+	Missense_Mutation	SNP	A	A	T	rs200895127		TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr22:42608568A>T	ENST00000359486.3	-	1	2880	c.2744T>A	c.(2743-2745)gTg>gAg	p.V915E	TCF20_ENST00000335626.4_Missense_Mutation_p.V915E|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	915					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.V915E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TTCCATGGACACCAAACCACC	0.463																																							uc003bcj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(2743-2745)GTG>GAG		transcription factor 20 isoform 1							54.0	50.0	52.0					22																	42608568		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42608568A>T	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.2744T>A	22.37:g.42608568A>T	ENSP00000352463:p.Val915Glu					TCF20_uc003bck.1_Missense_Mutation_p.V915E|TCF20_uc003bnt.2_Missense_Mutation_p.V915E	p.V915E	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN			1	2878	-			915					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.2744T>A	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	A	16.00	2.998803	0.54147	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.63913	-0.07;-0.07	5.36	5.36	0.76844	.	0.092099	0.47093	D	0.000260	T	0.66117	0.2757	N	0.19112	0.55	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.66351	0.943;0.878	T	0.71586	-0.4548	10	0.87932	D	0	-12.6495	15.5191	0.75851	1.0:0.0:0.0:0.0	.	915;915	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	E	915	ENSP00000352463:V915E;ENSP00000335561:V915E	ENSP00000335561:V915E	V	-	2	0	TCF20	40938512	0.999000	0.42202	0.995000	0.50966	0.888000	0.51559	5.077000	0.64419	2.239000	0.73571	0.533000	0.62120	GTG		0.463	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		3	49	0	0	0	0.004672	0	3	49				
ARPP21	10777	broad.mit.edu	37	3	35785425	35785425	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr3:35785425G>T	ENST00000187397.4	+	18	2456	c.2000G>T	c.(1999-2001)aGt>aTt	p.S667I	ARPP21_ENST00000337271.5_Missense_Mutation_p.S648I|ARPP21_ENST00000417925.1_Missense_Mutation_p.S668I|ARPP21_ENST00000444190.1_Missense_Mutation_p.S648I|MIR128-2_ENST00000384893.1_RNA|ARPP21_ENST00000458225.1_Missense_Mutation_p.S668I	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	667	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.S667I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GCTCAGAGGAGTCAACAGATG	0.493																																							uc003cgb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1999-2001)AGT>ATT		cyclic AMP-regulated phosphoprotein, 21 kD							116.0	110.0	112.0					3																	35785425		2203	4300	6503	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35785425G>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.2000G>T	3.37:g.35785425G>T	ENSP00000187397:p.Ser667Ile					ARPP21_uc003cga.2_Missense_Mutation_p.S648I|ARPP21_uc011axy.1_Missense_Mutation_p.S668I|ARPP21_uc003cgf.2_Missense_Mutation_p.S503I|ARPP21_uc003cgg.2_Missense_Mutation_p.S190I|uc011axz.1_5'Flank|MIR128-2_hsa-mir-128-2|MI0000727_5'Flank	p.S667I	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			18	2264	+			667			Gln-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.2000G>T	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421773	0.62622	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	5.82	0.64	0.17752	.	0.537093	0.20689	N	0.087487	T	0.52273	0.1724	M	0.64997	1.995	0.24601	N	0.993777	B;P;B;B	0.43633	0.321;0.813;0.215;0.321	B;P;B;B	0.46479	0.216;0.518;0.099;0.216	T	0.46843	-0.9162	10	0.41790	T	0.15	0.4724	10.0041	0.41946	0.1319:0.5195:0.3487:0.0	.	668;190;667;648	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	I	668;648;648;667;668	ENSP00000414351:S668I;ENSP00000337792:S648I;ENSP00000405276:S648I;ENSP00000187397:S667I;ENSP00000412326:S668I	ENSP00000187397:S667I	S	+	2	0	ARPP21	35760429	0.967000	0.33354	0.274000	0.24659	0.988000	0.76386	0.811000	0.27198	-0.196000	0.10366	0.655000	0.94253	AGT		0.493	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		8	94	1	0	5.18039e-06	0.00308	6.30385e-06	8	94				
TNNC1	7134	broad.mit.edu	37	3	52486123	52486123	+	Splice_Site	SNP	G	G	A	rs150881554		TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr3:52486123G>A	ENST00000232975.3	-	3	255	c.201C>T	c.(199-201)gaC>gaT	p.D67D		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	67	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of muscle contraction (GO:0006937)|regulation of muscle filament sliding speed (GO:0032972)|response to metal ion (GO:0010038)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|troponin complex (GO:0005861)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)|troponin I binding (GO:0031013)|troponin T binding (GO:0031014)	p.D67D(1)		endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Felodipine(DB01023)|Levosimendan(DB00922)|Trifluoperazine(DB00831)	GGGGCTCACCGTCCTCGTCCA	0.617													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18324	0.0		0.0	False		,,,				2504	0.0						uc003deb.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(199-201)GAC>GAT		troponin C, slow	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	G		8,4398	14.3+/-33.2	0,8,2195	84.0	86.0	86.0		201	-6.6	0.9	3	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous-near-splice	TNNC1	NM_003280.2		0,9,6494	AA,AG,GG		0.0116,0.1816,0.0692		67/162	52486123	9,12997	2203	4300	6503	SO:0001630	splice_region_variant	7134				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding	g.chr3:52486123G>A		CCDS2857.1	3p21.1	2014-09-17	2005-09-12		ENSG00000114854	ENSG00000114854		"""EF-hand domain containing"""	11943	protein-coding gene	gene with protein product		191040	"""troponin C, slow"""	TNNC			Standard	NM_003280		Approved		uc003deb.3	P63316	OTTHUMG00000158572	ENST00000232975.3:c.202+1C>T	3.37:g.52486123G>A							p.D67D	NM_003280	NP_003271	P63316	TNNC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	3	227	-			67			EF-hand 2.|1.		O14800|P02590|P04463	Silent	SNP	ENST00000232975.3	37	c.201C>T	CCDS2857.1																																																																																				0.617	TNNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351371.1		Silent	23	119	0	0	0	0.00333	0	23	119				
DPPA2	151871	broad.mit.edu	37	3	109023457	109023457	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr3:109023457C>T	ENST00000478945.1	-	7	965	c.719G>A	c.(718-720)cGc>cAc	p.R240H		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	240					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)	p.R240H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAACTGCAGGCGTACCCAACC	0.502																																							uc003dxo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(718-720)CGC>CAC		developmental pluripotency associated 2							79.0	73.0	75.0					3																	109023457		2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109023457C>T	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.719G>A	3.37:g.109023457C>T	ENSP00000417710:p.Arg240His						p.R240H	NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN			7	966	-			240					Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.719G>A	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.144404	0.57044	.	.	ENSG00000163530	ENST00000478945	T	0.33654	1.4	5.2	4.29	0.51040	.	0.121143	0.38381	N	0.001712	T	0.40015	0.1100	L	0.31804	0.96	0.32641	N	0.520702	D	0.67145	0.996	P	0.61070	0.883	T	0.38265	-0.9669	10	0.31617	T	0.26	-10.527	10.8168	0.46580	0.0:0.7936:0.2064:0.0	.	240	Q7Z7J5	DPPA2_HUMAN	H	240	ENSP00000417710:R240H	ENSP00000417710:R240H	R	-	2	0	DPPA2	110506147	0.998000	0.40836	1.000000	0.80357	0.852000	0.48524	1.089000	0.30890	2.705000	0.92388	0.555000	0.69702	CGC		0.502	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		13	61	0	0	0	0.001855	0	13	61				
HEG1	57493	broad.mit.edu	37	3	124738228	124738228	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr3:124738228G>A	ENST00000311127.4	-	5	1533	c.1466C>T	c.(1465-1467)tCa>tTa	p.S489L	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	489	Ser-rich.				cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.S489L(1)|p.S489*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						AGTAGAGTCTGAGAACTGGGT	0.463																																							uc003ehs.3		NA																	2	Substitution - Missense(1)|Substitution - Nonsense(1)		urinary_tract(1)|lung(1)	ovary(2)	2						c.(1465-1467)TCA>TTA		HEG homolog 1 precursor							223.0	211.0	215.0					3																	124738228		2003	4197	6200	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124738228G>A	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1466C>T	3.37:g.124738228G>A	ENSP00000311502:p.Ser489Leu					HEG1_uc011bke.1_Missense_Mutation_p.S489L	p.S489L	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN			5	1534	-			489			Extracellular (Potential).|Ser-rich.		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.1466C>T	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.335403	0.60853	.	.	ENSG00000173706	ENST00000311127	D	0.94613	-3.47	4.92	4.04	0.47022	.	.	.	.	.	D	0.92361	0.7576	M	0.62723	1.935	0.09310	N	1	B;B	0.27882	0.192;0.031	B;B	0.27262	0.078;0.036	D	0.87142	0.2203	9	0.87932	D	0	.	8.9755	0.35932	0.1:0.0:0.9:0.0	.	489;489	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	L	489	ENSP00000311502:S489L	ENSP00000311502:S489L	S	-	2	0	HEG1	126220918	0.241000	0.23857	0.002000	0.10522	0.055000	0.15305	3.338000	0.52128	1.289000	0.44618	0.650000	0.86243	TCA		0.463	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		18	176	0	0	0	0.006122	0	18	176				
HEG1	57493	broad.mit.edu	37	3	124738360	124738360	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr3:124738360G>A	ENST00000311127.4	-	5	1401	c.1334C>T	c.(1333-1335)tCa>tTa	p.S445L	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	445					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.S445L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GGGTGCGACTGACCTAGACAC	0.493																																							uc003ehs.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1333-1335)TCA>TTA		HEG homolog 1 precursor							196.0	189.0	191.0					3																	124738360		2106	4243	6349	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124738360G>A	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1334C>T	3.37:g.124738360G>A	ENSP00000311502:p.Ser445Leu					HEG1_uc011bke.1_Missense_Mutation_p.S445L	p.S445L	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN			5	1402	-			445			Extracellular (Potential).		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.1334C>T	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332234	0.41297	.	.	ENSG00000173706	ENST00000311127	D	0.89050	-2.46	5.39	4.45	0.53987	.	.	.	.	.	D	0.90628	0.7061	M	0.62723	1.935	0.09310	N	1	D;D	0.63046	0.992;0.973	P;P	0.55161	0.77;0.593	T	0.82768	-0.0294	9	0.41790	T	0.15	.	10.8543	0.46789	0.0977:0.0:0.9023:0.0	.	445;445	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	L	445	ENSP00000311502:S445L	ENSP00000311502:S445L	S	-	2	0	HEG1	126221050	0.250000	0.23951	0.008000	0.14137	0.005000	0.04900	3.254000	0.51477	2.810000	0.96702	0.650000	0.86243	TCA		0.493	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		13	201	0	0	0	0.001855	0	13	201				
ACKR4	51554	broad.mit.edu	37	3	132319791	132319791	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr3:132319791T>A	ENST00000249887.2	+	2	646	c.550T>A	c.(550-552)Tgc>Agc	p.C184S	ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000545291.1_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	Q9NPB9	ACKR4_HUMAN	atypical chemokine receptor 4	184					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)	p.C184S(1)									CAATGCTAGGTGCATTCCCAT	0.433																																						Pancreas(96;1505 1524 4501 17831 18121)	uc003eow.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(550-552)TGC>AGC		chemokine (C-C motif) receptor-like 1							17.0	16.0	17.0					3																	132319791		2195	4274	6469	SO:0001583	missense	51554				chemotaxis|immune response	integral to plasma membrane	C-C chemokine receptor activity	g.chr3:132319791T>A	AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048		"""GPCR / Class A : Chemokine receptors : Atypical"""	1611	protein-coding gene	gene with protein product		606065	"""chemokine (C-C motif) receptor-like 1"""	CCRL1		10767544, 16148	Standard	NM_016557		Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	ENST00000249887.2:c.550T>A	3.37:g.132319791T>A	ENSP00000249887:p.Cys184Ser					ACAD11_uc003eov.3_Intron|ACAD11_uc011blr.1_Intron|CCRL1_uc003eox.2_Missense_Mutation_p.C184S	p.C184S	NM_016557	NP_057641	Q9NPB9	CCRL1_HUMAN			2	633	+			184			Extracellular (Potential).		B2R9U7	Missense_Mutation	SNP	ENST00000249887.2	37	c.550T>A	CCDS3075.1	.	.	.	.	.	.	.	.	.	.	T	19.28	3.797079	0.70567	.	.	ENSG00000129048	ENST00000249887;ENST00000424114	T	0.62364	0.03	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.86251	0.5888	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90793	0.4688	10	0.72032	D	0.01	.	16.0796	0.80995	0.0:0.0:0.0:1.0	.	184	Q9NPB9	CCRL1_HUMAN	S	184	ENSP00000249887:C184S	ENSP00000249887:C184S	C	+	1	0	CCRL1	133802481	1.000000	0.71417	0.288000	0.24862	0.972000	0.66771	4.985000	0.63845	2.206000	0.71126	0.533000	0.62120	TGC		0.433	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357238.2	NM_016557		5	12	0	0	0	0.001168	0	5	12				
NLGN1	22871	broad.mit.edu	37	3	173322869	173322869	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr3:173322869C>A	ENST00000457714.1	+	3	910	c.481C>A	c.(481-483)Ccg>Acg	p.P161T	NLGN1_ENST00000401917.3_Missense_Mutation_p.P161T|NLGN1_ENST00000361589.4_Missense_Mutation_p.P161T|NLGN1_ENST00000545397.1_Missense_Mutation_p.P161T	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	161					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.P161T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TATATATGTCCCGACTGAGGA	0.338																																							uc003fio.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(481-483)CCG>ACG		neuroligin 1							73.0	77.0	76.0					3																	173322869		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173322869C>A	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.481C>A	3.37:g.173322869C>A	ENSP00000392500:p.Pro161Thr					NLGN1_uc010hww.1_Missense_Mutation_p.P161T|NLGN1_uc003fip.1_Missense_Mutation_p.P161T	p.P161T	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		3	904	+	Ovarian(172;0.0025)		161			Extracellular (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.481C>A	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.416792	0.62511	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	T;T;T;T;T	0.77358	-1.08;-1.08;-1.09;-1.08;-1.08	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000002	D	0.90249	0.6951	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91059	0.4884	10	0.87932	D	0	.	20.0185	0.97487	0.0:1.0:0.0:0.0	.	161;161	D2X2H5;Q8N2Q7-2	.;.	T	161	ENSP00000392500:P161T;ENSP00000354541:P161T;ENSP00000410374:P161T;ENSP00000441108:P161T;ENSP00000385750:P161T	ENSP00000354541:P161T	P	+	1	0	NLGN1	174805563	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	7.445000	0.80570	2.809000	0.96659	0.467000	0.42956	CCG		0.338	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		4	100	1	0	0.00909568	0.009096	0.00967014	4	100				
EIF4G1	1981	broad.mit.edu	37	3	184049592	184049592	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr3:184049592T>A	ENST00000346169.2	+	31	4743	c.4472T>A	c.(4471-4473)aTt>aAt	p.I1491N	EIF4G1_ENST00000435046.2_Missense_Mutation_p.I1295N|EIF4G1_ENST00000427845.1_Missense_Mutation_p.I1405N|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.I1328N|EIF4G1_ENST00000392537.2_Missense_Mutation_p.I1404N|EIF4G1_ENST00000414031.1_Missense_Mutation_p.I1451N|EIF4G1_ENST00000350481.5_Missense_Mutation_p.I1327N|EIF4G1_ENST00000434061.2_Missense_Mutation_p.I1296N|EIF4G1_ENST00000382330.3_Missense_Mutation_p.I1498N|EIF4G1_ENST00000352767.3_Missense_Mutation_p.I1498N|EIF4G1_ENST00000319274.6_Missense_Mutation_p.I1491N|EIF4G1_ENST00000424196.1_Missense_Mutation_p.I1498N|EIF4G1_ENST00000342981.4_Missense_Mutation_p.I1492N|EIF4G1_ENST00000411531.1_Missense_Mutation_p.I1452N	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1491	EIF4A-binding.|W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.I1491N(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TATTCTGCAATTATTTGTAAG	0.537																																							uc003fnp.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(4471-4473)ATT>AAT		eukaryotic translation initiation factor 4							76.0	79.0	78.0					3																	184049592		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184049592T>A	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.4472T>A	3.37:g.184049592T>A	ENSP00000316879:p.Ile1491Asn					EIF4G1_uc003fnt.2_Missense_Mutation_p.I1202N|EIF4G1_uc003fnq.2_Missense_Mutation_p.I1404N|EIF4G1_uc003fnr.2_Missense_Mutation_p.I1327N|EIF4G1_uc010hxx.2_Missense_Mutation_p.I1498N|EIF4G1_uc003fns.2_Missense_Mutation_p.I1451N|EIF4G1_uc010hxy.2_Missense_Mutation_p.I1498N|EIF4G1_uc003fnv.3_Missense_Mutation_p.I1492N|EIF4G1_uc003fnu.3_Missense_Mutation_p.I1491N|EIF4G1_uc003fnw.2_Missense_Mutation_p.I1498N|EIF4G1_uc003fnx.2_Missense_Mutation_p.I1296N|EIF4G1_uc003fny.3_Missense_Mutation_p.I1295N|EIF4G1_uc003foa.2_Missense_Mutation_p.I163N	p.I1491N	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		31	4670	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1491			W2.|EIF4A-binding.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.4472T>A	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.264017	0.80358	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.05649	3.64;3.64;3.55;3.65;3.45;3.65;3.56;3.65;3.64;3.65;3.64;3.44;3.41;3.41	5.07	5.07	0.68467	eIF4-gamma/eIF5/eIF2-epsilon (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.100261	0.64402	D	0.000003	T	0.29458	0.0734	M	0.87900	2.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.993;0.996;0.996	T	0.11324	-1.0592	10	0.87932	D	0	-6.5872	14.0461	0.64706	0.0:0.0:0.0:1.0	.	1498;1492;1491	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	N	1491;1451;1404;1498;1327;1498;1405;1492;1491;1498;1452;1328;1296;1295	ENSP00000316879:I1491N;ENSP00000391935:I1451N;ENSP00000376320:I1404N;ENSP00000371767:I1498N;ENSP00000317600:I1327N;ENSP00000338020:I1498N;ENSP00000407682:I1405N;ENSP00000343450:I1492N;ENSP00000323737:I1491N;ENSP00000416255:I1498N;ENSP00000395974:I1452N;ENSP00000399858:I1328N;ENSP00000411826:I1296N;ENSP00000404754:I1295N	ENSP00000323737:I1491N	I	+	2	0	EIF4G1	185532286	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	7.626000	0.83164	1.913000	0.55393	0.369000	0.22263	ATT		0.537	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		7	80	0	0	0	0.001984	0	7	80				
