#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
CDC42	998	broad.mit.edu	37	1	22413237	22413237	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr1:22413237G>A	ENST00000344548.3	+	6	615	c.364G>A	c.(364-366)Gac>Aac	p.D122N	CDC42_ENST00000315554.8_Missense_Mutation_p.D122N|CDC42_ENST00000400259.1_Missense_Mutation_p.D122N|CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000421089.2_Missense_Mutation_p.D164N	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	122					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cellular protein localization (GO:0034613)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell-cell adhesion (GO:0090136)|epithelial-mesenchymal cell signaling (GO:0060684)|establishment of Golgi localization (GO:0051683)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|keratinization (GO:0031424)|keratinocyte development (GO:0003334)|macrophage differentiation (GO:0030225)|multicellular organism growth (GO:0035264)|muscle cell differentiation (GO:0042692)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of gene expression (GO:0010629)|negative regulation of protein complex assembly (GO:0031333)|neuron fate determination (GO:0048664)|nuclear migration (GO:0007097)|nucleus localization (GO:0051647)|organelle transport along microtubule (GO:0072384)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of JNK cascade (GO:0046330)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of synapse structural plasticity (GO:0051835)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of filopodium assembly (GO:0051489)|regulation of mitosis (GO:0007088)|regulation of protein catabolic process (GO:0042176)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein kinase activity (GO:0045859)|regulation of protein stability (GO:0031647)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|sprouting angiogenesis (GO:0002040)|submandibular salivary gland formation (GO:0060661)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	apical part of cell (GO:0045177)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|spindle midzone (GO:0051233)	apolipoprotein A-I receptor binding (GO:0034191)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)	p.D122N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		TCTCAGAGATGACCCCTCTAC	0.433																																							uc001bfq.2		NA																	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(1)	1						c.(364-366)GAC>AAC		cell division cycle 42 isoform 1							166.0	178.0	174.0					1																	22413237		2203	4300	6503	SO:0001583	missense	998				actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding	g.chr1:22413237G>A	BC018266	CCDS221.1, CCDS222.1	1p36.1	2013-01-17	2013-01-17		ENSG00000070831	ENSG00000070831			1736	protein-coding gene	gene with protein product	"""GTP binding protein, 25kDa"""	116952	"""cell division cycle 42 (GTP-binding protein, 25kD)"", ""cell division cycle 42 (GTP binding protein, 25kDa)"""			2124704, 2122236	Standard	NM_001039802		Approved	G25K, CDC42Hs	uc001bfr.3	P60953	OTTHUMG00000002753	ENST00000344548.3:c.364G>A	1.37:g.22413237G>A	ENSP00000341072:p.Asp122Asn					CDC42_uc009vqg.1_Missense_Mutation_p.D122N|CDC42_uc001bfp.2_Missense_Mutation_p.D122N|CDC42_uc001bfr.2_Missense_Mutation_p.D122N|CDC42_uc010odr.1_Missense_Mutation_p.D167N|CDC42_uc010ods.1_Missense_Mutation_p.D164N|CDC42_uc009vqh.2_Missense_Mutation_p.D81N	p.D122N	NM_001039802	NP_001034891	P60953	CDC42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)	6	656	+		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)	122					P21181|P25763|Q7L8R5|Q9UDI2	Missense_Mutation	SNP	ENST00000344548.3	37	c.364G>A	CCDS221.1	.	.	.	.	.	.	.	.	.	.	g	21.9	4.217879	0.79352	.	.	ENSG00000070831	ENST00000400259;ENST00000344548;ENST00000315554;ENST00000421089;ENST00000411827	T;T;T;T;T	0.76578	-0.48;-0.48;-0.48;-0.48;-1.03	5.72	5.72	0.89469	Small GTP-binding protein domain (1);	0.128705	0.64402	D	0.000001	T	0.79604	0.4474	M	0.67700	2.07	0.80722	D	1	B;B;B;B;B	0.23806	0.08;0.091;0.08;0.003;0.003	B;B;B;B;B	0.28991	0.056;0.097;0.056;0.037;0.006	T	0.76683	-0.2869	10	0.72032	D	0.01	.	18.8134	0.92068	0.0:0.0:1.0:0.0	.	164;167;164;122;122	E7ETU3;B4E1U9;B4DMH5;P60953;P60953-1	.;.;.;CDC42_HUMAN;.	N	122;122;122;164;122	ENSP00000383118:D122N;ENSP00000341072:D122N;ENSP00000314458:D122N;ENSP00000398592:D164N;ENSP00000398327:D122N	ENSP00000314458:D122N	D	+	1	0	CDC42	22285824	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.182000	0.94881	2.850000	0.98022	0.650000	0.86243	GAC		0.433	CDC42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007787.1	NM_001791		28	161	0	0	0	0.004656	0	28	161				
GNL2	29889	broad.mit.edu	37	1	38033912	38033912	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr1:38033912G>T	ENST00000373062.3	-	14	2013	c.1915C>A	c.(1915-1917)Caa>Aaa	p.Q639K	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	639					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.Q639K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				GTTTTTCTTTGTTCTTCAGGT	0.343																																							uc001cbk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1915-1917)CAA>AAA		guanine nucleotide binding protein-like 2							212.0	195.0	201.0					1																	38033912		2202	4300	6502	SO:0001583	missense	29889				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	g.chr1:38033912G>T	L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.1915C>A	1.37:g.38033912G>T	ENSP00000362153:p.Gln639Lys						p.Q639K	NM_013285	NP_037417	Q13823	NOG2_HUMAN			14	2078	-		Myeloproliferative disorder(586;0.0393)	639					Q9BWN7	Missense_Mutation	SNP	ENST00000373062.3	37	c.1915C>A	CCDS421.1	.	.	.	.	.	.	.	.	.	.	G	3.187	-0.166748	0.06461	.	.	ENSG00000134697	ENST00000373062	T	0.20332	2.08	6.03	5.1	0.69264	.	0.329597	0.34555	N	0.003868	T	0.08223	0.0205	N	0.02225	-0.63	0.25433	N	0.988162	B	0.02656	0.0	B	0.01281	0.0	T	0.24905	-1.0147	10	0.02654	T	1	-2.0374	15.3466	0.74343	0.0:0.2912:0.7088:0.0	.	639	Q13823	NOG2_HUMAN	K	639	ENSP00000362153:Q639K	ENSP00000362153:Q639K	Q	-	1	0	GNL2	37806499	0.996000	0.38824	0.934000	0.37439	0.864000	0.49448	2.468000	0.45102	1.517000	0.48917	0.655000	0.94253	CAA		0.343	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285		17	44	1	0	0.00152264	0.010504	0.00166765	17	44				
PTPRF	5792	broad.mit.edu	37	1	44086229	44086229	+	Silent	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr1:44086229G>A	ENST00000359947.4	+	31	5683	c.5343G>A	c.(5341-5343)gaG>gaA	p.E1781E	PTPRF_ENST00000372414.3_Silent_p.E1781E|PTPRF_ENST00000372413.3_Silent_p.E1772E|PTPRF_ENST00000438120.1_Silent_p.E1772E|PTPRF_ENST00000422171.2_Silent_p.E1140E|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1781	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E1771E(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCCTGCGTGAGTTCAAGGTCA	0.562																																							uc001cjr.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(5341-5343)GAG>GAA		protein tyrosine phosphatase, receptor type, F							198.0	163.0	175.0					1																	44086229		2203	4300	6503	SO:0001819	synonymous_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44086229G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.5343G>A	1.37:g.44086229G>A						PTPRF_uc001cjs.2_Silent_p.E1772E|PTPRF_uc001cju.2_Silent_p.E1170E|PTPRF_uc009vwt.2_Silent_p.E1341E|PTPRF_uc001cjv.2_Silent_p.E1252E|PTPRF_uc001cjw.2_Silent_p.E1007E	p.E1781E	NM_002840	NP_002831	P10586	PTPRF_HUMAN			31	5683	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1781			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	c.5343G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.747|6.747	0.506571|0.506571	0.12883|0.12883	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000412568;ENST00000414879	.|.	.|.	.|.	5.21|5.21	2.25|2.25	0.28309|0.28309	.|.	.|.	.|.	.|.	.|.	T|T	0.59569|0.59569	0.2203|0.2203	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.53690|0.53690	-0.8403|-0.8403	4|4	.|.	.|.	.|.	.|.	10.5492|10.5492	0.45079|0.45079	0.2184:0.0:0.7816:0.0|0.2184:0.0:0.7816:0.0	.|.	.|.	.|.	.|.	N|I	1427|1165;1206	.|.	.|.	S|V	+|+	2|1	0|0	PTPRF|PTPRF	43858816|43858816	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.444000|1.444000	0.35068|0.35068	0.389000|0.389000	0.25086|0.25086	0.563000|0.563000	0.77884|0.77884	AGT|GTT		0.562	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			33	81	0	0	0	0.006999	0	33	81				
PKN2	5586	broad.mit.edu	37	1	89250394	89250394	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr1:89250394C>T	ENST00000370521.3	+	7	1417	c.1058C>T	c.(1057-1059)tCa>tTa	p.S353L	PKN2_ENST00000370505.3_Missense_Mutation_p.S196L|PKN2_ENST00000316005.7_Missense_Mutation_p.S353L|PKN2_ENST00000544045.1_Missense_Mutation_p.S27L|PKN2_ENST00000370513.5_Missense_Mutation_p.S353L	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	353	C2.				apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.S353L(2)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		AAAGCAACATCAGTTGCACTG	0.423																																							uc001dmn.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|lung(1)|skin(1)	3						c.(1057-1059)TCA>TTA		protein kinase N2							97.0	94.0	95.0					1																	89250394		1903	4122	6025	SO:0001583	missense	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89250394C>T	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.1058C>T	1.37:g.89250394C>T	ENSP00000359552:p.Ser353Leu					PKN2_uc001dmm.1_Missense_Mutation_p.S353L|PKN2_uc010osp.1_Missense_Mutation_p.S353L|PKN2_uc010osq.1_Missense_Mutation_p.S196L|PKN2_uc009wcv.2_Missense_Mutation_p.S353L|PKN2_uc010osr.1_Missense_Mutation_p.S18L	p.S353L	NM_006256	NP_006247	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	7	1400	+		Lung NSC(277;0.123)	353			C2.		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	c.1058C>T	CCDS714.1	.	.	.	.	.	.	.	.	.	.	C	34	5.324670	0.95708	.	.	ENSG00000065243	ENST00000370521;ENST00000316005;ENST00000370505;ENST00000370513;ENST00000544045	T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96	5.57	5.57	0.84162	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.38720	U	0.001596	T	0.45256	0.1333	M	0.79805	2.47	0.80722	D	1	P;P;D;D	0.76494	0.655;0.695;0.999;0.999	B;B;D;D	0.78314	0.15;0.212;0.991;0.915	T	0.42632	-0.9440	10	0.62326	D	0.03	.	19.918	0.97070	0.0:1.0:0.0:0.0	.	353;353;353;353	B4DTP5;E7ESL7;Q16513;B1AL79	.;.;PKN2_HUMAN;.	L	353;353;196;353;27	ENSP00000359552:S353L;ENSP00000317851:S353L;ENSP00000359536:S196L;ENSP00000359544:S353L;ENSP00000439643:S27L	ENSP00000317851:S353L	S	+	2	0	PKN2	89022982	1.000000	0.71417	0.935000	0.37517	0.984000	0.73092	7.445000	0.80570	2.785000	0.95823	0.591000	0.81541	TCA		0.423	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		4	70	0	0	0	0.009096	0	4	70				