MSX1	4487	broad.mit.edu	37	4	4864799	4864799	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr4:4864799G>A	ENST00000382723.4	+	2	1075	c.841G>A	c.(841-843)Gcc>Acc	p.A281T		NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	281					activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.A281T(1)		endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTTCCAGCGCGCCGCGCTGCC	0.711																																							uc003gif.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(841-843)GCC>ACC		msh homeobox 1							9.0	11.0	10.0					4																	4864799		2126	4156	6282	SO:0001583	missense	4487				apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity	g.chr4:4864799G>A	M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"""Homeoboxes / ANTP class : NKL subclass"""	7391	protein-coding gene	gene with protein product		142983	"""msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)"", ""msh homeobox homolog 1 (Drosophila)"""	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.841G>A	4.37:g.4864799G>A	ENSP00000372170:p.Ala281Thr						p.A281T	NM_002448	NP_002439	P28360	MSX1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	2	1076	+			275					A0SZU5|A8K3M1|Q96NY4	Missense_Mutation	SNP	ENST00000382723.4	37	c.841G>A	CCDS3378.2	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414352	0.62511	.	.	ENSG00000163132	ENST00000382723	D	0.89415	-2.51	4.81	4.81	0.61882	.	0.109289	0.64402	D	0.000009	T	0.78149	0.4238	N	0.24115	0.695	0.80722	D	1	D	0.53462	0.96	B	0.33392	0.163	T	0.80903	-0.1174	10	0.41790	T	0.15	-6.8734	13.9514	0.64118	0.0:0.1519:0.848:0.0	.	275	P28360	MSX1_HUMAN	T	281	ENSP00000372170:A281T	ENSP00000372170:A281T	A	+	1	0	MSX1	4915700	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	5.677000	0.68142	2.375000	0.81037	0.462000	0.41574	GCC		0.711	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206700.3			3	31	0	0	0	0.004672	0	3	31				
PDS5A	23244	broad.mit.edu	37	4	39871068	39871068	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr4:39871068C>G	ENST00000303538.8	-	22	2990	c.2451G>C	c.(2449-2451)aaG>aaC	p.K817N		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)									p.K817N(1)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GTTTTCCATTCTTTTCACCTG	0.318																																							uc003guv.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2449-2451)AAG>AAC		PDS5, regulator of cohesion maintenance, homolog							161.0	152.0	155.0					4																	39871068		1811	4083	5894	SO:0001583	missense	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39871068C>G	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.2451G>C	4.37:g.39871068C>G	ENSP00000303427:p.Lys817Asn					PDS5A_uc010ifo.2_Missense_Mutation_p.K777N	p.K817N	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN			22	2991	-			817						Missense_Mutation	SNP	ENST00000303538.8	37	c.2451G>C	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.242650	0.39598	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.5	3.7	0.42460	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58380	0.2118	L	0.43152	1.355	0.80722	D	1	P	0.46952	0.887	P	0.53954	0.738	T	0.52983	-0.8502	8	.	.	.	-16.7388	8.9885	0.36008	0.0:0.7226:0.0:0.2774	.	817	Q29RF7	PDS5A_HUMAN	N	817	.	.	K	-	3	2	PDS5A	39547463	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.042000	0.41222	0.636000	0.30508	0.655000	0.94253	AAG		0.318	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		14	188	0	0	0	0.004007	0	14	188				
KIAA1211	57482	broad.mit.edu	37	4	57190403	57190403	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr4:57190403A>T	ENST00000504228.1	+	8	3617	c.3512A>T	c.(3511-3513)aAg>aTg	p.K1171M	KIAA1211_ENST00000541073.1_Missense_Mutation_p.K1164M|KIAA1211_ENST00000264229.6_Missense_Mutation_p.K1171M			Q6ZU35	K1211_HUMAN	KIAA1211	1171								p.K1171M(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CAGCTGAAAAAGGCCAATACT	0.507																																							uc003hbk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(3511-3513)AAG>ATG		hypothetical protein LOC57482							69.0	72.0	71.0					4																	57190403		2028	4193	6221	SO:0001583	missense	57482							g.chr4:57190403A>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3512A>T	4.37:g.57190403A>T	ENSP00000423366:p.Lys1171Met					KIAA1211_uc010iha.2_Missense_Mutation_p.K1164M	p.K1171M	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			10	3903	+	Glioma(25;0.08)|all_neural(26;0.101)		1171					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.3512A>T	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.617340	0.87359	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	T;T;T	0.78246	-1.16;-1.16;-1.16	5.33	5.33	0.75918	.	.	.	.	.	D	0.86756	0.6009	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88203	0.2885	9	0.87932	D	0	-30.9769	15.466	0.75400	1.0:0.0:0.0:0.0	.	1164;1171	F5H1N7;Q6ZU35	.;K1211_HUMAN	M	1171;1171;1164	ENSP00000264229:K1171M;ENSP00000423366:K1171M;ENSP00000444006:K1164M	ENSP00000264229:K1171M	K	+	2	0	KIAA1211	56885160	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.670000	0.91168	2.237000	0.73441	0.459000	0.35465	AAG		0.507	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		8	38	0	0	0	0.006214	0	8	38				
UGT2B11	10720	broad.mit.edu	37	4	70066243	70066243	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr4:70066243G>T	ENST00000446444.1	-	6	1513	c.1505C>A	c.(1504-1506)gCa>gAa	p.A502E	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	502					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.A502E(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TATCACAGTTGCCACACAGGC	0.438																																							uc003heh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(1504-1506)GCA>GAA		UDP glucuronosyltransferase 2 family,							143.0	136.0	138.0					4																	70066243		2203	4300	6503	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70066243G>T	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.1505C>A	4.37:g.70066243G>T	ENSP00000387683:p.Ala502Glu					uc003hei.1_RNA	p.A502E	NM_001073	NP_001064	O75310	UDB11_HUMAN			6	1514	-			502			Helical; (Potential).		Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.1505C>A	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	11.21	1.571638	0.28003	.	.	ENSG00000213759	ENST00000446444	T	0.61627	0.09	1.27	0.31	0.15825	.	0.471757	0.17890	U	0.158548	T	0.71151	0.3306	M	0.92604	3.325	0.09310	N	1	P	0.49358	0.923	P	0.55455	0.776	T	0.61739	-0.7001	10	0.56958	D	0.05	.	4.9548	0.14033	0.2522:0.0:0.7478:0.0	.	502	O75310	UDB11_HUMAN	E	502	ENSP00000387683:A502E	ENSP00000387683:A502E	A	-	2	0	UGT2B11	70100832	0.001000	0.12720	0.161000	0.22692	0.052000	0.14988	0.958000	0.29227	0.088000	0.17205	0.184000	0.17185	GCA		0.438	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		7	81	1	0	0.00198382	0.001984	0.00215447	7	81				
UGT2B11	10720	broad.mit.edu	37	4	70079941	70079941	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr4:70079941C>T	ENST00000446444.1	-	1	508	c.500G>A	c.(499-501)cGg>cAg	p.R167Q	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	167					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.R167Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GTACACAAACCGTATGTTAAG	0.418																																							uc003heh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(499-501)CGG>CAG		UDP glucuronosyltransferase 2 family,							132.0	128.0	129.0					4																	70079941		2203	4299	6502	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70079941C>T	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.500G>A	4.37:g.70079941C>T	ENSP00000387683:p.Arg167Gln					uc003hei.1_Intron	p.R167Q	NM_001073	NP_001064	O75310	UDB11_HUMAN			1	509	-			167					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.500G>A	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	10.67	1.415990	0.25552	.	.	ENSG00000213759	ENST00000446444	T	0.61742	0.08	1.96	1.96	0.26148	.	0.000000	0.64402	U	0.000007	T	0.33411	0.0862	N	0.08118	0	0.21553	N	0.999643	B	0.14012	0.009	B	0.06405	0.002	T	0.27226	-1.0080	10	0.87932	D	0	.	8.1359	0.31054	0.0:0.2529:0.7471:0.0	.	167	O75310	UDB11_HUMAN	Q	167	ENSP00000387683:R167Q	ENSP00000387683:R167Q	R	-	2	0	UGT2B11	70114530	1.000000	0.71417	0.013000	0.15412	0.002000	0.02628	6.479000	0.73600	0.168000	0.19655	-1.122000	0.02009	CGG		0.418	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		5	33	0	0	0	0.000602	0	5	33				
SHROOM3	57619	broad.mit.edu	37	4	77661433	77661433	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr4:77661433G>C	ENST00000296043.6	+	5	3060	c.2107G>C	c.(2107-2109)Gac>Cac	p.D703H		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	703					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)		p.D702H(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CAAGGCAGAAGACCCTGGGAG	0.652																																							uc011cbx.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2107-2109)GAC>CAC		shroom family member 3 protein							49.0	62.0	58.0					4																	77661433		2196	4293	6489	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77661433G>C	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2107G>C	4.37:g.77661433G>C	ENSP00000296043:p.Asp703His					SHROOM3_uc011cbz.1_Missense_Mutation_p.D527H|SHROOM3_uc003hkf.1_Missense_Mutation_p.D578H|SHROOM3_uc003hkg.2_Missense_Mutation_p.D481H	p.D703H	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	3060	+			703					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.2107G>C	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	g	13.21	2.170492	0.38315	.	.	ENSG00000138771	ENST00000296043	T	0.32515	1.45	5.65	3.91	0.45181	.	1.475890	0.03920	N	0.283412	T	0.41650	0.1168	L	0.60455	1.87	0.09310	N	1	P;P;P	0.49961	0.93;0.93;0.93	P;P;P	0.46975	0.533;0.533;0.533	T	0.31024	-0.9958	10	0.72032	D	0.01	-7.8114	10.0897	0.42439	0.1538:0.0:0.8462:0.0	.	527;703;481	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	H	703	ENSP00000296043:D703H	ENSP00000296043:D703H	D	+	1	0	SHROOM3	77880457	0.982000	0.34865	0.127000	0.21898	0.113000	0.19764	3.494000	0.53273	1.382000	0.46385	0.558000	0.71614	GAC		0.652	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		4	141	0	0	0	0.009096	0	4	141				
FRAS1	80144	broad.mit.edu	37	4	79366688	79366688	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr4:79366688G>C	ENST00000325942.6	+	42	6118	c.5678G>C	c.(5677-5679)gGc>gCc	p.G1893A	FRAS1_ENST00000264895.6_Missense_Mutation_p.G1893A	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1893					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.G1893A(3)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GATCGTTTTGGCCCTGAAACT	0.413																																							uc003hlb.2		NA																	3	Substitution - Missense(3)		lung(3)	large_intestine(5)	5						c.(5677-5679)GGC>GCC		Fraser syndrome 1							106.0	102.0	103.0					4																	79366688		1920	4136	6056	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79366688G>C	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.5678G>C	4.37:g.79366688G>C	ENSP00000326330:p.Gly1893Ala					FRAS1_uc003hkw.2_Missense_Mutation_p.G1893A|FRAS1_uc010ijj.1_Missense_Mutation_p.G313A	p.G1893A	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			42	6118	+			1892			CSPG 7.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.5678G>C	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.58|14.58	2.578894|2.578894	0.46006|0.46006	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000325942;ENST00000264895|ENST00000510944;ENST00000512123	T;T|.	0.47177|.	2.33;0.85|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.111526|.	0.64402|.	D|.	0.000011|.	T|T	0.74997|0.74997	0.3790|0.3790	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	P;P|.	0.45428|.	0.495;0.858|.	B;B|.	0.41723|.	0.126;0.365|.	T|T	0.71994|0.71994	-0.4424|-0.4424	10|5	0.16420|.	T|.	0.52|.	.|.	18.5745|18.5745	0.91150|0.91150	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1893;1893|.	E9PHH6;A2RRR8|.	.;.|.	A|C	1893|342;121	ENSP00000326330:G1893A;ENSP00000264895:G1893A|.	ENSP00000264895:G1893A|.	G|W	+|+	2|3	0|0	FRAS1|FRAS1	79585712|79585712	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.910000|0.910000	0.53928|0.53928	6.983000|6.983000	0.76180|0.76180	2.830000|2.830000	0.97506|0.97506	0.585000|0.585000	0.79938|0.79938	GGC|TGG		0.413	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			5	49	0	0	0	0.000602	0	5	49				
RNF150	57484	broad.mit.edu	37	4	141888915	141888915	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr4:141888915G>T	ENST00000515673.2	-	2	630	c.597C>A	c.(595-597)aaC>aaA	p.N199K	RNF150_ENST00000379512.2_Missense_Mutation_p.N58K|RNF150_ENST00000306799.3_Missense_Mutation_p.N199K|RNF150_ENST00000420921.2_Missense_Mutation_p.N58K|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000507500.1_Missense_Mutation_p.N199K			Q9ULK6	RN150_HUMAN	ring finger protein 150	199						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.N108K(1)|p.N199K(1)		breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					ATTTCTGCAAGTTCCGGGTTC	0.468																																							uc003iio.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(595-597)AAC>AAA		ring finger protein 150 precursor							273.0	244.0	253.0					4																	141888915		2203	4300	6503	SO:0001583	missense	57484					integral to membrane	zinc ion binding	g.chr4:141888915G>T	AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"""RING-type (C3HC4) zinc fingers"""	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.597C>A	4.37:g.141888915G>T	ENSP00000425840:p.Asn199Lys					RNF150_uc010iok.1_Missense_Mutation_p.N199K|RNF150_uc003iip.1_Missense_Mutation_p.N199K	p.N199K	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN			2	1251	-	all_hematologic(180;0.162)		199			Extracellular (Potential).		Q3T1D0|Q6ZNW6	Missense_Mutation	SNP	ENST00000515673.2	37	c.597C>A	CCDS34065.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629533	0.67015	.	.	ENSG00000170153	ENST00000379512;ENST00000420921;ENST00000306799;ENST00000515673;ENST00000507500;ENST00000506101	T;T;T;T;T;T	0.14640	2.49;2.49;2.5;3.48;3.5;2.56	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.09774	0.0240	N	0.08118	0	0.80722	D	1	P;P;B	0.46327	0.762;0.876;0.149	B;B;B	0.40901	0.343;0.343;0.053	T	0.28776	-1.0033	10	0.30078	T	0.28	.	20.2422	0.98381	0.0:0.0:1.0:0.0	.	199;199;199	Q9ULK6-2;Q9ULK6-3;Q9ULK6	.;.;RN150_HUMAN	K	58;58;199;199;199;30	ENSP00000368827:N58K;ENSP00000394581:N58K;ENSP00000304321:N199K;ENSP00000425840:N199K;ENSP00000425568:N199K;ENSP00000425947:N30K	ENSP00000304321:N199K	N	-	3	2	RNF150	142108365	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.788000	0.95919	0.650000	0.86243	AAC		0.468	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364739.2	XM_291090		15	89	1	0	2.5808e-16	0.006122	3.47547e-16	15	89				
GYPB	2994	broad.mit.edu	37	4	145039892	145039892	+	Intron	SNP	T	T	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr4:145039892T>C	ENST00000283126.7	-	1	93				RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512064.1_Intron|GYPA_ENST00000535709.1_Silent_p.Q56Q|GYPA_ENST00000512789.1_Silent_p.Q17Q|GYPA_ENST00000503627.1_Intron|GYPA_ENST00000360771.4_Silent_p.Q82Q|GYPA_ENST00000504786.1_Silent_p.Q50Q|GYPA_ENST00000324022.10_Silent_p.Q49Q			P06028	GLPB_HUMAN	glycophorin B (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.Q82Q(1)		breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					GATGGGCAAGTTGTACCCTTT	0.323																																							uc003ijo.3		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(244-246)CAA>CAG		glycophorin A precursor							108.0	107.0	107.0					4																	145039892		2203	4300	6503	SO:0001627	intron_variant	2993				interspecies interaction between organisms	membrane fraction	receptor activity	g.chr4:145039892T>C		CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"""CD molecules"", ""Blood group antigens"""	4703	protein-coding gene	gene with protein product		111740	"""glycophorin B (includes Ss blood group)"", ""glycophorin B (Ss blood group)"""	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000283126.7:c.37+21859A>G	4.37:g.145039892T>C						GYPA_uc003ijn.2_Silent_p.Q82Q|GYPA_uc011cia.1_RNA|GYPA_uc011cib.1_Silent_p.Q49Q|GYPA_uc003ijp.3_Silent_p.Q50Q|GYPA_uc010ioq.2_Intron|GYPA_uc010ior.2_Silent_p.Q17Q|GYPA_uc010ios.1_Intron	p.Q82Q	NM_002099	NP_002090	P02724	GLPA_HUMAN			4	362	-	all_hematologic(180;0.15)		82		Q -> K (in ENAV/MARS antigen).	Extracellular.		B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Silent	SNP	ENST00000283126.7	37	c.246A>G																																																																																					0.323	GYPB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002100		16	68	0	0	0	0.003163	0	16	68				
SH3D19	152503	broad.mit.edu	37	4	152095909	152095909	+	Missense_Mutation	SNP	T	T	C	rs373709661		TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr4:152095909T>C	ENST00000409252.2	-	6	1314	c.607A>G	c.(607-609)Atc>Gtc	p.I203V	SH3D19_ENST00000604030.1_5'Flank|SH3D19_ENST00000455740.1_Missense_Mutation_p.I203V|SH3D19_ENST00000514152.1_Missense_Mutation_p.I203V|SH3D19_ENST00000424281.1_Missense_Mutation_p.I203V|SH3D19_ENST00000304527.4_Missense_Mutation_p.I203V|SH3D19_ENST00000409598.4_Missense_Mutation_p.I203V|SH3D19_ENST00000427414.2_Missense_Mutation_p.I203V			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	203	Pro-rich.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.I200V(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				ATGAGATCGATGTCCACCAAG	0.527																																							uc010ipl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(607-609)ATC>GTC		SH3 domain containing 19 isoform a		T	VAL/ILE,VAL/ILE,VAL/ILE	0,4406		0,0,2203	159.0	174.0	169.0		607,607,607	2.8	1.0	4		169	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SH3D19	NM_001009555.3,NM_001128923.1,NM_001128924.1	29,29,29	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign,benign	203/791,203/768,203/732	152095909	1,13005	2203	4300	6503	SO:0001583	missense	152503				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	g.chr4:152095909T>C	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.607A>G	4.37:g.152095909T>C	ENSP00000386848:p.Ile203Val					SH3D19_uc003imc.2_Missense_Mutation_p.I203V|SH3D19_uc003ime.2_Missense_Mutation_p.I203V|SH3D19_uc010ipm.2_Missense_Mutation_p.I203V	p.I203V	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN			7	1697	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	203			Pro-rich.		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	ENST00000409252.2	37	c.607A>G	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	T	3.668	-0.068219	0.07228	0.0	1.16E-4	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.70045	-0.42;0.24;-0.42;-0.45;-0.45;0.24;-0.42	5.53	2.77	0.32553	.	1.717850	0.02716	N	0.113465	T	0.58779	0.2146	L	0.57536	1.79	0.09310	N	0.999993	B;P;P	0.39404	0.294;0.672;0.672	B;B;B	0.34038	0.073;0.107;0.174	T	0.45366	-0.9266	10	0.23302	T	0.38	-8.5332	3.9927	0.09545	0.0:0.2587:0.1858:0.5555	.	203;203;203	Q5HYK7;Q5HYK7-2;Q5HYK7-3	SH319_HUMAN;.;.	V	203	ENSP00000387030:I203V;ENSP00000302913:I203V;ENSP00000416708:I203V;ENSP00000404542:I203V;ENSP00000415694:I203V;ENSP00000386848:I203V;ENSP00000423449:I203V	ENSP00000302913:I203V	I	-	1	0	SH3D19	152315359	0.730000	0.28100	0.990000	0.47175	0.058000	0.15608	0.473000	0.22132	0.929000	0.37192	0.448000	0.29417	ATC		0.527	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555		6	351	0	0	0	0.001168	0	6	351				