VTCN1	79679	broad.mit.edu	37	1	117695862	117695862	+	Missense_Mutation	SNP	G	G	A	rs145818315	byFrequency	TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr1:117695862G>A	ENST00000369458.3	-	4	653	c.575C>T	c.(574-576)tCg>tTg	p.S192L	VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000539893.1_Missense_Mutation_p.S97L|VTCN1_ENST00000359008.4_Missense_Mutation_p.S195L|VTCN1_ENST00000328189.3_Missense_Mutation_p.S76L	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1									p.S192L(1)		large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		GGAGACTTCCGAGAAGTTGGC	0.517													G|||	2	0.000399361	0.0	0.0029	5008	,	,		17382	0.0		0.0	False		,,,				2504	0.0						uc001ehb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(574-576)TCG>TTG		V-set domain containing T cell activation		G	LEU/SER	2,4404	4.2+/-10.8	0,2,2201	110.0	103.0	105.0		575	4.4	1.0	1	dbSNP_134	105	36,8564	23.4+/-69.3	0,36,4264	yes	missense	VTCN1	NM_024626.2	145	0,38,6465	AA,AG,GG		0.4186,0.0454,0.2922	possibly-damaging	192/283	117695862	38,12968	2203	4300	6503	SO:0001583	missense	79679					integral to membrane|plasma membrane		g.chr1:117695862G>A	BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28873	protein-coding gene	gene with protein product	"""B7 family member, H4"", ""B7 superfamily member 1"""	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.575C>T	1.37:g.117695862G>A	ENSP00000358470:p.Ser192Leu					VTCN1_uc001ehc.2_Missense_Mutation_p.S97L|VTCN1_uc009whf.1_Missense_Mutation_p.S76L	p.S192L	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)	4	647	-	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)	192			Extracellular (Potential).|Ig-like V-type 2.			Missense_Mutation	SNP	ENST00000369458.3	37	c.575C>T	CCDS894.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	15.00	2.702673	0.48307	4.54E-4	0.004186	ENSG00000134258	ENST00000369458;ENST00000359008;ENST00000328189;ENST00000539893	T;T;T;T	0.24723	3.25;3.24;1.84;4.03	5.34	4.43	0.53597	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.242590	0.29522	N	0.011901	T	0.04770	0.0129	N	0.03608	-0.345	0.32393	N	0.553039	B;B	0.17465	0.022;0.001	B;B	0.12156	0.007;0.001	T	0.20338	-1.0278	10	0.40728	T	0.16	-15.8502	12.121	0.53891	0.0791:0.0:0.9209:0.0	.	76;192	Q7Z7D3-2;Q7Z7D3	.;VTCN1_HUMAN	L	192;195;76;97	ENSP00000358470:S192L;ENSP00000351899:S195L;ENSP00000328168:S76L;ENSP00000444724:S97L	ENSP00000328168:S76L	S	-	2	0	VTCN1	117497385	0.996000	0.38824	0.991000	0.47740	0.864000	0.49448	3.118000	0.50414	1.623000	0.50342	0.650000	0.86243	TCG		0.517	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000033500.2	NM_024626		5	93	0	0	0	0.014758	0	5	93				
CD244	51744	broad.mit.edu	37	1	160808748	160808748	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr1:160808748C>G	ENST00000368033.3	-	4	844	c.762G>C	c.(760-762)aaG>aaC	p.K254N	CD244_ENST00000368034.4_Missense_Mutation_p.K249N|CD244_ENST00000481677.1_5'UTR|CD244_ENST00000322302.7_Missense_Mutation_p.K157N|CD244_ENST00000368032.2_Missense_Mutation_p.K249N			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	254					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.K254N(1)|p.K249N(1)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCTCCTTCCTCTTTCTCCTCC	0.522																																							uc009wtq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(760-762)AAG>AAC		CD244 natural killer cell receptor 2B4							162.0	110.0	128.0					1																	160808748		2203	4300	6503	SO:0001583	missense	51744				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	g.chr1:160808748C>G	AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18171	protein-coding gene	gene with protein product		605554	"""natural killer cell receptor 2B4"", ""CD244 natural killer cell receptor 2B4"""			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.762G>C	1.37:g.160808748C>G	ENSP00000357012:p.Lys254Asn					CD244_uc001fxa.2_Missense_Mutation_p.K249N|CD244_uc009wtp.2_RNA|CD244_uc009wtr.2_Missense_Mutation_p.K157N|CD244_uc010pjt.1_RNA	p.K254N	NM_016382	NP_057466	Q9BZW8	CD244_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		4	940	-	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		254			Cytoplasmic (Potential).		Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Missense_Mutation	SNP	ENST00000368033.3	37	c.762G>C	CCDS53399.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731538	0.30684	.	.	ENSG00000122223	ENST00000368034;ENST00000368033;ENST00000322302;ENST00000368032	T;T;T;T	0.46819	1.17;1.17;0.86;1.17	4.23	3.22	0.36961	.	0.752050	0.11418	N	0.566098	T	0.40448	0.1117	L	0.34521	1.04	0.32277	N	0.568139	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.75020	0.985;0.973;0.981	T	0.31052	-0.9957	10	0.87932	D	0	-17.2031	6.874	0.24137	0.0:0.8526:0.0:0.1474	.	157;254;249	Q9BZW8-4;Q9BZW8;Q9BZW8-2	.;CD244_HUMAN;.	N	249;254;157;249	ENSP00000357013:K249N;ENSP00000357012:K254N;ENSP00000313619:K157N;ENSP00000357011:K249N	ENSP00000313619:K157N	K	-	3	2	CD244	159075372	0.352000	0.24895	0.778000	0.31720	0.222000	0.24845	0.560000	0.23500	0.981000	0.38548	0.561000	0.74099	AAG		0.522	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071469.1	NM_016382		10	32	0	0	0	0.008291	0	10	32				
ITIH5	80760	broad.mit.edu	37	10	7621881	7621881	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr10:7621881T>A	ENST00000256861.6	-	9	1333	c.1255A>T	c.(1255-1257)Atc>Ttc	p.I419F	ITIH5_ENST00000298441.6_Missense_Mutation_p.I205F|ITIH5_ENST00000397145.2_Missense_Mutation_p.I419F|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Missense_Mutation_p.I201F|ITIH5_ENST00000397146.2_Missense_Mutation_p.I419F	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	419	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.I419F(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTGTTGAGGATCTTGAGGGTG	0.607																																							uc001ijq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)	4						c.(1255-1257)ATC>TTC		inter-alpha trypsin inhibitor heavy chain							138.0	124.0	129.0					10																	7621881		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7621881T>A			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1255A>T	10.37:g.7621881T>A	ENSP00000256861:p.Ile419Phe					ITIH5_uc001ijp.2_Missense_Mutation_p.I205F|ITIH5_uc001ijr.1_Missense_Mutation_p.I419F	p.I419F	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			9	1334	-			419			VWFA.		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.1255A>T		.	.	.	.	.	.	.	.	.	.	T	26.4	4.731044	0.89390	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	5.2	5.2	0.72013	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.89743	0.6803	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.996	D;D;D	0.91635	0.999;0.946;0.91	D	0.91275	0.5047	9	0.87932	D	0	-25.3258	15.0399	0.71781	0.0:0.0:0.0:1.0	.	419;419;205	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	F	419;419;205;201;419	ENSP00000256861:I419F;ENSP00000380333:I419F;ENSP00000298441:I205F;ENSP00000387969:I201F;ENSP00000380332:I419F	ENSP00000256861:I419F	I	-	1	0	ITIH5	7661887	1.000000	0.71417	0.422000	0.26621	0.869000	0.49853	7.436000	0.80404	1.960000	0.56953	0.379000	0.24179	ATC		0.607	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		4	39	0	0	0	0.009096	0	4	39				
CCDC7	79741	broad.mit.edu	37	10	32983870	32983870	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr10:32983870A>G	ENST00000375030.2	+	9	971	c.353A>G	c.(352-354)gAa>gGa	p.E118G	C10orf68_ENST00000375025.4_Missense_Mutation_p.E110G|C10orf68_ENST00000375028.3_Intron			Q9H943	CJ068_HUMAN		110								p.E110G(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TCAAAACTGGAAATGCAAATT	0.289																																							uc001iwn.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(328-330)GAA>GGA		chromosome 10 open reading frame 68							46.0	45.0	45.0					10																	32983870		2202	4299	6501	SO:0001583	missense	79741							g.chr10:32983870A>G																												ENST00000375030.2:c.353A>G	10.37:g.32983870A>G	ENSP00000364170:p.Glu118Gly					C10orf68_uc001iwl.1_Missense_Mutation_p.E118G|C10orf68_uc001iwm.1_Intron|C10orf68_uc010qei.1_Missense_Mutation_p.E37G	p.E110G	NM_024688	NP_078964	Q9H943	CJ068_HUMAN			6	802	+			110					B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	ENST00000375030.2	37	c.329A>G		.	.	.	.	.	.	.	.	.	.	.	12.65	2.000368	0.35320	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375025	T;T;T	0.32272	1.5;1.46;1.48	2.91	1.73	0.24493	.	.	.	.	.	T	0.33556	0.0867	L	0.44542	1.39	0.09310	N	1	D;D;D	0.54964	0.969;0.969;0.969	P;P;P	0.52758	0.708;0.708;0.708	T	0.11767	-1.0574	9	0.66056	D	0.02	.	6.0704	0.19885	0.7339:0.2661:0.0:0.0	.	42;110;118	B4DX58;Q9H943;A2A3D6	.;CJ068_HUMAN;.	G	110;118;110	ENSP00000303710:E110G;ENSP00000364170:E118G;ENSP00000364165:E110G	ENSP00000303710:E110G	E	+	2	0	C10orf68	33023876	0.001000	0.12720	0.001000	0.08648	0.021000	0.10359	0.247000	0.18179	0.477000	0.27464	0.383000	0.25322	GAA		0.289	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2			3	28	0	0	0	0.004672	0	3	28				
ANK3	288	broad.mit.edu	37	10	61946480	61946480	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr10:61946480C>A	ENST00000280772.2	-	17	2269	c.2078G>T	c.(2077-2079)aGc>aTc	p.S693I	ANK3_ENST00000373827.2_Missense_Mutation_p.S687I|ANK3_ENST00000503366.1_Missense_Mutation_p.S676I	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	693					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.S693I(1)|p.S354I(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TACCTTATTGCTCAGGTTCAC	0.493																																							uc001jky.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(2077-2079)AGC>ATC		ankyrin 3 isoform 1							190.0	137.0	155.0					10																	61946480		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61946480C>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.2078G>T	10.37:g.61946480C>A	ENSP00000280772:p.Ser693Ile					ANK3_uc010qih.1_Missense_Mutation_p.S676I|ANK3_uc001jkz.3_Missense_Mutation_p.S687I|ANK3_uc001jlb.1_Missense_Mutation_p.S222I|ANK3_uc001jlc.1_Missense_Mutation_p.S354I	p.S693I	NM_020987	NP_066267	Q12955	ANK3_HUMAN			17	2270	-			693					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.2078G>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528398	0.85706	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000395293;ENST00000536348	T;T;T	0.15952	2.38;2.38;2.38	6.17	6.17	0.99709	Ankyrin repeat-containing domain (4);	0.000000	0.50627	D	0.000113	T	0.28732	0.0712	N	0.25789	0.76	0.80722	D	1	B;P;P;P;D	0.60575	0.014;0.622;0.924;0.908;0.988	B;B;P;P;P	0.57468	0.034;0.374;0.694;0.821;0.739	T	0.00595	-1.1653	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	676;354;237;687;693	E9PE32;E7EMJ1;Q59G01;Q5CZH9;Q12955	.;.;.;.;ANK3_HUMAN	I	693;687;676;655;354;237	ENSP00000280772:S693I;ENSP00000362933:S687I;ENSP00000425236:S676I	ENSP00000280772:S693I	S	-	2	0	ANK3	61616486	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.885000	0.63142	2.941000	0.99782	0.655000	0.94253	AGC		0.493	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		4	19	1	0	0.00024832	0.009096	0.000276356	4	19				