TKTL2	84076	broad.mit.edu	37	4	164394375	164394375	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr4:164394375G>A	ENST00000280605.3	-	1	672	c.512C>T	c.(511-513)gCc>gTc	p.A171V		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	171						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.A171V(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GTAGTGGGAGGCAAAAGCAAA	0.552																																							uc003iqp.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(511-513)GCC>GTC		transketolase-like 2							81.0	82.0	82.0					4																	164394375		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164394375G>A	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.512C>T	4.37:g.164394375G>A	ENSP00000280605:p.Ala171Val						p.A171V	NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN			1	673	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	171					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.512C>T	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.683705	0.47991	.	.	ENSG00000151005	ENST00000280605	T	0.37915	1.17	4.13	3.26	0.37387	Transketolase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.69780	0.3149	H	0.97023	3.925	0.58432	D	0.999999	D	0.89917	1.0	D	0.74674	0.984	T	0.79631	-0.1723	10	0.87932	D	0	-15.6358	12.0446	0.53473	0.0:0.1759:0.824:0.0	.	171	Q9H0I9	TKTL2_HUMAN	V	171	ENSP00000280605:A171V	ENSP00000280605:A171V	A	-	2	0	TKTL2	164613825	1.000000	0.71417	0.660000	0.29694	0.256000	0.26092	3.512000	0.53407	1.271000	0.44313	0.655000	0.94253	GCC		0.552	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		20	61	0	0	0	0.010504	0	20	61				
TRIM75P	391714	broad.mit.edu	37	4	165980473	165980473	+	IGR	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr4:165980473C>A								TRIM60 (17577 upstream) : RP11-219C20.3 (11286 downstream)																							TCTGTCGTCACCAGTGTCAAG	0.522																																							uc011cjl.1		NA																	0					NA						c.(172-174)CAC>CAA		tripartite motif-containing 75							42.0	42.0	42.0					4																	165980473		2050	4210	6260	SO:0001628	intergenic_variant	0							g.chr4:165980473C>A																													4.37:g.165980473C>A							p.H58Q	NM_001105575	NP_001099045					1	174	+									Missense_Mutation	SNP		37	c.174C>A																																																																																				0	0.522									3	22	1	0	0.004672	0.004672	0.00501991	3	22				
TLL1	7092	broad.mit.edu	37	4	167020587	167020587	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr4:167020587G>C	ENST00000061240.2	+	20	3462	c.2815G>C	c.(2815-2817)Gag>Cag	p.E939Q	TLL1_ENST00000507499.1_Missense_Mutation_p.E962Q	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	939	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E939Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATTTGAAGTGGAGGAAGAAGC	0.463																																							uc003irh.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(2815-2817)GAG>CAG		tolloid-like 1 precursor							206.0	202.0	203.0					4																	167020587		2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:167020587G>C	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.2815G>C	4.37:g.167020587G>C	ENSP00000061240:p.Glu939Gln					TLL1_uc011cjn.1_Missense_Mutation_p.E962Q|TLL1_uc011cjo.1_Missense_Mutation_p.E763Q	p.E939Q	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	20	3462	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	939			CUB 5.		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.2815G>C	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673065	0.67928	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.45668	0.89;0.89	5.64	5.64	0.86602	CUB (5);	0.000000	0.85682	U	0.000000	T	0.69700	0.3140	M	0.83852	2.665	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	T	0.72330	-0.4326	10	0.59425	D	0.04	.	19.6967	0.96029	0.0:0.0:1.0:0.0	.	962;939	E9PD25;O43897	.;TLL1_HUMAN	Q	939;962	ENSP00000061240:E939Q;ENSP00000426082:E962Q	ENSP00000061240:E939Q	E	+	1	0	TLL1	167240037	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	9.813000	0.99286	2.658000	0.90341	0.563000	0.77884	GAG		0.463	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			24	129	0	0	0	0.00333	0	24	129				
FAT1	2195	broad.mit.edu	37	4	187539532	187539532	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr4:187539532G>C	ENST00000441802.2	-	10	8417	c.8208C>G	c.(8206-8208)agC>agG	p.S2736R		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2736	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S2736R(1)|p.S2739R(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTTTGACCAGGCTGTAAAGAA	0.448										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(8206-8208)AGC>AGG		FAT tumor suppressor 1 precursor							120.0	117.0	118.0					4																	187539532		1909	4121	6030	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187539532G>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8208C>G	4.37:g.187539532G>C	ENSP00000406229:p.Ser2736Arg	HNSCC(5;0.00058)					p.S2736R	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	8396	-			2736			Extracellular (Potential).|Cadherin 25.			Missense_Mutation	SNP	ENST00000441802.2	37	c.8208C>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705469	0.48412	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.54071	0.59	5.0	4.16	0.48862	Cadherin (4);Cadherin-like (1);	0.173944	0.64402	D	0.000008	T	0.63224	0.2493	M	0.83603	2.65	0.52501	D	0.999959	P	0.45011	0.848	P	0.54401	0.751	T	0.62756	-0.6787	10	0.31617	T	0.26	.	5.7556	0.18170	0.3233:0.0:0.6767:0.0	.	2736	Q14517	FAT1_HUMAN	R	2736;2738	ENSP00000406229:S2736R	ENSP00000260147:S2738R	S	-	3	2	FAT1	187776526	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.616000	0.36933	1.472000	0.48140	0.655000	0.94253	AGC		0.448	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		10	173	0	0	0	0.013537	0	10	173				
TRIML1	339976	broad.mit.edu	37	4	189063534	189063534	+	Silent	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr4:189063534G>A	ENST00000332517.3	+	3	773	c.633G>A	c.(631-633)ctG>ctA	p.L211L	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	211					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.L211L(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TGAGGAAGCTGAGGAACAATG	0.448																																					Melanoma(31;213 1036 16579 23968 32372)	Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|breast(1)|skin(1)	4						c.(631-633)CTG>CTA		tripartite motif family-like 1							122.0	123.0	123.0					4																	189063534		2203	4300	6503	SO:0001819	synonymous_variant	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189063534G>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.633G>A	4.37:g.189063534G>A						TRIML1_uc003izn.1_5'Flank	p.L211L	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	3	748	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	211			Potential.		Q96BE5	Silent	SNP	ENST00000332517.3	37	c.633G>A	CCDS3851.1																																																																																				0.448	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		7	59	0	0	0	0.001984	0	7	59				
ADAMTS16	170690	broad.mit.edu	37	5	5237160	5237160	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr5:5237160G>A	ENST00000274181.7	+	14	2240	c.2102G>A	c.(2101-2103)gGg>gAg	p.G701E	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	701	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G701E(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GTCAAAGATGGGACTCCATGC	0.378																																							uc003jdl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(2101-2103)GGG>GAG		ADAM metallopeptidase with thrombospondin type 1							161.0	150.0	153.0					5																	5237160		1892	4108	6000	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5237160G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2102G>A	5.37:g.5237160G>A	ENSP00000274181:p.Gly701Glu					ADAMTS16_uc003jdk.1_Missense_Mutation_p.G701E|ADAMTS16_uc010itk.1_Intron	p.G701E	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			14	2240	+			701			Cys-rich.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2102G>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	30	5.051472	0.93793	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	D	0.90261	-2.64	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.97623	0.9221	H	0.98936	4.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.984;0.999	D	0.98942	1.0791	10	0.87932	D	0	.	18.6706	0.91510	0.0:0.0:1.0:0.0	.	701;701	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	E	701	ENSP00000274181:G701E	ENSP00000274181:G701E	G	+	2	0	ADAMTS16	5290160	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.985000	0.93487	2.708000	0.92522	0.655000	0.94253	GGG		0.378	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		8	165	0	0	0	0.004482	0	8	165				
CDH18	1016	broad.mit.edu	37	5	19473694	19473694	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr5:19473694C>T	ENST00000507958.1	-	15	3004	c.2014G>A	c.(2014-2016)Gac>Aac	p.D672N	CDH18_ENST00000274170.4_Missense_Mutation_p.D672N|CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.D672N|CDH18_ENST00000510297.1_5'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2	672					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D672N(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GCTGTGATGTCAAAGGCCTCT	0.507																																							uc003jgc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(2014-2016)GAC>AAC		cadherin 18, type 2 preproprotein							152.0	145.0	147.0					5																	19473694		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19473694C>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.2014G>A	5.37:g.19473694C>T	ENSP00000425093:p.Asp672Asn					CDH18_uc003jgd.2_Missense_Mutation_p.D672N|CDH18_uc011cnm.1_3'UTR	p.D672N	NM_004934	NP_004925	Q13634	CAD18_HUMAN			12	2391	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		672			Cytoplasmic (Potential).		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.2014G>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	35	5.485424	0.96323	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	D;D;D	0.82526	-1.62;-1.62;-1.62	6.16	6.16	0.99307	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.91355	0.7273	M	0.78456	2.415	0.80722	D	1	D	0.67145	0.996	D	0.72075	0.976	D	0.90149	0.4219	9	.	.	.	.	19.4236	0.94732	0.0:1.0:0.0:0.0	.	672	Q13634	CAD18_HUMAN	N	672	ENSP00000371710:D672N;ENSP00000425093:D672N;ENSP00000274170:D672N	.	D	-	1	0	CDH18	19509451	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.813000	0.86123	2.937000	0.99478	0.650000	0.86243	GAC		0.507	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		9	102	0	0	0	0.004482	0	9	102				
OSMR	9180	broad.mit.edu	37	5	38885462	38885462	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr5:38885462G>A	ENST00000274276.3	+	6	1117	c.715G>A	c.(715-717)Gag>Aag	p.E239K	OSMR_ENST00000502536.1_Missense_Mutation_p.E239K	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	239					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)	p.E239K(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AGTACTTGAGGAGCCCAAGGA	0.443																																							uc003jln.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(715-717)GAG>AAG		oncostatin M receptor precursor							84.0	81.0	82.0					5																	38885462		2203	4300	6503	SO:0001583	missense	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38885462G>A	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.715G>A	5.37:g.38885462G>A	ENSP00000274276:p.Glu239Lys					OSMR_uc003jlm.1_Missense_Mutation_p.E239K	p.E239K	NM_003999	NP_003990	Q99650	OSMR_HUMAN			6	1082	+	all_lung(31;0.000365)		239			Extracellular (Potential).		Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	c.715G>A	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397623	0.83120	.	.	ENSG00000145623	ENST00000502536;ENST00000274276	T;T	0.65178	-0.14;-0.14	5.0	5.0	0.66597	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.597827	0.18697	N	0.133689	T	0.71978	0.3404	M	0.62723	1.935	0.39452	D	0.967412	D;D	0.89917	1.0;1.0	D;D	0.79784	0.984;0.993	T	0.67891	-0.5553	10	0.06236	T	0.91	.	13.8321	0.63386	0.0:0.0:1.0:0.0	.	239;239	Q99650;Q99650-2	OSMR_HUMAN;.	K	239	ENSP00000422023:E239K;ENSP00000274276:E239K	ENSP00000274276:E239K	E	+	1	0	OSMR	38921219	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.741000	0.62095	2.324000	0.78689	0.655000	0.94253	GAG		0.443	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		7	69	0	0	0	0.001984	0	7	69				
C7	730	broad.mit.edu	37	5	40979944	40979944	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr5:40979944C>A	ENST00000313164.9	+	17	2642	c.2283C>A	c.(2281-2283)gaC>gaA	p.D761E	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	761	Factor I module (FIM) 1.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.D761E(1)					Ovarian(839;0.0112)				CTGGTAGGGACAGCTGTACTC	0.473																																							uc003jmh.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2281-2283)GAC>GAA		complement component 7 precursor							69.0	69.0	69.0					5																	40979944		1975	4160	6135	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40979944C>A	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2283C>A	5.37:g.40979944C>A	ENSP00000322061:p.Asp761Glu					C7_uc011cpn.1_RNA	p.D761E	NM_000587	NP_000578	P10643	CO7_HUMAN			17	2397	+		Ovarian(839;0.0112)	761			Complement control factor I module 1.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.2283C>A	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	C	7.509	0.654357	0.14580	.	.	ENSG00000112936	ENST00000313164	T	0.61742	0.08	5.8	2.99	0.34606	Factor I / membrane attack complex (1);	0.573673	0.19013	N	0.125005	T	0.26846	0.0657	N	0.04880	-0.145	0.25035	N	0.991245	B	0.02656	0.0	B	0.01281	0.0	T	0.28808	-1.0032	10	0.02654	T	1	-6.7999	6.107	0.20079	0.2909:0.4158:0.2934:0.0	.	761	P10643	CO7_HUMAN	E	761	ENSP00000322061:D761E	ENSP00000322061:D761E	D	+	3	2	C7	41015701	0.870000	0.30015	0.983000	0.44433	0.877000	0.50540	0.123000	0.15708	0.338000	0.23692	0.563000	0.77884	GAC		0.473	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			3	45	1	0	0.004672	0.004672	0.00501991	3	45				
PARP8	79668	broad.mit.edu	37	5	50090157	50090157	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr5:50090157C>T	ENST00000281631.5	+	11	1012	c.854C>T	c.(853-855)aCt>aTt	p.T285I	PARP8_ENST00000505554.1_Missense_Mutation_p.T264I|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.T285I|PARP8_ENST00000503750.2_Missense_Mutation_p.T285I|PARP8_ENST00000514342.2_Missense_Mutation_p.T38I|PARP8_ENST00000505697.2_Missense_Mutation_p.T285I	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	285						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.T285I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TTATTTTCTACTTTGCGCAGG	0.403																																							uc003jon.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|large_intestine(1)|ovary(1)	5						c.(853-855)ACT>ATT		poly (ADP-ribose) polymerase family, member 8							154.0	157.0	156.0					5																	50090157		2203	4300	6503	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50090157C>T	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.854C>T	5.37:g.50090157C>T	ENSP00000281631:p.Thr285Ile					PARP8_uc011cpz.1_Missense_Mutation_p.T177I|PARP8_uc003joo.2_Missense_Mutation_p.T285I|PARP8_uc003jop.2_Missense_Mutation_p.T285I	p.T285I	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN			12	1036	+		Lung NSC(810;0.0305)|Breast(144;0.222)	285					Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.854C>T	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228148	0.58777	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.62588	0.2440	N	0.22421	0.69	0.58432	D	0.999997	D;D;B	0.71674	0.998;0.982;0.15	P;P;B	0.61874	0.895;0.682;0.027	T	0.59484	-0.7446	8	.	.	.	-12.824	19.5707	0.95413	0.0:1.0:0.0:0.0	.	177;285;285	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	I	285;285;38;285;285;264;38;38	.	.	T	+	2	0	PARP8	50125914	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.425000	0.73370	2.690000	0.91761	0.655000	0.94253	ACT		0.403	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		12	93	0	0	0	0.010729	0	12	93				
CMYA5	202333	broad.mit.edu	37	5	79030763	79030763	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr5:79030763C>A	ENST00000446378.2	+	2	6206	c.6175C>A	c.(6175-6177)Cag>Aag	p.Q2059K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2059					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.Q2059K(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATCAGTGGAACAGGTGAAGTC	0.463																																							uc003kgc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|pancreas(2)|lung(1)	9						c.(6175-6177)CAG>AAG		cardiomyopathy associated 5							80.0	78.0	79.0					5																	79030763		1848	4103	5951	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79030763C>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6175C>A	5.37:g.79030763C>A	ENSP00000394770:p.Gln2059Lys						p.Q2059K	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	6247	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2059					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.6175C>A	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241396	0.22711	.	.	ENSG00000164309	ENST00000446378	T	0.40225	1.04	5.83	0.798	0.18660	.	0.711907	0.11566	N	0.551258	T	0.29914	0.0748	L	0.29908	0.895	0.09310	N	1	B	0.30763	0.294	B	0.24974	0.057	T	0.14008	-1.0488	10	0.72032	D	0.01	.	11.02	0.47711	0.0:0.3647:0.559:0.0763	.	2059	Q8N3K9	CMYA5_HUMAN	K	2059	ENSP00000394770:Q2059K	ENSP00000394770:Q2059K	Q	+	1	0	CMYA5	79066519	0.000000	0.05858	0.000000	0.03702	0.374000	0.29953	-0.277000	0.08502	-0.144000	0.11314	0.555000	0.69702	CAG		0.463	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		20	98	1	0	0.000132079	0.008871	0.000153333	20	98				
SLCO6A1	133482	broad.mit.edu	37	5	101726745	101726745	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr5:101726745C>A	ENST00000506729.1	-	11	1990	c.1819G>T	c.(1819-1821)Gta>Tta	p.V607L	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.V607L|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.V354L|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.V354L|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.V545L			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	607						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.V607L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTGTCAGGTACAACCCTGAAA	0.338																																							uc003knn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|central_nervous_system(1)	7						c.(1819-1821)GTA>TTA		solute carrier organic anion transporter family,							115.0	111.0	113.0					5																	101726745		2203	4300	6503	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101726745C>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1819G>T	5.37:g.101726745C>A	ENSP00000421339:p.Val607Leu					SLCO6A1_uc003kno.2_Missense_Mutation_p.V354L|SLCO6A1_uc003knp.2_Missense_Mutation_p.V607L|SLCO6A1_uc003knq.2_Missense_Mutation_p.V545L	p.V607L	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	11	1991	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	607			Cytoplasmic (Potential).		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.1819G>T	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	8.486	0.861012	0.17178	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48	4.9	0.929	0.19449	Major facilitator superfamily domain, general substrate transporter (1);	0.463335	0.19243	N	0.119108	T	0.61311	0.2337	M	0.74546	2.27	0.09310	N	1	P;P;P	0.46064	0.859;0.872;0.807	B;P;P	0.58620	0.435;0.842;0.475	T	0.52697	-0.8541	10	0.59425	D	0.04	.	3.6847	0.08324	0.3724:0.4386:0.0:0.189	.	545;354;607	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	L	607;607;545;354;354	ENSP00000421339:V607L;ENSP00000369135:V607L;ENSP00000373671:V545L;ENSP00000421990:V354L;ENSP00000369138:V354L	ENSP00000369135:V607L	V	-	1	0	SLCO6A1	101754644	0.009000	0.17119	0.000000	0.03702	0.008000	0.06430	0.245000	0.18142	-0.029000	0.13827	-0.274000	0.10170	GTA		0.338	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		16	62	1	0	2.35188e-11	0.006122	3.1051e-11	16	62				
PPIP5K2	23262	broad.mit.edu	37	5	102494220	102494220	+	Silent	SNP	C	C	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr5:102494220C>G	ENST00000358359.3	+	16	2189	c.1680C>G	c.(1678-1680)ctC>ctG	p.L560L	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Silent_p.L560L|PPIP5K2_ENST00000321521.9_Silent_p.L560L	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	560					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)	p.L560L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GACATGACCTCAAAATATATG	0.333																																							uc003kod.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1678-1680)CTC>CTG		Histidine acid phosphatase domain containing 1							135.0	134.0	134.0					5																	102494220		2203	4300	6503	SO:0001819	synonymous_variant	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102494220C>G	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.1680C>G	5.37:g.102494220C>G						PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Silent_p.L560L	p.L560L	NM_015216	NP_056031	O43314	VIP2_HUMAN			16	2199	+			560					A1NI53|A6NGS8|Q8TB50	Silent	SNP	ENST00000358359.3	37	c.1680C>G																																																																																					0.333	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		11	80	0	0	0	0.013537	0	11	80				
FBN2	2201	broad.mit.edu	37	5	127728883	127728883	+	Silent	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr5:127728883G>A	ENST00000508053.1	-	16	2384	c.1410C>T	c.(1408-1410)ggC>ggT	p.G470G	FBN2_ENST00000262464.4_Silent_p.G470G|FBN2_ENST00000508989.1_Silent_p.G437G			P35556	FBN2_HUMAN	fibrillin 2	470					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.G470G(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTCCCCCAACGCCAGGAGAAA	0.577																																							uc003kuu.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(1408-1410)GGC>GGT		fibrillin 2 precursor							79.0	86.0	84.0					5																	127728883		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127728883G>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1410C>T	5.37:g.127728883G>A						FBN2_uc003kuv.2_Silent_p.G437G	p.G470G	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	10	1849	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	470					B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.1410C>T	CCDS34222.1																																																																																				0.577	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		10	112	0	0	0	0.008291	0	10	112				
ADAMTS19	171019	broad.mit.edu	37	5	128983511	128983511	+	Silent	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr5:128983511C>T	ENST00000274487.4	+	12	2053	c.1908C>T	c.(1906-1908)gcC>gcT	p.A636A	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	636	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A636A(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AACATCTGGCCGGAGAGTGGA	0.517																																							uc003kvb.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|breast(2)|lung(1)|skin(1)	9						c.(1906-1908)GCC>GCT		ADAM metallopeptidase with thrombospondin type 1							142.0	142.0	142.0					5																	128983511		2203	4300	6503	SO:0001819	synonymous_variant	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128983511C>T	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1908C>T	5.37:g.128983511C>T						ADAMTS19_uc010jdh.1_RNA	p.A636A	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	12	1908	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	636			TSP type-1 1.			Silent	SNP	ENST00000274487.4	37	c.1908C>T	CCDS4146.1																																																																																				0.517	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		8	118	0	0	0	0.004482	0	8	118				
PCDHA12	56137	broad.mit.edu	37	5	140257174	140257174	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr5:140257174C>T	ENST00000398631.2	+	1	2117	c.2117C>T	c.(2116-2118)gCg>gTg	p.A706V	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	706					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A706V(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCATCTGTGCGGTGTCCAGC	0.672																																					Pancreas(113;759 1672 13322 24104 50104)	Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2116-2118)GCG>GTG		protocadherin alpha 12 isoform 1 precursor							41.0	41.0	41.0					5																	140257174		2203	4299	6502	SO:0001583	missense	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140257174C>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.2117C>T	5.37:g.140257174C>T	ENSP00000381628:p.Ala706Val					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.A706V	p.A706V	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2244	+			706			Helical; (Potential).		O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.2117C>T	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282582	0.40394	.	.	ENSG00000251664	ENST00000398631	T	0.17370	2.28	4.94	4.08	0.47627	.	.	.	.	.	T	0.29355	0.0731	H	0.94183	3.505	0.22305	N	0.999219	P;B	0.38677	0.642;0.239	B;B	0.33846	0.171;0.028	T	0.31447	-0.9943	9	0.33940	T	0.23	.	10.5463	0.45062	0.0:0.8391:0.0:0.1609	.	706;706	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	V	706	ENSP00000381628:A706V	ENSP00000381628:A706V	A	+	2	0	PCDHA12	140237358	0.002000	0.14202	0.965000	0.40720	0.392000	0.30506	1.528000	0.35985	1.080000	0.41073	0.655000	0.94253	GCG		0.672	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		7	46	0	0	0	0.004482	0	7	46				
PCDHGA2	56113	broad.mit.edu	37	5	140720634	140720634	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr5:140720634C>T	ENST00000394576.2	+	1	2096	c.2096C>T	c.(2095-2097)gCg>gTg	p.A699V	PCDHGA3_ENST00000253812.6_5'Flank|PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	699					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A699V(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGTGGCCGCGGTCTCCTGC	0.662																																							uc003ljk.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(2095-2097)GCG>GTG		protocadherin gamma subfamily A, 2 isoform 1							90.0	97.0	95.0					5																	140720634		2203	4298	6501	SO:0001583	missense	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140720634C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2096C>T	5.37:g.140720634C>T	ENSP00000378077:p.Ala699Val					PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Missense_Mutation_p.A699V|PCDHGA3_uc011dap.1_5'Flank	p.A699V	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2281	+			699			Helical; (Potential).		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.2096C>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	0.015	-1.550595	0.00918	.	.	ENSG00000081853	ENST00000394576	T	0.12039	2.72	5.05	0.493	0.16878	.	1.160920	0.06721	N	0.774793	T	0.09069	0.0224	L	0.31065	0.9	0.09310	N	1	B;B	0.17667	0.023;0.015	B;B	0.17722	0.019;0.012	T	0.37820	-0.9689	10	0.02654	T	1	.	8.9632	0.35860	0.0:0.508:0.0:0.492	.	699;699	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	V	699	ENSP00000378077:A699V	ENSP00000378077:A699V	A	+	2	0	PCDHGA2	140700818	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.600000	0.02083	0.104000	0.17725	0.485000	0.47835	GCG		0.662	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		18	138	0	0	0	0.010504	0	18	138				
PCDHGB6	56100	broad.mit.edu	37	5	140788222	140788222	+	Silent	SNP	A	A	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr5:140788222A>T	ENST00000520790.1	+	1	453	c.453A>T	c.(451-453)cgA>cgT	p.R151R	PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	151	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R151R(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTACACGACTATCGCTTG	0.348																																							uc003lkj.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(451-453)CGA>CGT		protocadherin gamma subfamily B, 6 isoform 1							60.0	59.0	59.0					5																	140788222		1837	4098	5935	SO:0001819	synonymous_variant	56100				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140788222A>T	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.453A>T	5.37:g.140788222A>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Silent_p.R151R	p.R151R	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	453	+			151			Extracellular (Potential).|Cadherin 2.		Q9Y5C5	Silent	SNP	ENST00000520790.1	37	c.453A>T	CCDS54929.1																																																																																				0.348	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		11	52	0	0	0	0.013537	0	11	52				
TENM2	57451	broad.mit.edu	37	5	167674048	167674048	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr5:167674048G>T	ENST00000518659.1	+	27	6143	c.6104G>T	c.(6103-6105)aGt>aTt	p.S2035I	TENM2_ENST00000545108.1_Missense_Mutation_p.S2034I|TENM2_ENST00000520394.1_Missense_Mutation_p.S1796I|TENM2_ENST00000519204.1_Missense_Mutation_p.S1914I|TENM2_ENST00000403607.2_Missense_Mutation_p.S1859I	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2035					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.S2035I(1)|p.S1914I(1)|p.S1868I(1)									GTCTACGACAGTACCGCCGTC	0.532																																							uc010jjd.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(6)|central_nervous_system(4)	10						c.(6076-6078)AGT>ATT		odz, odd Oz/ten-m homolog 2							80.0	80.0	80.0					5																	167674048		1925	4138	6063	SO:0001583	missense	57451							g.chr5:167674048G>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.6104G>T	5.37:g.167674048G>T	ENSP00000429430:p.Ser2035Ile					ODZ2_uc003lzr.3_Missense_Mutation_p.S1796I|ODZ2_uc003lzt.3_Missense_Mutation_p.S1399I|ODZ2_uc010jje.2_Missense_Mutation_p.S1290I	p.S2026I	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	27	6077	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.6077G>T		.	.	.	.	.	.	.	.	.	.	G	17.11	3.305998	0.60305	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90261	-2.15;-2.14;-2.27;-2.62;-2.64	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.94915	0.8356	M	0.76574	2.34	0.51767	D	0.999935	D;D;P	0.65815	0.995;0.975;0.919	D;P;P	0.69142	0.962;0.873;0.663	D	0.93807	0.7106	10	0.37606	T	0.19	.	19.2461	0.93902	0.0:0.0:1.0:0.0	.	2034;2035;1796	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	I	2035;2034;1914;1796;1859	ENSP00000429430:S2035I;ENSP00000438635:S2034I;ENSP00000428964:S1914I;ENSP00000427874:S1796I;ENSP00000384905:S1859I	ENSP00000384905:S1859I	S	+	2	0	ODZ2	167606626	1.000000	0.71417	0.994000	0.49952	0.879000	0.50718	8.017000	0.88712	2.560000	0.86352	0.561000	0.74099	AGT		0.532	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		12	110	1	0	4.3838e-07	0.001855	5.46622e-07	12	110				
SLC34A1	6569	broad.mit.edu	37	5	176825194	176825194	+	Silent	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr5:176825194G>A	ENST00000324417.5	+	13	1918	c.1827G>A	c.(1825-1827)ccG>ccA	p.P609P	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	609					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.P609P(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTCACCCCCGCTGCCCCCCA	0.687																																							uc003mgk.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1825-1827)CCG>CCA		solute carrier family 34 (sodium phosphate),							25.0	28.0	27.0					5																	176825194		2203	4299	6502	SO:0001819	synonymous_variant	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176825194G>A	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.1827G>A	5.37:g.176825194G>A							p.P609P	NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1928	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	609			Cytoplasmic (Potential).		B4DPE3	Silent	SNP	ENST00000324417.5	37	c.1827G>A	CCDS4418.1																																																																																				0.687	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		4	41	0	0	0	0.000602	0	4	41				
FOXC1	2296	broad.mit.edu	37	6	1611205	1611205	+	Silent	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr6:1611205G>A	ENST00000380874.2	+	1	525	c.525G>A	c.(523-525)aaG>aaA	p.K175K		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	175					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.K175K(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		GGCGCTTCAAGAAGAAGGACG	0.692																																					Pancreas(133;719 1821 3197 26645 35015)	Pancreas(133;719 1821 3197 26645 35015)	uc003mtp.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(523-525)AAG>AAA		forkhead box C1							22.0	24.0	23.0					6																	1611205		2202	4299	6501	SO:0001819	synonymous_variant	2296				anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr6:1611205G>A	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"""Forkhead boxes"""	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.525G>A	6.37:g.1611205G>A							p.K175K	NM_001453	NP_001444	Q12948	FOXC1_HUMAN		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)	1	525	+	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	175					Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Silent	SNP	ENST00000380874.2	37	c.525G>A	CCDS4473.1																																																																																				0.692	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1			6	25	0	0	0	0.001168	0	6	25				
SYCP2L	221711	broad.mit.edu	37	6	10959066	10959066	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr6:10959066C>A	ENST00000283141.6	+	26	2509	c.2213C>A	c.(2212-2214)cCg>cAg	p.P738Q		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	738						nucleus (GO:0005634)		p.P738Q(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AAGAAAGCACCGGATTGCCTA	0.343																																							uc003mzo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2212-2214)CCG>CAG		synaptonemal complex protein 2-like							96.0	90.0	92.0					6																	10959066		1849	4092	5941	SO:0001583	missense	221711					nucleus		g.chr6:10959066C>A	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.2213C>A	6.37:g.10959066C>A	ENSP00000283141:p.Pro738Gln					SYCP2L_uc010jow.2_Missense_Mutation_p.P358Q	p.P738Q	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		26	2509	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	738					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	c.2213C>A	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	C	4.167	0.029437	0.08054	.	.	ENSG00000153157	ENST00000283141	T	0.15834	2.39	5.01	2.19	0.27852	.	0.145272	0.45126	N	0.000398	T	0.04452	0.0122	L	0.46157	1.445	0.19300	N	0.999978	P	0.37141	0.584	B	0.32928	0.155	T	0.29150	-1.0021	10	0.54805	T	0.06	-4.5363	5.0069	0.14293	0.1671:0.6652:0.0:0.1677	.	738	Q5T4T6	SYC2L_HUMAN	Q	738	ENSP00000283141:P738Q	ENSP00000283141:P738Q	P	+	2	0	SYCP2L	11067052	0.630000	0.27155	0.012000	0.15200	0.010000	0.07245	1.171000	0.31896	0.210000	0.20664	-1.008000	0.02478	CCG		0.343	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		12	59	1	0	2.31682e-05	0.003163	2.76922e-05	12	59				
GTPBP2	54676	broad.mit.edu	37	6	43592282	43592282	+	Silent	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr6:43592282G>A	ENST00000307126.5	-	7	1064	c.1065C>T	c.(1063-1065)gcC>gcT	p.A355A	GTPBP2_ENST00000307114.7_Silent_p.A267A|GTPBP2_ENST00000476510.1_5'UTR	NM_019096.3	NP_061969.3			GTP binding protein 2									p.A355A(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CAGCAGTGACGGCATCATCCT	0.602																																					GBM(116;405 1620 28302 32150 44768)	GBM(116;405 1620 28302 32150 44768)	uc003ovs.2		NA																	2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	liver(1)|skin(1)	2						c.(1063-1065)GCC>GCT		GTP binding protein 2							63.0	51.0	55.0					6																	43592282		2203	4300	6503	SO:0001819	synonymous_variant	54676						GTP binding|GTPase activity	g.chr6:43592282G>A	AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.1065C>T	6.37:g.43592282G>A						GTPBP2_uc010jyv.2_Silent_p.A267A|GTPBP2_uc003ovt.1_Silent_p.A355A	p.A355A	NM_019096	NP_061969	Q9BX10	GTPB2_HUMAN	all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)		7	1102	-	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		355						Silent	SNP	ENST00000307126.5	37	c.1065C>T	CCDS4903.1																																																																																				0.602	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040679.1			11	44	0	0	0	0.013537	0	11	44				