Unknown	0	broad.mit.edu	37	10	135491125	135491125	+	IGR	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr10:135491125G>A								AL845259.1 (17946 upstream) : None (None downstream)																							CCACACCGGCGCGTGGGGAAC	0.781																																							uc010qvi.1		NA																	0					0						c.(736-738)GCG>ACG		double homeobox, 4-like																																				SO:0001628	intergenic_variant	653544					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:135491125G>A																													10.37:g.135491125G>A							p.A246T	NM_001127389	NP_001120861	F5GZ66	F5GZ66_HUMAN			1	847	+			246						Missense_Mutation	SNP		37	c.736G>A																																																																																				0	0.781									3	21	0	0	0	0.001168	0	3	21				
ART1	417	broad.mit.edu	37	11	3681250	3681250	+	Silent	SNP	C	C	T	rs147920431	byFrequency	TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr11:3681250C>T	ENST00000250693.1	+	3	602	c.501C>T	c.(499-501)agC>agT	p.S167S		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	167					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.S167S(1)		endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		TCCTGGGCAGCGGCCAGCGTC	0.706																																							uc001lye.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(499-501)AGC>AGT		ADP-ribosyltransferase 1 precursor	Becaplermin(DB00102)	C		1,4401	2.1+/-5.4	0,1,2200	30.0	32.0	31.0		501	-1.1	0.0	11	dbSNP_134	31	2,8594	2.2+/-6.3	0,2,4296	no	coding-synonymous	ART1	NM_004314.2		0,3,6496	TT,TC,CC		0.0233,0.0227,0.0231		167/328	3681250	3,12995	2201	4298	6499	SO:0001819	synonymous_variant	417				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	g.chr11:3681250C>T	S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"""CD molecules"""	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.501C>T	11.37:g.3681250C>T						ART1_uc009yeb.1_Silent_p.S167S	p.S167S	NM_004314	NP_004305	P52961	NAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	3	602	+		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	167					Q6NTD2|Q96KT9	Silent	SNP	ENST00000250693.1	37	c.501C>T	CCDS7744.1																																																																																				0.706	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032765.1	NM_004314		4	51	0	0	0	0.009096	0	4	51				
OR51A7	119687	broad.mit.edu	37	11	4929450	4929450	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr11:4929450C>T	ENST00000359350.4	+	1	851	c.851C>T	c.(850-852)cCc>cTc	p.P284L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P284L(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGTGCCGCCCCTTATGAAC	0.453																																							uc010qyq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(850-852)CCC>CTC		olfactory receptor, family 51, subfamily A,							157.0	149.0	152.0					11																	4929450		2201	4298	6499	SO:0001583	missense	119687				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4929450C>T	AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"""GPCR / Class A : Olfactory receptors"""	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.851C>T	11.37:g.4929450C>T	ENSP00000352305:p.Pro284Leu						p.P284L	NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	851	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	284			Helical; Name=7; (Potential).		Q6IFH8	Missense_Mutation	SNP	ENST00000359350.4	37	c.851C>T	CCDS31364.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.506139	0.44558	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.72505	-0.66	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.144349	0.32372	N	0.006196	D	0.87755	0.6257	H	0.97516	4.02	0.36065	D	0.841705	B	0.32604	0.377	P	0.47827	0.558	D	0.92409	0.5936	10	0.87932	D	0	.	17.069	0.86568	0.0:1.0:0.0:0.0	.	284	Q8NH64	O51A7_HUMAN	L	284;284;273	ENSP00000352305:P284L	ENSP00000352305:P284L	P	+	2	0	OR51A7	4886026	0.126000	0.22350	0.175000	0.22980	0.003000	0.03518	4.088000	0.57678	2.596000	0.87737	0.655000	0.94253	CCC		0.453	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	NM_001004749		28	77	0	0	0	0.012213	0	28	77				