PKHD1	5314	broad.mit.edu	37	6	51908488	51908488	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr6:51908488C>A	ENST00000371117.3	-	26	3031	c.2756G>T	c.(2755-2757)gGt>gTt	p.G919V	PKHD1_ENST00000340994.4_Missense_Mutation_p.G919V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	919					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.G919V(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGAGCAGGAACCTGGGCAATG	0.443																																							uc003pah.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(2755-2757)GGT>GTT		fibrocystin isoform 1							152.0	128.0	136.0					6																	51908488		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51908488C>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.2756G>T	6.37:g.51908488C>A	ENSP00000360158:p.Gly919Val					PKHD1_uc003pai.2_Missense_Mutation_p.G919V	p.G919V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			26	3032	-	Lung NSC(77;0.0605)		919			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.2756G>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.517169	0.64634	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.91792	-2.72;-2.91	6.14	6.14	0.99180	.	0.064498	0.64402	D	0.000005	D	0.96473	0.8849	M	0.85299	2.745	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.96161	0.9115	10	0.87932	D	0	.	19.4235	0.94732	0.0:1.0:0.0:0.0	.	919;919	P08F94-2;P08F94	.;PKHD1_HUMAN	V	919	ENSP00000360158:G919V;ENSP00000341097:G919V	ENSP00000341097:G919V	G	-	2	0	PKHD1	52016447	1.000000	0.71417	0.874000	0.34290	0.332000	0.28634	3.283000	0.51701	2.937000	0.99478	0.650000	0.86243	GGT		0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		8	33	1	0	0.000274275	0.004482	0.000307798	8	33				
MDN1	23195	broad.mit.edu	37	6	90365610	90365610	+	Silent	SNP	C	C	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr6:90365610C>G	ENST00000369393.3	-	92	15478	c.15363G>C	c.(15361-15363)ctG>ctC	p.L5121L	MDN1_ENST00000428876.1_Silent_p.L5121L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5121					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.L5121L(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCACAGTCCTCAGCCTCTTGT	0.527																																							uc003pnn.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(8)|skin(2)	10						c.(15361-15363)CTG>CTC		MDN1, midasin homolog							115.0	84.0	95.0					6																	90365610		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90365610C>G	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.15363G>C	6.37:g.90365610C>G							p.L5121L	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	92	15479	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	5121					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.15363G>C	CCDS5024.1																																																																																				0.527	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			6	59	0	0	0	0.001984	0	6	59				
CASP8AP2	9994	broad.mit.edu	37	6	90573714	90573714	+	RNA	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr6:90573714C>T	ENST00000551025.1	+	0	3723									caspase 8 associated protein 2									p.S762S(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CCACTGAAAGCATTTTGCAGC	0.368																																					Colon(187;1656 2025 17045 31481 39901)	Colon(187;1656 2025 17045 31481 39901)	uc003pnr.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2284-2286)AGC>AGT		caspase 8 associated protein 2							88.0	86.0	87.0					6																	90573714		1869	4118	5987			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90573714C>T	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90573714C>T						CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Silent_p.S762S|CASP8AP2_uc011dzz.1_Silent_p.S762S	p.S762S	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	7	2482	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)	762						Silent	SNP	ENST00000551025.1	37	c.2286C>T																																																																																					0.368	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		9	103	0	0	0	0.004482	0	9	103				
GPR63	81491	broad.mit.edu	37	6	97247416	97247416	+	Silent	SNP	T	T	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr6:97247416T>A	ENST00000229955.3	-	2	537	c.192A>T	c.(190-192)acA>acT	p.T64T	GPR63_ENST00000417980.1_Silent_p.T64T	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.T64T(1)		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)		TGGGCACAGCTGTACTATTCA	0.443																																							uc010kcl.2		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(190-192)ACA>ACT		G protein-coupled receptor 63							112.0	104.0	107.0					6																	97247416		2203	4300	6503	SO:0001819	synonymous_variant	81491					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr6:97247416T>A	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.192A>T	6.37:g.97247416T>A						GPR63_uc003pou.2_Silent_p.T64T	p.T64T	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0912)	3	670	-		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)	64			Extracellular (Potential).		Q9UJH3	Silent	SNP	ENST00000229955.3	37	c.192A>T	CCDS5036.1																																																																																				0.443	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			10	51	0	0	0	0.006214	0	10	51				
SERINC1	57515	broad.mit.edu	37	6	122773169	122773169	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr6:122773169A>G	ENST00000339697.4	-	6	707	c.623T>C	c.(622-624)cTg>cCg	p.L208P		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	208					L-serine transport (GO:0015825)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)	p.L208P(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		AACTAAAGACAGCAGATAATT	0.383																																							uc003pyy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(622-624)CTG>CCG		serine incorporator 1							78.0	75.0	76.0					6																	122773169		2203	4300	6503	SO:0001583	missense	57515				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding	g.chr6:122773169A>G	AF087902	CCDS5125.1	6q22.32	2006-02-09	2005-10-14	2005-10-14	ENSG00000111897	ENSG00000111897			13464	protein-coding gene	gene with protein product		614548	"""tumor differentially expressed 2"""	TDE2		10637174	Standard	NM_020755		Approved	TMS-2, TDE1L, KIAA1253	uc003pyy.1	Q9NRX5	OTTHUMG00000015487	ENST00000339697.4:c.623T>C	6.37:g.122773169A>G	ENSP00000342962:p.Leu208Pro						p.L208P	NM_020755	NP_065806	Q9NRX5	SERC1_HUMAN		GBM - Glioblastoma multiforme(226;0.126)	6	693	-			208			Helical; (Potential).		B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Missense_Mutation	SNP	ENST00000339697.4	37	c.623T>C	CCDS5125.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.382484	0.82792	.	.	ENSG00000111897	ENST00000339697;ENST00000368454	T;T	0.16073	2.37;2.37	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.40067	0.1102	M	0.86805	2.84	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.49428	-0.8941	10	0.87932	D	0	-8.0454	15.9701	0.80008	1.0:0.0:0.0:0.0	.	208	Q9NRX5	SERC1_HUMAN	P	208	ENSP00000342962:L208P;ENSP00000357439:L208P	ENSP00000342962:L208P	L	-	2	0	SERINC1	122814868	1.000000	0.71417	0.998000	0.56505	0.858000	0.48976	9.339000	0.96797	2.166000	0.68216	0.528000	0.53228	CTG		0.383	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042031.2	NM_020755		7	35	0	0	0	0.001984	0	7	35				
NCOA7	135112	broad.mit.edu	37	6	126199463	126199463	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr6:126199463A>G	ENST00000368357.3	+	6	758	c.406A>G	c.(406-408)Aat>Gat	p.N136D	NCOA7_ENST00000229634.9_Missense_Mutation_p.N32D|NCOA7_ENST00000392477.2_Missense_Mutation_p.N136D|RN7SKP56_ENST00000410513.1_RNA	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	136					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)	p.N136D(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CATCACTCCCAATAAATTGGT	0.338																																							uc010kes.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(406-408)AAT>GAT		nuclear receptor coactivator 7 isoform 1							94.0	87.0	89.0					6																	126199463		2203	4299	6502	SO:0001583	missense	135112				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:126199463A>G	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.406A>G	6.37:g.126199463A>G	ENSP00000357341:p.Asn136Asp					NCOA7_uc003qae.3_Missense_Mutation_p.N136D|NCOA7_uc003qah.2_Missense_Mutation_p.N136D|NCOA7_uc003qai.2_Missense_Mutation_p.N136D|NCOA7_uc010ket.2_Missense_Mutation_p.N32D|NCOA7_uc003qaf.2_Missense_Mutation_p.N136D|NCOA7_uc003qag.2_Missense_Mutation_p.N136D	p.N136D	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	7	855	+			136			LysM.		B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	37	c.406A>G	CCDS5132.1	.	.	.	.	.	.	.	.	.	.	A	32	5.162573	0.94727	.	.	ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000417494;ENST00000229634	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.58	5.58	0.84498	Peptidoglycan-binding Lysin subgroup (1);Peptidoglycan-binding lysin domain (1);	0.000000	0.85682	D	0.000000	T	0.36853	0.0982	N	0.11106	0.095	0.54753	D	0.999982	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.91635	0.999;0.998;0.994;0.998	T	0.52480	-0.8570	10	0.62326	D	0.03	-1.6773	16.0334	0.80603	1.0:0.0:0.0:0.0	.	136;136;136;136	B3KXK4;Q8NI08-2;Q8NI08-4;Q8NI08	.;.;.;NCOA7_HUMAN	D	136;136;136;32	ENSP00000357341:N136D;ENSP00000376269:N136D;ENSP00000406363:N136D;ENSP00000229634:N32D	ENSP00000229634:N32D	N	+	1	0	NCOA7	126241156	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.257000	0.95545	2.243000	0.73865	0.533000	0.62120	AAT		0.338	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748		8	37	0	0	0	0.00308	0	8	37				
BCLAF1	9774	broad.mit.edu	37	6	136597097	136597097	+	Silent	SNP	T	T	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr6:136597097T>G	ENST00000531224.1	-	5	1818	c.1566A>C	c.(1564-1566)cgA>cgC	p.R522R	BCLAF1_ENST00000353331.4_Silent_p.R520R|BCLAF1_ENST00000527536.1_Silent_p.R522R|BCLAF1_ENST00000392348.2_Silent_p.R520R|BCLAF1_ENST00000530767.1_Silent_p.R349R|BCLAF1_ENST00000527759.1_Silent_p.R520R	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	522					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R522R(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TAGACTTTTCTCGTGCATCCA	0.443																																					Colon(142;1534 1789 5427 7063 28491)	Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1564-1566)CGA>CGC		BCL2-associated transcription factor 1 isoform							205.0	212.0	209.0					6																	136597097		2203	4300	6503	SO:0001819	synonymous_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597097T>G	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1566A>C	6.37:g.136597097T>G						BCLAF1_uc003qgw.1_Silent_p.R349R|BCLAF1_uc003qgy.1_Silent_p.R520R|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.R520R	p.R522R	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1819	-	Colorectal(23;0.24)		522					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	ENST00000531224.1	37	c.1566A>C	CCDS5177.1																																																																																				0.443	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		22	227	0	0	0	0.00278	0	22	227				
HOXA3	3200	broad.mit.edu	37	7	27147768	27147768	+	Silent	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr7:27147768G>A	ENST00000396352.4	-	3	1297	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	HOXA3_ENST00000317201.2_Silent_p.F366F|HOXA3_ENST00000521401.1_5'Flank|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	366					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F366F(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TGCCCCCCACGAAGACGGGGC	0.677																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	Esophageal Squamous(136;1368 1743 5685 7935 50360)	uc011jzl.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(2)	2						c.(1096-1098)TTC>TTT		homeobox A3 isoform a							29.0	26.0	27.0					7																	27147768		2203	4299	6502	SO:0001819	synonymous_variant	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27147768G>A		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.1098C>T	7.37:g.27147768G>A						HOXA3_uc011jzk.1_Silent_p.F208F|HOXA3_uc003syk.2_Silent_p.F366F	p.F366F	NM_030661	NP_109377	O43365	HXA3_HUMAN			3	1298	-			366					A4D181	Silent	SNP	ENST00000396352.4	37	c.1098C>T	CCDS5404.1																																																																																				0.677	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			6	21	0	0	0	0.001168	0	6	21				
PKD1L1	168507	broad.mit.edu	37	7	47882626	47882626	+	Silent	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr7:47882626C>T	ENST00000289672.2	-	34	5429	c.5379G>A	c.(5377-5379)ccG>ccA	p.P1793P		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1793					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.P1793P(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCTGATGGCCCGGCAGGGAAG	0.473																																							uc003tny.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(5377-5379)CCG>CCA		polycystin-1L1							59.0	60.0	60.0					7																	47882626		2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47882626C>T	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.5379G>A	7.37:g.47882626C>T							p.P1793P	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			34	5379	-			1793			Cytoplasmic (Potential).		Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.5379G>A	CCDS34633.1																																																																																				0.473	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		14	61	0	0	0	0.001855	0	14	61				
ZPBP	11055	broad.mit.edu	37	7	50070836	50070836	+	Silent	SNP	A	A	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr7:50070836A>G	ENST00000046087.2	-	5	627	c.558T>C	c.(556-558)taT>taC	p.Y186Y	ZPBP_ENST00000419417.1_Silent_p.Y185Y|ZPBP_ENST00000491129.1_Intron	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	186					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)		p.Y186Y(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					AAGAAATATTATAAATGCTAT	0.343																																							uc003tou.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(556-558)TAT>TAC		zona pellucida binding protein isoform 1							42.0	45.0	44.0					7																	50070836		2203	4299	6502	SO:0001819	synonymous_variant	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50070836A>G	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.558T>C	7.37:g.50070836A>G						ZPBP_uc011kci.1_Silent_p.Y112Y|ZPBP_uc010kyw.2_Silent_p.Y185Y	p.Y186Y	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN			5	628	-	Glioma(55;0.08)|all_neural(89;0.245)		186					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Silent	SNP	ENST00000046087.2	37	c.558T>C	CCDS5509.1																																																																																				0.343	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		8	59	0	0	0	0.004482	0	8	59				
GRB10	2887	broad.mit.edu	37	7	50663155	50663155	+	Missense_Mutation	SNP	A	A	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr7:50663155A>C	ENST00000401949.1	-	18	2086	c.1617T>G	c.(1615-1617)atT>atG	p.I539M	GRB10_ENST00000439599.1_Missense_Mutation_p.I533M|GRB10_ENST00000402497.1_Missense_Mutation_p.I481M|GRB10_ENST00000407526.1_Missense_Mutation_p.I481M|GRB10_ENST00000406641.1_Missense_Mutation_p.I481M|GRB10_ENST00000335866.3_Missense_Mutation_p.I481M|GRB10_ENST00000403097.1_Missense_Mutation_p.I533M|GRB10_ENST00000402578.1_Missense_Mutation_p.I481M|GRB10_ENST00000398812.2_Missense_Mutation_p.I539M|GRB10_ENST00000357271.5_Missense_Mutation_p.I493M|GRB10_ENST00000398810.2_Missense_Mutation_p.I481M			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	539	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)	p.I533M(1)|p.I539M(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GGAAATTTTTAATTTTCTGGT	0.378									Russell-Silver syndrome																														uc003tpi.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1615-1617)ATT>ATG		growth factor receptor-bound protein 10 isoform							204.0	205.0	204.0					7																	50663155		1831	4079	5910	SO:0001583	missense	2887	Russell-Silver_syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50663155A>C		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1617T>G	7.37:g.50663155A>C	ENSP00000385770:p.Ile539Met					GRB10_uc003tph.3_Missense_Mutation_p.I481M|GRB10_uc003tpj.2_Missense_Mutation_p.I493M|GRB10_uc003tpk.2_Missense_Mutation_p.I539M|GRB10_uc010kzb.2_Missense_Mutation_p.I481M|GRB10_uc003tpl.2_Missense_Mutation_p.I533M|GRB10_uc003tpm.2_Missense_Mutation_p.I481M|GRB10_uc003tpn.2_Missense_Mutation_p.I481M	p.I539M	NM_005311	NP_005302	Q13322	GRB10_HUMAN			15	1648	-	Glioma(55;0.08)|all_neural(89;0.245)		539			SH2.		A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	ENST00000401949.1	37	c.1617T>G	CCDS43582.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.948532	0.73787	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000398791;ENST00000402497	D;D;D;D;D;D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	5.78	-3.74	0.04385	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.90689	0.7079	M	0.75264	2.295	0.51767	D	0.999939	D;D;D	0.63880	0.993;0.993;0.988	D;D;D	0.69824	0.943;0.943;0.966	D	0.87132	0.2197	10	0.87932	D	0	-19.8045	5.6071	0.17385	0.2445:0.0:0.2345:0.521	.	533;493;539	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	M	539;533;481;481;481;533;481;493;481;539;71;481	ENSP00000381793:I539M;ENSP00000406716:I533M;ENSP00000338543:I481M;ENSP00000381790:I481M;ENSP00000385189:I481M;ENSP00000385544:I533M;ENSP00000385366:I481M;ENSP00000349818:I493M;ENSP00000385046:I481M;ENSP00000385770:I539M;ENSP00000385748:I481M	ENSP00000338543:I481M	I	-	3	3	GRB10	50630649	0.344000	0.24827	0.990000	0.47175	0.998000	0.95712	-0.303000	0.08210	-0.150000	0.11195	0.533000	0.62120	ATT		0.378	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			89	319	0	0	0	0.01441	0	89	319				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658179	72658179	+	RNA	SNP	T	T	C	rs62464331		TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr7:72658179T>C	ENST00000425256.1	-	0	1732									GTF2I repeat domain containing 2 pseudogene 1																		cagagtgatttcggatgaatt	0.507																																							uc003txs.1		NA																	0					0						c.(805-807)AAA>GAA		RecName: Full=General transcription factor II-I repeat domain-containing protein 2B; AltName: Full=GTF2I repeat domain-containing protein 2B; AltName: Full=Transcription factor GTF2IRD2-beta;																																						401375							g.chr7:72658179T>C	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72658179T>C						FKBP6_uc003twz.2_Intron	p.K269E	NR_002164						13	1733	-									Missense_Mutation	SNP	ENST00000425256.1	37	c.805A>G																																																																																					0.507	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		4	47	0	0	0	0.000602	0	4	47				
MOGAT3	346606	broad.mit.edu	37	7	100841637	100841637	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr7:100841637G>A	ENST00000223114.4	-	5	669	c.503C>T	c.(502-504)cCg>cTg	p.P168L	MOGAT3_ENST00000440203.2_Missense_Mutation_p.P168L|MOGAT3_ENST00000379423.3_Missense_Mutation_p.P168L	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	168					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)	p.P168L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GCGGCTCACCGGACAGAGTCC	0.657																																							uc003uyc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(502-504)CCG>CTG		monoacylglycerol O-acyltransferase 3							33.0	38.0	36.0					7																	100841637		2203	4300	6503	SO:0001583	missense	346606				glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	g.chr7:100841637G>A	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.503C>T	7.37:g.100841637G>A	ENSP00000223114:p.Pro168Leu					MOGAT3_uc010lhr.2_Missense_Mutation_p.P168L	p.P168L	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN			5	670	-	Lung NSC(181;0.168)|all_lung(186;0.215)		168					Q496A6|Q496A7|Q496A8|Q9UDW7	Missense_Mutation	SNP	ENST00000223114.4	37	c.503C>T	CCDS5714.1	.	.	.	.	.	.	.	.	.	.	.	18.06	3.540133	0.65085	.	.	ENSG00000106384	ENST00000223114;ENST00000440203;ENST00000379423	D;T;T	0.93811	-3.29;2.55;2.55	5.03	4.14	0.48551	.	0.286396	0.39083	N	0.001467	D	0.95978	0.8690	M	0.77103	2.36	0.22226	N	0.999275	D;D	0.89917	1.0;0.999	D;D	0.69824	0.966;0.958	D	0.90698	0.4618	10	0.62326	D	0.03	-13.8016	12.435	0.55595	0.0:0.0:0.8305:0.1695	.	168;168	Q86VF5-2;Q86VF5	.;MOGT3_HUMAN	L	168	ENSP00000223114:P168L;ENSP00000403756:P168L;ENSP00000368734:P168L	ENSP00000223114:P168L	P	-	2	0	MOGAT3	100628357	0.998000	0.40836	0.001000	0.08648	0.010000	0.07245	7.350000	0.79385	1.092000	0.41356	0.462000	0.41574	CCG		0.657	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	NM_178176		3	26	0	0	0	0.004672	0	3	26				
MET	4233	broad.mit.edu	37	7	116412045	116412045	+	Splice_Site	SNP	T	T	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr7:116412045T>C	ENST00000318493.6	+	14	3269		c.e14+2		MET_ENST00000397752.3_Splice_Site			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase						apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.?(3)|p.982_1028del47(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTCCAGAAGGTATATTTCAGT	0.343			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														uc003vij.2		NA		Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	papillary renal|head-neck squamous cell 		4	Unknown(4)	p.?(2)|p.982_1028del47(1)	lung(3)|central_nervous_system(1)	upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159						c.e14+2		met proto-oncogene isoform b precursor							61.0	57.0	58.0					7																	116412045		1828	4071	5899	SO:0001630	splice_region_variant	4233	Hereditary_Papillary_Renal_Carcinoma_(type_1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116412045T>C	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3082+2T>C	7.37:g.116412045T>C						MET_uc010lkh.2_Splice_Site_p.D1028_splice|MET_uc011knj.1_Splice_Site_p.D580_splice	p.D1010_splice	NM_000245	NP_000236	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		14	3215	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)						A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Splice_Site	SNP	ENST00000318493.6	37	c.3028_splice	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	T	17.95	3.513741	0.64522	.	.	ENSG00000105976	ENST00000397752;ENST00000318493	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1924	0.82000	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MET	116199281	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	7.509000	0.81698	2.287000	0.76781	0.482000	0.46254	.		0.343	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3		Intron	9	32	0	0	0	0.006214	0	9	32				
AKR1B10	57016	broad.mit.edu	37	7	134222969	134222969	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr7:134222969G>C	ENST00000359579.4	+	8	1085	c.765G>C	c.(763-765)caG>caC	p.Q255H		NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	255					cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758)	p.Q255H(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						TCCATATCCAGAGGAATGTGA	0.488																																							uc003vrr.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(5)	5						c.(763-765)CAG>CAC		aldo-keto reductase family 1, member B10							244.0	217.0	226.0					7																	134222969		2203	4300	6503	SO:0001583	missense	57016				cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	g.chr7:134222969G>C	AF052577	CCDS5832.1	7q33	2010-04-08			ENSG00000198074	ENSG00000198074		"""Aldo-keto reductases"""	382	protein-coding gene	gene with protein product	"""aldose reductase-like 1"", ""aldo-keto reductase family 1, member B11 (aldose reductase-like)"", ""aldose reductase-like peptide"", ""aldose reductase-related protein"", ""small intestine reductase"""	604707		AKR1B11		9765596, 9565553	Standard	NM_020299		Approved	AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn	uc003vrr.3	O60218	OTTHUMG00000155356	ENST00000359579.4:c.765G>C	7.37:g.134222969G>C	ENSP00000352584:p.Gln255His						p.Q255H	NM_020299	NP_064695	O60218	AK1BA_HUMAN			8	1085	+			255					A4D1P1|O75890|Q6FHF3|Q8IWZ1	Missense_Mutation	SNP	ENST00000359579.4	37	c.765G>C	CCDS5832.1	.	.	.	.	.	.	.	.	.	.	-	17.02	3.282355	0.59867	.	.	ENSG00000198074	ENST00000359579	T	0.25912	1.77	4.53	3.65	0.41850	NADP-dependent oxidoreductase domain (3);	0.116062	0.64402	D	0.000012	T	0.54191	0.1843	M	0.91459	3.21	0.50813	D	0.99989	D	0.57571	0.98	D	0.71870	0.975	T	0.59600	-0.7424	10	0.87932	D	0	.	8.4532	0.32884	0.1814:0.0:0.8186:0.0	.	255	O60218	AK1BA_HUMAN	H	255	ENSP00000352584:Q255H	ENSP00000352584:Q255H	Q	+	3	2	AKR1B10	133873509	1.000000	0.71417	0.998000	0.56505	0.755000	0.42902	0.896000	0.28377	1.034000	0.39945	0.556000	0.70494	CAG		0.488	AKR1B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339615.1	NM_020299		42	130	0	0	0	0.010771	0	42	130				
XKR6	286046	broad.mit.edu	37	8	10755669	10755669	+	Silent	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr8:10755669C>T	ENST00000416569.2	-	3	1745	c.1719G>A	c.(1717-1719)ccG>ccA	p.P573P	XKR6_ENST00000304437.2_Silent_p.P294P	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	573						integral component of membrane (GO:0016021)		p.P573P(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GACGCCCCAACGGGGTAGGGG	0.557																																							uc003wtk.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1717-1719)CCG>CCA		XK, Kell blood group complex subunit-related							51.0	50.0	50.0					8																	10755669		2203	4300	6503	SO:0001819	synonymous_variant	286046					integral to membrane		g.chr8:10755669C>T	BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1719G>A	8.37:g.10755669C>T							p.P573P	NM_173683	NP_775954	Q5GH73	XKR6_HUMAN		Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)	3	1746	-			573					Q8TBA0	Silent	SNP	ENST00000416569.2	37	c.1719G>A	CCDS5978.2	.	.	.	.	.	.	.	.	.	.	C	2.463	-0.323673	0.05350	.	.	ENSG00000171044	ENST00000382461	.	.	.	4.73	2.92	0.33932	.	.	.	.	.	T	0.54447	0.1859	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46176	-0.9210	4	.	.	.	-1.5329	6.2078	0.20612	0.0:0.6616:0.1567:0.1817	.	.	.	.	H	350	.	.	R	-	2	0	XKR6	10793079	0.896000	0.30565	0.968000	0.41197	0.918000	0.54935	0.180000	0.16860	0.585000	0.29608	-0.266000	0.10368	CGT		0.557	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683		4	44	0	0	0	0.009096	0	4	44				
DPYSL2	1808	broad.mit.edu	37	8	26501589	26501589	+	Silent	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr8:26501589C>T	ENST00000311151.5	+	10	1504	c.1092C>T	c.(1090-1092)gtC>gtT	p.V364V	DPYSL2_ENST00000523027.1_Silent_p.V328V|DPYSL2_ENST00000521913.1_Silent_p.V328V	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	364					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)	p.V364V(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GGATGTCCGTCATCTGGGACA	0.587																																							uc003xfb.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(1090-1092)GTC>GTT		dihydropyrimidinase-like 2							107.0	85.0	92.0					8																	26501589		2203	4300	6503	SO:0001819	synonymous_variant	1808				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	g.chr8:26501589C>T	D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.1092C>T	8.37:g.26501589C>T						DPYSL2_uc003xfa.2_Silent_p.V469V|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Silent_p.V328V	p.V364V	NM_001386	NP_001377	Q16555	DPYL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)	10	1442	+		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)	364					A8K5H2|B4DR31|D3DSS7|O00424	Silent	SNP	ENST00000311151.5	37	c.1092C>T	CCDS6051.1																																																																																				0.587	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386		3	17	0	0	0	0.004672	0	3	17				
CYP7B1	9420	broad.mit.edu	37	8	65509420	65509420	+	Nonsense_Mutation	SNP	T	T	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr8:65509420T>A	ENST00000310193.3	-	6	1473	c.1300A>T	c.(1300-1302)Aag>Tag	p.K434*	CYP7B1_ENST00000523954.1_Intron	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	434					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)	p.K434*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				CACTTCAGCTTTTTCCCTCTT	0.333																																							uc003xvj.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(1300-1302)AAG>TAG		cytochrome P450, family 7, subfamily B,							56.0	56.0	56.0					8																	65509420		2203	4300	6503	SO:0001587	stop_gained	9420				bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr8:65509420T>A	AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.1300A>T	8.37:g.65509420T>A	ENSP00000310721:p.Lys434*						p.K434*	NM_004820	NP_004811	O75881	CP7B1_HUMAN			6	1504	-		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	434					B2RN07|Q9UNF5	Nonsense_Mutation	SNP	ENST00000310193.3	37	c.1300A>T	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	T	37	6.333501	0.97480	.	.	ENSG00000172817	ENST00000310193	.	.	.	5.55	2.79	0.32731	.	0.300605	0.36303	N	0.002667	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.0107	8.9481	0.35771	0.0:0.0755:0.1282:0.7963	.	.	.	.	X	434	.	ENSP00000310721:K434X	K	-	1	0	CYP7B1	65671974	0.766000	0.28496	0.108000	0.21378	0.991000	0.79684	2.212000	0.42835	0.908000	0.36671	0.460000	0.39030	AAG		0.333	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1			5	50	0	0	0	0.000602	0	5	50				
DCAF4L2	138009	broad.mit.edu	37	8	88885615	88885615	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr8:88885615G>T	ENST00000319675.3	-	1	681	c.585C>A	c.(583-585)caC>caA	p.H195Q		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	195								p.H195Q(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AGTGATACGCGTGGATGCTCA	0.557																																							uc003ydz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(583-585)CAC>CAA		WD repeat domain 21C							164.0	146.0	152.0					8																	88885615		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885615G>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.585C>A	8.37:g.88885615G>T	ENSP00000316496:p.His195Gln						p.H195Q	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	682	-			195						Missense_Mutation	SNP	ENST00000319675.3	37	c.585C>A	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.905131	0.00512	.	.	ENSG00000176566	ENST00000319675	T	0.73681	-0.77	1.39	-2.79	0.05841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.161453	0.56097	N	0.000022	T	0.30293	0.0760	N	0.00960	-1.095	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.41538	-0.9503	10	0.02654	T	1	.	3.2949	0.06963	0.2614:0.4371:0.3015:0.0	.	195	Q8NA75	DC4L2_HUMAN	Q	195	ENSP00000316496:H195Q	ENSP00000316496:H195Q	H	-	3	2	DCAF4L2	88954731	1.000000	0.71417	0.000000	0.03702	0.008000	0.06430	1.088000	0.30877	-1.089000	0.03073	-0.373000	0.07131	CAC		0.557	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		5	104	1	0	1.23904e-05	0.000602	1.4898e-05	5	104				
FAM83A	84985	broad.mit.edu	37	8	124195477	124195477	+	Silent	SNP	C	C	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr8:124195477C>G	ENST00000518448.1	+	2	2395	c.381C>G	c.(379-381)ccC>ccG	p.P127P	FAM83A_ENST00000522648.1_Silent_p.P127P|RP11-539E17.5_ENST00000522383.1_RNA|FAM83A_ENST00000546351.1_Silent_p.P127P|U3_ENST00000408534.1_RNA|FAM83A_ENST00000536633.1_Silent_p.P127P|FAM83A_ENST00000318462.6_Silent_p.P127P|FAM83A_ENST00000276699.6_Silent_p.P127P			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	127								p.P127P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CTGAGAAGCCCTACCTGAAGG	0.612																																							uc003ypv.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(379-381)CCC>CCG		hypothetical protein LOC84985 isoform a							68.0	70.0	69.0					8																	124195477		2203	4300	6503	SO:0001819	synonymous_variant	84985							g.chr8:124195477C>G	BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.381C>G	8.37:g.124195477C>G						FAM83A_uc003ypw.2_Silent_p.P127P|FAM83A_uc003ypy.2_Silent_p.P127P|FAM83A_uc003ypx.2_Silent_p.P127P|FAM83A_uc003ypz.2_Silent_p.P127P	p.P127P	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		2	2395	+	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		127					Q71HL2|Q8N7I1|Q96I47	Silent	SNP	ENST00000518448.1	37	c.381C>G	CCDS6340.1																																																																																				0.612	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		14	120	0	0	0	0.00499	0	14	120				
EFR3A	23167	broad.mit.edu	37	8	132982805	132982805	+	Silent	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr8:132982805G>C	ENST00000254624.5	+	10	1299	c.1074G>C	c.(1072-1074)ggG>ggC	p.G358G	EFR3A_ENST00000334503.4_Silent_p.G358G|EFR3A_ENST00000519656.1_Silent_p.G322G	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	358			G -> R (in dbSNP:rs2270877).			extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)		p.G358G(1)|p.S348fs*15(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			ATTTACAGGGGGGATCTGTAG	0.403																																							uc003yte.2		NA																	2	Deletion - Frameshift(1)|Substitution - coding silent(1)	p.S348fs*15(1)	lung(1)|breast(1)	ovary(3)|breast(1)|central_nervous_system(1)	5						c.(1072-1074)GGG>GGC		EFR3 homolog A							107.0	103.0	104.0					8																	132982805		2203	4300	6503	SO:0001819	synonymous_variant	23167					plasma membrane	binding	g.chr8:132982805G>C	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.1074G>C	8.37:g.132982805G>C							p.G358G	NM_015137	NP_055952	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		10	1275	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		358					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Silent	SNP	ENST00000254624.5	37	c.1074G>C	CCDS34942.2																																																																																				0.403	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		5	69	0	0	0	0.000602	0	5	69				
GLIS3	169792	broad.mit.edu	37	9	3879429	3879429	+	Silent	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr9:3879429C>T	ENST00000324333.10	-	7	2023	c.1830G>A	c.(1828-1830)gaG>gaA	p.E610E	RP11-252M18.3_ENST00000422150.1_RNA|GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Silent_p.E765E	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	610					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in 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)	p.E610E(1)|p.E765E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GGCCTTACCTCTCAGCTCCTG	0.517																																							uc003zhw.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1828-1830)GAG>GAA		GLIS family zinc finger 3 isoform b							106.0	100.0	102.0					9																	3879429		2203	4300	6503	SO:0001819	synonymous_variant	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:3879429C>T	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1830G>A	9.37:g.3879429C>T						GLIS3_uc003zhx.1_Silent_p.E765E|GLIS3_uc010mhf.1_Silent_p.E159E|GLIS3_uc003zhv.1_RNA|GLIS3_uc003zhy.1_Silent_p.E543E	p.E610E	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	7	2024	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	610					B1AL19|Q1PHK5	Silent	SNP	ENST00000324333.10	37	c.1830G>A	CCDS6451.1																																																																																				0.517	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		4	58	0	0	0	0.000602	0	4	58				
FOCAD	54914	broad.mit.edu	37	9	20933099	20933099	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr9:20933099A>T	ENST00000380249.1	+	30	3768	c.3404A>T	c.(3403-3405)tAc>tTc	p.Y1135F	FOCAD_ENST00000605086.1_Missense_Mutation_p.Y571F|FOCAD_ENST00000338382.6_Missense_Mutation_p.Y1135F	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1135						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)		p.Y1135F(1)									AGTCTTGAATACAAGTATGTT	0.383																																							uc003zog.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(1)|kidney(1)	10						c.(3403-3405)TAC>TTC		hypothetical protein LOC54914							159.0	144.0	149.0					9																	20933099		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20933099A>T	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.3404A>T	9.37:g.20933099A>T	ENSP00000369599:p.Tyr1135Phe					KIAA1797_uc003zoh.1_Missense_Mutation_p.Y571F	p.Y1135F	NM_017794	NP_060264	Q5VW36	K1797_HUMAN		GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)	30	3767	+			1135					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.3404A>T	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.790114	0.70337	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.67171	-0.25;-0.25	5.91	4.74	0.60224	Armadillo-type fold (1);	0.174941	0.52532	D	0.000070	T	0.53158	0.1779	L	0.40543	1.245	0.53688	D	0.999975	P	0.43633	0.813	B	0.35413	0.202	T	0.49011	-0.8983	10	0.25106	T	0.35	-18.2618	13.0955	0.59188	0.8661:0.1339:0.0:0.0	.	1135	Q5VW36	K1797_HUMAN	F	1135	ENSP00000369599:Y1135F;ENSP00000344307:Y1135F	ENSP00000344307:Y1135F	Y	+	2	0	KIAA1797	20923099	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.461000	0.90372	1.013000	0.39391	0.533000	0.62120	TAC		0.383	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		8	61	0	0	0	0.006214	0	8	61				