OR2D3	120775	broad.mit.edu	37	11	6942529	6942529	+	Silent	SNP	T	T	C			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr11:6942529T>C	ENST00000317834.3	+	1	325	c.297T>C	c.(295-297)gtT>gtC	p.V99V		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V99V(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAGTGTTGGTTCACTTCTTGG	0.423																																							uc010rav.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(295-297)GTT>GTC		olfactory receptor, family 2, subfamily D,							129.0	133.0	132.0					11																	6942529		2201	4296	6497	SO:0001819	synonymous_variant	120775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6942529T>C	BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"""GPCR / Class A : Olfactory receptors"""	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.297T>C	11.37:g.6942529T>C							p.V99V	NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	297	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	99			Extracellular (Potential).		B2RP06|Q6IFG8|Q96R51	Silent	SNP	ENST00000317834.3	37	c.297T>C	CCDS31417.1																																																																																				0.423	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684		60	107	0	0	0	0.01441	0	60	107				
OR5AS1	219447	broad.mit.edu	37	11	55798207	55798207	+	Missense_Mutation	SNP	G	G	A	rs370300707		TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr11:55798207G>A	ENST00000313555.1	+	1	313	c.313G>A	c.(313-315)Gct>Act	p.A105T		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A105T(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GTTTTTCTTCGCTTCTTTTGC	0.463																																							uc010riw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|liver(1)|skin(1)	5						c.(313-315)GCT>ACT		olfactory receptor, family 5, subfamily AS,		G	THR/ALA	1,4401	2.1+/-5.4	0,1,2200	104.0	89.0	94.0		313	4.5	1.0	11		94	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR5AS1	NM_001001921.1	58	0,2,6495	AA,AG,GG		0.0116,0.0227,0.0154	benign	105/325	55798207	2,12992	2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798207G>A	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.313G>A	11.37:g.55798207G>A	ENSP00000324111:p.Ala105Thr						p.A105T	NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN			1	313	+	Esophageal squamous(21;0.00693)		105			Helical; Name=3; (Potential).		Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.313G>A	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.203770	0.38905	2.27E-4	1.16E-4	ENSG00000181785	ENST00000313555	T	0.00570	6.51	5.46	4.54	0.55810	GPCR, rhodopsin-like superfamily (1);	0.228496	0.22097	U	0.064673	T	0.00328	0.0010	N	0.12471	0.22	0.09310	N	1	P	0.42161	0.772	B	0.30943	0.122	T	0.59144	-0.7509	10	0.49607	T	0.09	.	10.8719	0.46887	0.0:0.1412:0.7125:0.1463	.	105	Q8N127	O5AS1_HUMAN	T	105	ENSP00000324111:A105T	ENSP00000324111:A105T	A	+	1	0	OR5AS1	55554783	0.000000	0.05858	0.977000	0.42913	0.931000	0.56810	0.111000	0.15458	1.274000	0.44362	0.643000	0.83706	GCT		0.463	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		9	46	0	0	0	0.004482	0	9	46				
SHANK2	22941	broad.mit.edu	37	11	70331681	70331681	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr11:70331681C>G	ENST00000423696.2	-	15	3616	c.3580G>C	c.(3580-3582)Gat>Cat	p.D1194H	SHANK2_ENST00000409161.1_Missense_Mutation_p.D977H|SHANK2_ENST00000449833.2_Missense_Mutation_p.D978H|SHANK2_ENST00000338508.4_Missense_Mutation_p.D1574H			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1194					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.D978H(1)|p.D1574H(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACAAAGCTATCTACATCTTCT	0.562																																							uc001oqc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(4717-4719)GAT>CAT		SH3 and multiple ankyrin repeat domains 2							101.0	101.0	101.0					11																	70331681		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70331681C>G	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3580G>C	11.37:g.70331681C>G	ENSP00000394536:p.Asp1194His					SHANK2_uc010rqn.1_Missense_Mutation_p.D985H|SHANK2_uc001opz.2_Missense_Mutation_p.D978H|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	p.D1573H	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		21	4795	-			1194					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.4717G>C		.	.	.	.	.	.	.	.	.	.	C	19.13	3.767881	0.69878	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13	5.42	5.42	0.78866	.	0.182608	0.64402	D	0.000020	T	0.50257	0.1605	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.74348	0.948;0.983;0.983	T	0.53222	-0.8469	10	0.72032	D	0.01	.	19.2305	0.93836	0.0:1.0:0.0:0.0	.	1194;1573;978	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	H	978;977;852;1574;1194;1212;1197	ENSP00000399423:D978H;ENSP00000386491:D977H;ENSP00000402944:D852H;ENSP00000345193:D1574H;ENSP00000394536:D1194H;ENSP00000294018:D1197H	ENSP00000294018:D1197H	D	-	1	0	SHANK2	70009329	1.000000	0.71417	0.070000	0.20053	0.994000	0.84299	5.494000	0.66905	2.549000	0.85964	0.655000	0.94253	GAT		0.562	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		30	67	0	0	0	0.013726	0	30	67				