FOCAD	54914	broad.mit.edu	37	9	20933101	20933101	+	Splice_Site	SNP	A	A	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr9:20933101A>T	ENST00000380249.1	+	30	3770	c.3406A>T	c.(3406-3408)Aac>Tac	p.N1136Y	FOCAD_ENST00000605086.1_Splice_Site_p.N572Y|FOCAD_ENST00000338382.6_Splice_Site_p.N1136Y	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1136						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)		p.N1136Y(1)									TCTTGAATACAAGTATGTTGT	0.378																																							uc003zog.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(1)|kidney(1)	10						c.(3406-3408)AAC>TAC		hypothetical protein LOC54914							157.0	142.0	147.0					9																	20933101		2203	4300	6503	SO:0001630	splice_region_variant	54914					integral to membrane	binding	g.chr9:20933101A>T	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.3407+1A>T	9.37:g.20933101A>T						KIAA1797_uc003zoh.1_Missense_Mutation_p.N572Y	p.N1136Y	NM_017794	NP_060264	Q5VW36	K1797_HUMAN		GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)	30	3769	+			1136					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.3406A>T	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.062340	0.76187	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.68025	-0.3;-0.3	5.91	5.91	0.95273	Armadillo-type fold (1);	0.135240	0.64402	D	0.000004	T	0.66096	0.2755	L	0.60455	1.87	0.80722	D	1	P	0.37955	0.612	B	0.37833	0.259	T	0.68957	-0.5272	10	0.56958	D	0.05	-19.6446	16.3453	0.83126	1.0:0.0:0.0:0.0	.	1136	Q5VW36	K1797_HUMAN	Y	1136	ENSP00000369599:N1136Y;ENSP00000344307:N1136Y	ENSP00000344307:N1136Y	N	+	1	0	KIAA1797	20923101	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.461000	0.90372	2.261000	0.74972	0.533000	0.62120	AAC		0.378	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794	Missense_Mutation	7	61	0	0	0	0.004482	0	7	61				
SPATA31A3	727830	broad.mit.edu	37	9	40702809	40702809	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr9:40702809G>A	ENST00000356699.5	+	4	495	c.466G>A	c.(466-468)Gat>Aat	p.D156N	RP11-395E19.5_ENST00000432614.1_lincRNA|SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	156	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.D156N(2)									AGCTTCCCCGGATCCTCAAGC	0.597																																							uc010mmj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(466-468)GAT>AAT		hypothetical protein LOC727830							65.0	77.0	73.0					9																	40702809		1946	4118	6064	SO:0001583	missense	727830					integral to membrane		g.chr9:40702809G>A			9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A3"""	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.466G>A	9.37:g.40702809G>A	ENSP00000349132:p.Asp156Asn						p.D156N	NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	4	495	+			156			Pro-rich.			Missense_Mutation	SNP	ENST00000356699.5	37	c.466G>A	CCDS47969.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716353	0.30413	.	.	ENSG00000147926	ENST00000356699	T	0.04454	3.62	2.0	-0.116	0.13555	.	1.824180	0.03873	N	0.275955	T	0.07593	0.0191	L	0.50333	1.59	0.09310	N	1	D	0.56968	0.978	P	0.50049	0.629	T	0.34304	-0.9834	10	0.15499	T	0.54	-0.6601	3.0646	0.06210	0.1879:0.2891:0.5229:0.0	.	156	Q5VYP0	F75A3_HUMAN	N	156	ENSP00000349132:D156N	ENSP00000349132:D156N	D	+	1	0	FAM75A3	40692809	0.001000	0.12720	0.003000	0.11579	0.037000	0.13140	0.115000	0.15540	-0.019000	0.14055	0.404000	0.27445	GAT		0.597	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036919.1	NM_001083124		43	262	0	0	0	0.01441	0	43	262				
SLC28A3	64078	broad.mit.edu	37	9	86917148	86917148	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr9:86917148C>T	ENST00000376238.4	-	5	540	c.491G>A	c.(490-492)aGg>aAg	p.R164K	SLC28A3_ENST00000537648.1_Missense_Mutation_p.R95K	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	164					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)	p.R164K(1)		endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	GTTTAGAAGCCTTCTGCCAGG	0.433																																					Ovarian(106;425 1539 34835 42413 43572)	Ovarian(106;425 1539 34835 42413 43572)	uc010mpz.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(490-492)AGG>AAG		concentrative Na+-nucleoside cotransporter							114.0	105.0	108.0					9																	86917148		2203	4300	6503	SO:0001583	missense	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86917148C>T	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.491G>A	9.37:g.86917148C>T	ENSP00000365413:p.Arg164Lys					SLC28A3_uc011lsy.1_Missense_Mutation_p.R95K|SLC28A3_uc004anu.1_Missense_Mutation_p.R164K|SLC28A3_uc010mqb.2_Missense_Mutation_p.R95K	p.R164K	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN			5	616	-			164			Cytoplasmic (Potential).		A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	37	c.491G>A	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.405306	0.01155	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	T;T	0.01665	4.88;4.7	5.33	2.51	0.30379	.	0.496613	0.23151	N	0.051343	T	0.01092	0.0036	N	0.25890	0.77	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.48536	-0.9027	10	0.06891	T	0.86	-0.0379	1.6129	0.02697	0.1486:0.4796:0.1437:0.2281	.	95;164	B4E2S8;Q9HAS3	.;S28A3_HUMAN	K	164;95	ENSP00000365413:R164K;ENSP00000446438:R95K	ENSP00000365413:R164K	R	-	2	0	SLC28A3	86106968	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.657000	0.05335	0.391000	0.25143	-0.794000	0.03295	AGG		0.433	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127		16	69	0	0	0	0.006122	0	16	69				
COL15A1	1306	broad.mit.edu	37	9	101765772	101765772	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr9:101765772C>A	ENST00000375001.3	+	8	1526	c.1103C>A	c.(1102-1104)cCc>cAc	p.P368H		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	368	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.P368H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GCCGAGGTGCCCATCAGCACT	0.587																																							uc004azb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(1102-1104)CCC>CAC		alpha 1 type XV collagen precursor							76.0	81.0	79.0					9																	101765772		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101765772C>A	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1103C>A	9.37:g.101765772C>A	ENSP00000364140:p.Pro368His						p.P368H	NM_001855	NP_001846	P39059	COFA1_HUMAN			8	1309	+		Acute lymphoblastic leukemia(62;0.0562)	368			Nonhelical region 1 (NC1).|1.|4 X tandem repeats.		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.1103C>A	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	9.120	1.008717	0.19199	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.90069	-2.61	3.77	2.86	0.33363	.	1.166110	0.06527	N	0.740696	D	0.83225	0.5208	L	0.34521	1.04	0.09310	N	1	P	0.50710	0.938	B	0.41946	0.371	T	0.72475	-0.4282	10	0.39692	T	0.17	0.0127	7.5768	0.27942	0.0:0.8818:0.0:0.1182	.	368	P39059	COFA1_HUMAN	H	368;338	ENSP00000364140:P368H	ENSP00000364140:P368H	P	+	2	0	COL15A1	100805593	0.002000	0.14202	0.001000	0.08648	0.003000	0.03518	1.710000	0.37920	1.146000	0.42352	0.561000	0.74099	CCC		0.587	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		23	101	1	0	7.07758e-08	0.004656	8.99164e-08	23	101				
RNF20	56254	broad.mit.edu	37	9	104314736	104314736	+	Silent	SNP	G	G	A	rs146044886		TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr9:104314736G>A	ENST00000389120.3	+	13	1692	c.1602G>A	c.(1600-1602)gcG>gcA	p.A534A	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	534					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A534A(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		ATGAGCCTGCGGAGCTAAAAC	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		19675	0.0		0.0	False		,,,				2504	0.001						uc004bbn.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8						c.(1600-1602)GCG>GCA		ring finger protein 20		G		0,4406		0,0,2203	122.0	134.0	130.0		1602	-3.9	0.9	9	dbSNP_134	130	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RNF20	NM_019592.5		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		534/976	104314736	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104314736G>A	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1602G>A	9.37:g.104314736G>A							p.A534A	NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	13	1692	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	534			Potential.		A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Silent	SNP	ENST00000389120.3	37	c.1602G>A	CCDS35084.1																																																																																				0.502	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		15	150	0	0	0	0.003163	0	15	150				
WDR38	401551	broad.mit.edu	37	9	127618838	127618838	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr9:127618838G>A	ENST00000373574.1	+	6	633	c.577G>A	c.(577-579)Gcc>Acc	p.A193T		NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	193			A -> G (in dbSNP:rs10760381). {ECO:0000269|PubMed:15489334}.		hematopoietic progenitor cell differentiation (GO:0002244)			p.A193T(1)		breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GGGACACAGTGCCAACATCAG	0.642																																							uc004box.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(577-579)GCC>ACC		WD repeat domain 38							29.0	34.0	32.0					9																	127618838		2050	4195	6245	SO:0001583	missense	401551							g.chr9:127618838G>A		CCDS43876.1, CCDS75898.1, CCDS75899.1	9q33.3	2013-01-09			ENSG00000136918	ENSG00000136918		"""WD repeat domain containing"""	23745	protein-coding gene	gene with protein product							Standard	NM_001276375		Approved		uc011lzo.3	Q5JTN6	OTTHUMG00000020664	ENST00000373574.1:c.577G>A	9.37:g.127618838G>A	ENSP00000362677:p.Ala193Thr					WDR38_uc011lzn.1_Missense_Mutation_p.A182T|WDR38_uc011lzo.1_Missense_Mutation_p.A193T|WDR38_uc011lzp.1_Missense_Mutation_p.A144T	p.A193T	NM_001045476	NP_001038941	Q5JTN6	WDR38_HUMAN			6	633	+			193			WD 5.		A0PK24	Missense_Mutation	SNP	ENST00000373574.1	37	c.577G>A	CCDS43876.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.785078	0.49997	.	.	ENSG00000136918	ENST00000373574	T	0.61040	0.14	4.68	2.82	0.32997	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.227162	0.36268	N	0.002684	T	0.47395	0.1443	L	0.53729	1.69	0.09310	N	0.999997	B	0.09022	0.002	B	0.12156	0.007	T	0.37244	-0.9714	10	0.36615	T	0.2	.	6.6056	0.22724	0.2958:0.0:0.7042:0.0	.	193	Q5JTN6	WDR38_HUMAN	T	193	ENSP00000362677:A193T	ENSP00000362677:A193T	A	+	1	0	WDR38	126658659	0.992000	0.36948	0.637000	0.29366	0.957000	0.61999	2.280000	0.43443	0.570000	0.29347	0.561000	0.74099	GCC		0.642	WDR38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054048.1	NM_001045476		7	13	0	0	0	0.001984	0	7	13				
TTC16	158248	broad.mit.edu	37	9	130488670	130488670	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr9:130488670C>G	ENST00000373289.3	+	10	1492	c.1412C>G	c.(1411-1413)cCc>cGc	p.P471R	PTRH1_ENST00000429848.1_5'Flank|TTC16_ENST00000489226.1_3'UTR|PTRH1_ENST00000419060.1_5'Flank	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	471								p.P471R(1)		central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CTCCTCAACCCCAAGCAACCA	0.582																																							uc004brq.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1411-1413)CCC>CGC		tetratricopeptide repeat domain 16							42.0	48.0	46.0					9																	130488670		2203	4300	6503	SO:0001583	missense	158248						binding	g.chr9:130488670C>G	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.1412C>G	9.37:g.130488670C>G	ENSP00000362386:p.Pro471Arg					PTRH1_uc011mah.1_5'Flank|TTC16_uc011mai.1_Missense_Mutation_p.P458R|TTC16_uc004brr.1_Missense_Mutation_p.P369A|TTC16_uc010mxn.1_Missense_Mutation_p.P67R	p.P471R	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN			10	1479	+			471					B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	37	c.1412C>G	CCDS6875.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328831	0.60743	.	.	ENSG00000167094	ENST00000373289;ENST00000373288;ENST00000316259	T	0.74002	-0.8	5.19	5.19	0.71726	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.56097	D	0.000027	D	0.84392	0.5462	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.66602	0.945;0.945	D	0.86246	0.1646	10	0.87932	D	0	-38.6428	17.3226	0.87240	0.0:1.0:0.0:0.0	.	458;471	B4DZ42;Q8NEE8	.;TTC16_HUMAN	R	471;249;368	ENSP00000362386:P471R	ENSP00000319048:P368R	P	+	2	0	TTC16	129528491	1.000000	0.71417	0.122000	0.21767	0.667000	0.39255	5.517000	0.67061	2.416000	0.81992	0.400000	0.26472	CCC		0.582	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		3	54	0	0	0	0.004672	0	3	54				
COL5A1	1289	broad.mit.edu	37	9	137646164	137646164	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr9:137646164G>T	ENST00000371817.3	+	16	2233	c.1819G>T	c.(1819-1821)Gga>Tga	p.G607*		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	607	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.G607*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGGGAAGCCCGGAAGACGGGT	0.642																																							uc004cfe.2		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(1819-1821)GGA>TGA		alpha 1 type V collagen preproprotein							68.0	84.0	79.0					9																	137646164		2203	4300	6503	SO:0001587	stop_gained	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137646164G>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1819G>T	9.37:g.137646164G>T	ENSP00000360882:p.Gly607*						p.G607*	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	16	2201	+		Myeloproliferative disorder(178;0.0341)	607			Triple-helical region.		Q15094|Q5SUX4	Nonsense_Mutation	SNP	ENST00000371817.3	37	c.1819G>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	42	9.776332	0.99261	.	.	ENSG00000130635	ENST00000371817	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.028	0.86453	0.0:0.0:1.0:0.0	.	.	.	.	X	607	.	ENSP00000360882:G607X	G	+	1	0	COL5A1	136785985	1.000000	0.71417	1.000000	0.80357	0.362000	0.29581	8.205000	0.89743	2.295000	0.77249	0.563000	0.77884	GGA		0.642	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		16	81	1	0	1.01871e-10	0.008871	1.33623e-10	16	81				
QSOX2	169714	broad.mit.edu	37	9	139110585	139110585	+	Missense_Mutation	SNP	G	G	C	rs187369560		TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr9:139110585G>C	ENST00000358701.5	-	8	1063	c.1026C>G	c.(1024-1026)caC>caG	p.H342Q		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	342					cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)	p.H342Q(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CCAGGGACTTGTGGGCTGCCA	0.597																																							uc010nbi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1024-1026)CAC>CAG		quiescin Q6 sulfhydryl oxidase 2 precursor							77.0	59.0	65.0					9																	139110585		2203	4300	6503	SO:0001583	missense	169714				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	g.chr9:139110585G>C	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"""quiescin Q6-like 1"""	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.1026C>G	9.37:g.139110585G>C	ENSP00000351536:p.His342Gln						p.H342Q	NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)	8	1064	-		Myeloproliferative disorder(178;0.0511)	342					A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Missense_Mutation	SNP	ENST00000358701.5	37	c.1026C>G	CCDS35178.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.83|13.83	2.352717|2.352717	0.41700|0.41700	.|.	.|.	ENSG00000165661|ENSG00000165661	ENST00000358701;ENST00000389471|ENST00000455222	T|.	0.16073|.	2.37|.	4.86|4.86	3.74|3.74	0.42951|0.42951	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74756|0.74756	0.3758|0.3758	M|M	0.80982|0.80982	2.52|2.52	0.48511|0.48511	D|D	0.999668|0.999668	D|.	0.76494|.	0.999|.	D|.	0.68353|.	0.957|.	T|T	0.76903|0.76903	-0.2787|-0.2787	10|5	0.29301|.	T|.	0.29|.	-28.2672|-28.2672	13.1078|13.1078	0.59257|0.59257	0.0944:0.0:0.9056:0.0|0.0944:0.0:0.9056:0.0	.|.	342|.	Q6ZRP7|.	QSOX2_HUMAN|.	Q|E	342;141|110	ENSP00000351536:H342Q|.	ENSP00000351536:H342Q|.	H|Q	-|-	3|1	2|0	QSOX2|QSOX2	138250406|138250406	1.000000|1.000000	0.71417|0.71417	0.563000|0.563000	0.28383|0.28383	0.427000|0.427000	0.31564|0.31564	2.844000|2.844000	0.48246|0.48246	2.234000|2.234000	0.73211|0.73211	0.436000|0.436000	0.28706|0.28706	CAC|CAA		0.597	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701		5	39	0	0	0	0.001984	0	5	39				
ARSF	416	broad.mit.edu	37	X	3002444	3002444	+	Silent	SNP	C	C	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chrX:3002444C>G	ENST00000381127.1	+	6	788	c.567C>G	c.(565-567)ctC>ctG	p.L189L	ARSF_ENST00000537104.1_Silent_p.L189L|ARSF_ENST00000359361.2_Silent_p.L189L	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	189					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 vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.L189L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGAGTCAGCTCTGGCTCTGTG	0.537																																							uc004cre.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(565-567)CTC>CTG		arylsulfatase F precursor							151.0	114.0	127.0					X																	3002444		2203	4300	6503	SO:0001819	synonymous_variant	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3002444C>G	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.567C>G	X.37:g.3002444C>G						ARSF_uc004crf.1_Silent_p.L189L	p.L189L	NM_004042	NP_004033	P54793	ARSF_HUMAN			6	788	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	189					Q8TCC5	Silent	SNP	ENST00000381127.1	37	c.567C>G	CCDS14123.1																																																																																				0.537	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			4	48	0	0	0	0.000602	0	4	48				
SMC1A	8243	broad.mit.edu	37	X	53432771	53432771	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chrX:53432771C>T	ENST00000322213.4	-	10	1790	c.1663G>A	c.(1663-1665)Gac>Aac	p.D555N	SMC1A_ENST00000375340.6_Missense_Mutation_p.D321N	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	555	Flexible hinge.				DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.D555N(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TGAATACAGTCCCGGCCTGTC	0.517																																							uc004dsg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(1)	6						c.(1663-1665)GAC>AAC		structural maintenance of chromosomes 1A							94.0	74.0	81.0					X																	53432771		2203	4300	6503	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53432771C>T	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.1663G>A	X.37:g.53432771C>T	ENSP00000323421:p.Asp555Asn					SMC1A_uc011moe.1_Missense_Mutation_p.D533N|SMC1A_uc011mof.1_Missense_Mutation_p.D321N	p.D555N	NM_006306	NP_006297	Q14683	SMC1A_HUMAN			10	1732	-			555			Flexible hinge.		O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.1663G>A	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.941046	0.73557	.	.	ENSG00000072501	ENST00000322213;ENST00000375340	D;D	0.85773	-2.03;-2.03	5.15	5.15	0.70609	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.90380	0.6989	L	0.54965	1.715	0.80722	D	1	D;B;B	0.71674	0.998;0.434;0.245	D;B;B	0.77557	0.99;0.333;0.144	D	0.90300	0.4329	10	0.49607	T	0.09	.	16.9916	0.86355	0.0:1.0:0.0:0.0	.	321;533;555	B7Z709;Q6MZR8;Q14683	.;.;SMC1A_HUMAN	N	555;321	ENSP00000323421:D555N;ENSP00000364489:D321N	ENSP00000323421:D555N	D	-	1	0	SMC1A	53449496	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.491000	0.81471	2.476000	0.83614	0.600000	0.82982	GAC		0.517	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		4	18	0	0	0	0.009096	0	4	18				
PABPC5	140886	broad.mit.edu	37	X	90690801	90690801	+	Silent	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chrX:90690801C>A	ENST00000312600.3	+	2	439	c.225C>A	c.(223-225)gcC>gcA	p.A75A	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	75	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.A75A(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CAGAGTGGGCCTTGAACACCA	0.512																																							uc004efg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|pancreas(1)	3						c.(223-225)GCC>GCA		poly(A) binding protein, cytoplasmic 5							41.0	34.0	36.0					X																	90690801		2203	4299	6502	SO:0001819	synonymous_variant	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90690801C>A	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.225C>A	X.37:g.90690801C>A						PABPC5_uc004eff.1_Intron	p.A75A	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN			2	665	+			75			RRM 1.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Silent	SNP	ENST00000312600.3	37	c.225C>A	CCDS14460.1																																																																																				0.512	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		8	14	1	0	0.000157383	0.00308	0.000178604	8	14				
IRS4	8471	broad.mit.edu	37	X	107975900	107975900	+	Silent	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chrX:107975900G>T	ENST00000372129.2	-	1	3751	c.3675C>A	c.(3673-3675)ccC>ccA	p.P1225P	RP6-24A23.6_ENST00000563887.1_Silent_p.P6P	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1225					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.P1225P(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTCTCTCCGGGGGTCTTGGCA	0.577																																							uc004eoc.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(3673-3675)CCC>CCA		insulin receptor substrate 4							104.0	105.0	105.0					X																	107975900		2203	4300	6503	SO:0001819	synonymous_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107975900G>T	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3675C>A	X.37:g.107975900G>T							p.P1225P	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	3708	-			1225						Silent	SNP	ENST00000372129.2	37	c.3675C>A	CCDS14544.1																																																																																				0.577	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		57	105	1	0	4.33383e-22	0.01441	5.99612e-22	57	105				
TRPC5	7224	broad.mit.edu	37	X	111019956	111019956	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chrX:111019956G>C	ENST00000262839.2	-	11	3425	c.2507C>G	c.(2506-2508)tCc>tGc	p.S836C		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	836					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.S836C(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ACCCATGAAGGAGCGTTTGCT	0.458																																							uc004epl.1		NA																	1	Substitution - Missense(1)		lung(1)	urinary_tract(1)	1						c.(2506-2508)TCC>TGC		transient receptor potential cation channel,							150.0	128.0	136.0					X																	111019956		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111019956G>C	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.2507C>G	X.37:g.111019956G>C	ENSP00000262839:p.Ser836Cys						p.S836C	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			11	3426	-			836			Cytoplasmic (Potential).		B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.2507C>G	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321753	0.60634	.	.	ENSG00000072315	ENST00000262839	T	0.71817	-0.6	5.71	5.71	0.89125	.	0.392282	0.23067	N	0.052314	T	0.74329	0.3702	N	0.14661	0.345	0.46521	D	0.999088	D	0.69078	0.997	D	0.70935	0.971	T	0.79198	-0.1902	10	0.72032	D	0.01	-16.239	18.8734	0.92325	0.0:0.0:1.0:0.0	.	836	Q9UL62	TRPC5_HUMAN	C	836	ENSP00000262839:S836C	ENSP00000262839:S836C	S	-	2	0	TRPC5	110906612	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.723000	0.74742	2.404000	0.81709	0.600000	0.82982	TCC		0.458	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		21	89	0	0	0	0.014323	0	21	89				
UBR4	23352	broad.mit.edu	37	1	19499434	19499434	+	Frame_Shift_Del	DEL	G	G	-			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:19499434delG	ENST00000375254.3	-	25	3472	c.3445delC	c.(3445-3447)catfs	p.H1149fs	UBR4_ENST00000375217.2_Frame_Shift_Del_p.H1149fs|UBR4_ENST00000375267.2_Frame_Shift_Del_p.H1149fs|UBR4_ENST00000375226.2_Frame_Shift_Del_p.H1149fs	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1149					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GACGACTTATGAGGATCAGTC	0.512																																							uc001bbi.2		NA																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(3445-3447)CATfs		retinoblastoma-associated factor 600							91.0	84.0	87.0					1																	19499434		2203	4300	6503	SO:0001589	frameshift_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19499434delG	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.3445delC	1.37:g.19499434delG	ENSP00000364403:p.His1149fs					UBR4_uc001bbm.1_Frame_Shift_Del_p.H360fs	p.H1149fs	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	25	3449	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1149					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Frame_Shift_Del	DEL	ENST00000375254.3	37	c.3445delC	CCDS189.1																																																																																				0.512	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		13	69	NA	NA	NA	NA	NA	13	69	---	---	---	---
CD55	1604	broad.mit.edu	37	1	207504605	207504607	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	GAA	GAA	-	-	GAA	GAA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:207504605_207504607delGAA	ENST00000367064.3	+	6	1075_1077	c.817_819delGAA	c.(817-819)gaadel	p.E273del	CD55_ENST00000367062.4_In_Frame_Del_p.E273del|CD55_ENST00000391921.4_In_Frame_Del_p.E209del|CD55_ENST00000367063.2_In_Frame_Del_p.E273del|CD55_ENST00000367065.5_In_Frame_Del_p.E273del|CD55_ENST00000391920.4_In_Frame_Del_p.E273del|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000314754.8_In_Frame_Del_p.E273del	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	273	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				CD4-positive, alpha-beta T cell cytokine production (GO:0035743)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|maternal process involved in parturition (GO:0060137)|negative regulation of complement activation (GO:0045916)|positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of complement activation (GO:0030449)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|respiratory burst (GO:0045730)|response to peptide hormone (GO:0043434)|response to virus (GO:0009615)|spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	enzyme inhibitor activity (GO:0004857)|lipid binding (GO:0008289)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	GAATAATGATGAAGGAGAGTGGA	0.394																																							uc001hfq.3		NA																	0				ovary(1)	1						c.(817-819)GAAdel		decay accelerating factor for complement isoform	Chloramphenicol(DB00446)																																			SO:0001651	inframe_deletion	1604				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity	g.chr1:207504605_207504607delGAA	BC001288	CCDS31006.1, CCDS44307.1, CCDS73022.1	1q32	2014-09-17	2006-03-28	2006-02-23	ENSG00000196352	ENSG00000196352		"""CD molecules"", ""Blood group antigens"""	2665	protein-coding gene	gene with protein product		125240	"""decay accelerating factor for complement (CD55, Cromer blood group system)"""	DAF			Standard	XM_005273077		Approved	CR, TC, CROM	uc001hfr.4	P08174	OTTHUMG00000036255	ENST00000367064.3:c.817_819delGAA	1.37:g.207504605_207504607delGAA	ENSP00000356031:p.Glu273del					CD55_uc001hfp.3_In_Frame_Del_p.E273del|CD55_uc001hfr.3_In_Frame_Del_p.E273del|CD55_uc010psf.1_RNA|CD55_uc009xcf.2_In_Frame_Del_p.E209del|CD55_uc009xce.2_In_Frame_Del_p.E273del|CD55_uc009xcg.2_In_Frame_Del_p.E15del	p.E273del	NM_000574	NP_000565	P08174	DAF_HUMAN			6	1111_1113	+			273			Sushi 4.		B1AP14|D3DT83|D3DT84|E7ER69|P09679|P78361|Q14UF2|Q14UF3|Q14UF4|Q14UF5|Q14UF6	In_Frame_Del	DEL	ENST00000367064.3	37	c.817_819delGAA	CCDS31006.1																																																																																				0.394	CD55-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088208.2	NM_000574		10	131	NA	NA	NA	NA	NA	10	131	---	---	---	---
GOLGA6L7P	728310	broad.mit.edu	37	15	29090935	29090936	+	RNA	INS	-	-	T	rs199661446	byFrequency	TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr15:29090935_29090936insT	ENST00000569815.1	-	0	408_409					NR_047567.1				golgin A6 family-like 7, pseudogene																		ACACATAAGGATTCGTATGGTA	0.505													|||unknown(NO_COVERAGE)	8	0.00159744	0.0	0.0	5008	,	,		21668	0.0		0.008	False		,,,				2504	0.0						uc010uar.1		NA																	0					NA						c.(280-282)ATCfs		SubName: Full=cDNA FLJ59069, weakly similar to Golgin subfamily A member 6;																																						0							g.chr15:29090935_29090936insT	AK302238		15q13.1	2012-10-05	2011-04-15	2010-04-20	ENSG00000261649	ENSG00000261649			37442	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 6-like 7 (pseudogene)"""	GOLGA6L7			Standard	NR_047567		Approved		uc010uar.2		OTTHUMG00000176345		15.37:g.29090937_29090937dupT							p.I94fs							5	409_410	-									Frame_Shift_Ins	INS	ENST00000569815.1	37	c.280_281insA																																																																																					0.505	GOLGA6L7P-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000431796.1	XR_078490		10	3	NA	NA	NA	NA	NA	10	3	---	---	---	---
ITGA4	3676	broad.mit.edu	37	2	182359493	182359495	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	ACA	ACA	-	-	ACA	ACA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr2:182359493_182359495delACA	ENST00000397033.2	+	12	1723_1725	c.1293_1295delACA	c.(1291-1296)ggacag>ggg	p.Q432del		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	432					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GTATGTTTGGACAGTCTATATCA	0.31																																							uc002unu.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(1291-1296)GGACAG>GGG		integrin alpha 4 precursor	Natalizumab(DB00108)																																			SO:0001651	inframe_deletion	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182359493_182359495delACA		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1293_1295delACA	2.37:g.182359493_182359495delACA	ENSP00000380227:p.Gln432del						p.Q432del	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		12	2056_2058	+			432			FG-GAP 7.|Extracellular (Potential).		D3DPG4|Q7Z4L6	In_Frame_Del	DEL	ENST00000397033.2	37	c.1293_1295delACA	CCDS42788.1																																																																																				0.310	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			16	151	NA	NA	NA	NA	NA	16	151	---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11110989	11110991	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	TTC	TTC	-	-	TTC	TTC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr5:11110989_11110991delTTC	ENST00000304623.8	-	14	2631_2633	c.2442_2444delGAA	c.(2440-2445)aagaaa>aaa	p.814_815KK>K	CTNND2_ENST00000503622.1_In_Frame_Del_p.477_478KK>K|CTNND2_ENST00000511377.1_In_Frame_Del_p.723_724KK>K|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_In_Frame_Del_p.814_815KK>K|CTNND2_ENST00000458100.2_In_Frame_Del_p.381_382KK>K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	814	Poly-Lys.				cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGATTTCTTTTTCTTCTTCTTCT	0.502																																							uc003jfa.1		NA																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(2440-2445)AAGAAA>AAA		catenin (cadherin-associated protein), delta 2																																				SO:0001651	inframe_deletion	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11110989_11110991delTTC	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2442_2444delGAA	5.37:g.11110998_11111000delTTC	ENSP00000307134:p.Lys817del					CTNND2_uc010itt.2_In_Frame_Del_p.723_724KK>K|CTNND2_uc011cmy.1_In_Frame_Del_p.477_478KK>K|CTNND2_uc011cmz.1_In_Frame_Del_p.381_382KK>K|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_In_Frame_Del_p.381_382KK>K	p.814_815KK>K	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			14	2587_2589	-			814_815			Poly-Lys.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	In_Frame_Del	DEL	ENST00000304623.8	37	c.2442_2444delGAA	CCDS3881.1																																																																																				0.502	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		9	670	NA	NA	NA	NA	NA	9	670	---	---	---	---
SUN1	23353	broad.mit.edu	37	7	893192	893192	+	Frame_Shift_Del	DEL	G	G	-			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr7:893192delG	ENST00000405266.1	+	11	1335	c.1311delG	c.(1309-1311)atgfs	p.M437fs	SUN1_ENST00000425407.2_Frame_Shift_Del_p.M317fs|SUN1_ENST00000401592.1_Frame_Shift_Del_p.M400fs|SUN1_ENST00000413514.2_Frame_Shift_Del_p.M209fs|SUN1_ENST00000389574.3_Frame_Shift_Del_p.M317fs|SUN1_ENST00000456758.2_Frame_Shift_Del_p.M589fs|SUN1_ENST00000452783.2_Frame_Shift_Del_p.M297fs			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	427					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGGACCAGATGGAAGGCGGCG	0.647																																							uc011jvp.1		NA																	0					0						c.(1198-1200)ATGfs		unc-84 homolog A isoform a							37.0	41.0	40.0					7																	893192		2009	4173	6182	SO:0001589	frameshift_variant	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:893192delG	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.1311delG	7.37:g.893192delG	ENSP00000384116:p.Met437fs					GET4_uc003sjj.1_RNA|SUN1_uc003sjf.2_Frame_Shift_Del_p.M317fs|SUN1_uc011jvq.1_Frame_Shift_Del_p.M297fs|SUN1_uc003sjg.2_Frame_Shift_Del_p.M305fs|SUN1_uc011jvr.1_Frame_Shift_Del_p.M209fs|SUN1_uc003sji.2_Frame_Shift_Del_p.M238fs|SUN1_uc003sjk.2_Frame_Shift_Del_p.M39fs	p.M400fs	NM_001130965	NP_001124437	O94901	SUN1_HUMAN			11	1279	+			427			Perinuclear space.|Potential.		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Frame_Shift_Del	DEL	ENST00000405266.1	37	c.1200delG																																																																																					0.647	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154		12	76	NA	NA	NA	NA	NA	12	76	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48547627	48547627	+	Frame_Shift_Del	DEL	A	A	-			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr7:48547627delA	ENST00000435803.1	+	50	13530	c.13506delA	c.(13504-13506)acafs	p.T4502fs	ABCA13_ENST00000544596.1_Frame_Shift_Del_p.T232fs	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4502					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACTGGTTCACAAACTTCCTAT	0.493																																							uc003toq.2		NA																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(13504-13506)ACAfs		ATP binding cassette, sub-family A (ABC1),							80.0	82.0	82.0					7																	48547627		2036	4191	6227	SO:0001589	frameshift_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48547627delA	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.13506delA	7.37:g.48547627delA	ENSP00000411096:p.Thr4502fs					ABCA13_uc010kys.1_Frame_Shift_Del_p.T1577fs|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Frame_Shift_Del_p.T232fs	p.T4502fs	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			50	13531	+			4502					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Frame_Shift_Del	DEL	ENST00000435803.1	37	c.13506delA	CCDS47584.1																																																																																				0.493	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		7	46	NA	NA	NA	NA	NA	7	46	---	---	---	---
OFD1	8481	broad.mit.edu	37	X	13764945	13764946	+	Frame_Shift_Ins	INS	-	-	A	rs312262845|rs312262846|rs312262847|rs312262848		TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chrX:13764945_13764946insA	ENST00000340096.6	+	8	1028_1029	c.701_702insA	c.(700-705)gcaaaafs	p.AK234fs	OFD1_ENST00000398395.3_Frame_Shift_Ins_p.AK234fs|OFD1_ENST00000380567.1_Frame_Shift_Ins_p.AK94fs|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Frame_Shift_Ins_p.AK234fs	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	234					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AAAATGGAAGCAAAAAAAAAGT	0.302																																							uc004cvp.3		NA																	0					0						c.(700-702)GCAfs		oral-facial-digital syndrome 1																																				SO:0001589	frameshift_variant	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13764945_13764946insA	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.710dupA	X.37:g.13764954_13764954dupA	ENSP00000344314:p.Ala234fs					OFD1_uc004cvr.3_5'UTR|OFD1_uc011mil.1_5'UTR|OFD1_uc004cvq.3_Frame_Shift_Ins_p.A94fs|OFD1_uc010nen.2_Frame_Shift_Ins_p.A233fs|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Frame_Shift_Ins_p.A233fs|OFD1_uc004cvv.3_Frame_Shift_Ins_p.A233fs|OFD1_uc010neo.1_Frame_Shift_Ins_p.A20fs	p.A234fs	NM_003611	NP_003602	O75665	OFD1_HUMAN			8	1060_1061	+			234			Potential.		B9ZVU5|O75666|Q4VAK4	Frame_Shift_Ins	INS	ENST00000340096.6	37	c.701_702insA	CCDS14157.1																																																																																				0.302	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		11	37	NA	NA	NA	NA	NA	11	37	---	---	---	---