SLC6A13	6540	broad.mit.edu	37	12	346415	346415	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr12:346415C>G	ENST00000343164.4	-	6	657	c.605G>C	c.(604-606)gGg>gCg	p.G202A	SLC6A13_ENST00000445055.2_Missense_Mutation_p.G110A	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	202					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.G202A(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GCGCAGGGCCCCCAGGTGCTG	0.602																																							uc001qic.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(604-606)GGG>GCG		solute carrier family 6 (neurotransmitter							63.0	67.0	65.0					12																	346415		2203	4300	6503	SO:0001583	missense	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:346415C>G	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.605G>C	12.37:g.346415C>G	ENSP00000339260:p.Gly202Ala					SLC6A13_uc009zdj.1_Missense_Mutation_p.G202A|SLC6A13_uc010sdl.1_Missense_Mutation_p.G110A|SLC6A13_uc010sdm.1_Missense_Mutation_p.G83A	p.G202A	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		6	658	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		202			Extracellular (Potential).		B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	c.605G>C	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	C	32	5.186828	0.94923	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164;ENST00000546319	D;D;D	0.87334	-2.24;-2.24;-2.24	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.96812	0.8959	H	0.99238	4.48	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.98014	1.0367	10	0.87932	D	0	.	19.6592	0.95857	0.0:1.0:0.0:0.0	.	110;181;202	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	A	110;181;202;110	ENSP00000407104:G110A;ENSP00000339260:G202A;ENSP00000444606:G110A	ENSP00000318097:G181A	G	-	2	0	SLC6A13	216676	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.641000	0.83368	2.880000	0.98712	0.650000	0.86243	GGG		0.602	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		5	66	0	0	0	0.001168	0	5	66				
GOLGA3	2802	broad.mit.edu	37	12	133385015	133385015	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr12:133385015G>A	ENST00000450791.2	-	4	823	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	GOLGA3_ENST00000545875.1_Missense_Mutation_p.R214C|GOLGA3_ENST00000537452.1_Missense_Mutation_p.R214C|GOLGA3_ENST00000204726.3_Missense_Mutation_p.R214C|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R214C			Q08378	GOGA3_HUMAN	golgin A3	214	Golgi-targeting domain.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.R214C(2)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		ACACTGGTGCGCAGGAAGGAA	0.512																																							uc001ukz.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(640-642)CGC>TGC		Golgi autoantigen, golgin subfamily a, 3							160.0	183.0	175.0					12																	133385015		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133385015G>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.640C>T	12.37:g.133385015G>A	ENSP00000410378:p.Arg214Cys					GOLGA3_uc001ula.1_Missense_Mutation_p.R214C|GOLGA3_uc001ulb.2_Missense_Mutation_p.R214C	p.R214C	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	5	1199	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	214			Golgi-targeting domain.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.640C>T	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.871536	0.51695	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.34	4.39	0.52855	.	0.143260	0.64402	D	0.000014	T	0.52517	0.1739	M	0.68952	2.095	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.7	D;D;B	0.69824	0.966;0.942;0.16	T	0.55730	-0.8095	10	0.87932	D	0	.	15.1232	0.72460	0.0:0.0:0.8579:0.1421	.	214;214;214	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	C	214	ENSP00000204726:R214C;ENSP00000410378:R214C;ENSP00000409303:R214C;ENSP00000442143:R214C;ENSP00000442603:R214C	ENSP00000204726:R214C	R	-	1	0	GOLGA3	131895088	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.171000	0.50824	2.666000	0.90696	0.585000	0.79938	CGC		0.512	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		81	222	0	0	0	0.01441	0	81	222				
MYH7	4625	broad.mit.edu	37	14	23883310	23883310	+	Splice_Site	SNP	G	G	A	rs372381770		TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr14:23883310G>A	ENST00000355349.3	-	38	5723	c.5561C>T	c.(5560-5562)aCg>aTg	p.T1854M	CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1854			T -> M (in CMH1). {ECO:0000269|PubMed:15358028}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.T1854M(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTCCTCCTCCGTCTGGGGGCC	0.597																																							uc001wjx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4	GRCh37	CM042430	MYH7	M		c.(5560-5562)ACG>ATG		myosin, heavy chain 7, cardiac muscle, beta		G	MET/THR	0,4406		0,0,2203	48.0	45.0	46.0		5561	5.1	1.0	14		46	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	MYH7	NM_000257.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	1854/1936	23883310	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23883310G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.5560-1C>T	14.37:g.23883310G>A							p.T1854M	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	38	5667	-	all_cancers(95;2.54e-05)		1854		T -> M (in CMH1).	Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.5561C>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248018	0.80024	0.0	1.16E-4	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.77750	-1.12	5.07	5.07	0.68467	Myosin tail (1);	.	.	.	.	D	0.87229	0.6125	M	0.72624	2.21	0.80722	D	1	D	0.69078	0.997	D	0.69479	0.964	D	0.88431	0.3035	9	0.87932	D	0	.	18.2298	0.89931	0.0:0.0:1.0:0.0	.	1854	P12883	MYH7_HUMAN	M	1854;1859	ENSP00000347507:T1854M	ENSP00000347507:T1854M	T	-	2	0	MYH7	22953150	1.000000	0.71417	0.990000	0.47175	0.676000	0.39594	7.587000	0.82613	2.653000	0.90120	0.561000	0.74099	ACG		0.597	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257	Missense_Mutation	17	40	0	0	0	0.006122	0	17	40				
THBS1	7057	broad.mit.edu	37	15	39874029	39874029	+	Splice_Site	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr15:39874029G>A	ENST00000260356.5	+	2	136		c.e2-1			NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1						activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TCCTGCTACAGGATCCCTGCT	0.637											OREG0023050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001zkh.2		NA																	0				ovary(3)|central_nervous_system(3)	6						c.e2-1		thrombospondin 1 precursor	Becaplermin(DB00102)						60.0	55.0	56.0					15																	39874029		2200	4297	6497	SO:0001630	splice_region_variant	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39874029G>A		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.-29-1G>A	15.37:g.39874029G>A			OREG0023050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889			NM_003246	NP_003237	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	2	151	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)						A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Splice_Site	SNP	ENST00000260356.5	37	c.-28_splice	CCDS32194.1																																																																																				0.637	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246	Intron	4	27	0	0	0	0.009096	0	4	27				
SLC28A2	9153	broad.mit.edu	37	15	45555437	45555437	+	Silent	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr15:45555437G>A	ENST00000347644.3	+	5	506	c.441G>A	c.(439-441)acG>acA	p.T147T	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	147					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)	p.T147T(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	GGCTTTGGACGAAATGGTAAG	0.453																																					NSCLC(92;493 1501 26361 28917 47116)	NSCLC(92;493 1501 26361 28917 47116)	uc001zva.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(439-441)ACG>ACA		solute carrier family 28 (sodium-coupled							43.0	42.0	42.0					15																	45555437		2198	4298	6496	SO:0001819	synonymous_variant	9153				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	g.chr15:45555437G>A	U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"""Solute carriers"""	11002	protein-coding gene	gene with protein product		606208	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"""			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.441G>A	15.37:g.45555437G>A							p.T147T	NM_004212	NP_004203	O43868	S28A2_HUMAN		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	5	506	+		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	147					A8K7F9|O43239|Q52LZ0	Silent	SNP	ENST00000347644.3	37	c.441G>A	CCDS10121.1																																																																																				0.453	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212		16	26	0	0	0	0.006122	0	16	26				
STOML1	9399	broad.mit.edu	37	15	74281502	74281502	+	Missense_Mutation	SNP	A	A	C			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr15:74281502A>C	ENST00000316900.5	-	3	461	c.337T>G	c.(337-339)Tcc>Gcc	p.S113A	STOML1_ENST00000564777.1_Intron|STOML1_ENST00000316911.6_Intron|STOML1_ENST00000561656.1_Missense_Mutation_p.S26A|STOML1_ENST00000359750.4_Missense_Mutation_p.S113A|STOML1_ENST00000541638.1_Missense_Mutation_p.S71A	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	113						integral component of membrane (GO:0016021)		p.S113A(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CTCTGAAAGGAGTCAATGAAG	0.607																																							uc002awe.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(337-339)TCC>GCC		stomatin (EPB72)-like 1							65.0	61.0	63.0					15																	74281502		2198	4297	6495	SO:0001583	missense	9399					integral to membrane	sterol binding	g.chr15:74281502A>C	Y16522	CCDS10254.1, CCDS58381.1, CCDS58382.1, CCDS58383.1, CCDS58384.1, CCDS58385.1	15q24-q25	2008-07-18			ENSG00000067221	ENSG00000067221			14560	protein-coding gene	gene with protein product	"""stomatin-like 1"", ""stomatin (EBP72)-like 1"""	608326				9931417	Standard	NM_004809		Approved	hUNC-24, SLP-1, STORP, FLJ36370	uc002awe.4	Q9UBI4	OTTHUMG00000137608	ENST00000316900.5:c.337T>G	15.37:g.74281502A>C	ENSP00000319323:p.Ser113Ala					STOML1_uc002awf.2_Missense_Mutation_p.S113A|STOML1_uc010bje.2_Missense_Mutation_p.S113A|STOML1_uc010uld.1_Missense_Mutation_p.S71A|STOML1_uc002awh.2_Intron|STOML1_uc002awg.2_Intron|STOML1_uc002awi.2_Missense_Mutation_p.S26A	p.S113A	NM_004809	NP_004800	Q9UBI4	STML1_HUMAN			3	408	-			113			Cytoplasmic (Potential).		B3KQN0|B4DUU5|B4DXM9|E7ESC0|H3BRP3|O95675|Q4PNR4|Q6FGL8|Q8WYI7|Q9UMB9|Q9UMC0|Q9Y6H9	Missense_Mutation	SNP	ENST00000316900.5	37	c.337T>G	CCDS10254.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.360856	0.61403	.	.	ENSG00000067221	ENST00000316900;ENST00000541638;ENST00000359750	D;D;D	0.93247	-3.19;-3.19;-3.19	4.97	3.77	0.43336	.	0.307826	0.36628	N	0.002490	D	0.90765	0.7101	L	0.46670	1.46	0.30744	N	0.745832	P;P;P;P	0.49559	0.858;0.828;0.925;0.925	P;P;P;P	0.52598	0.703;0.481;0.703;0.703	D	0.86246	0.1646	10	0.27785	T	0.31	-1.8828	2.7874	0.05377	0.6306:0.0:0.1755:0.1938	.	71;113;113;113	B4DUU5;E7ESC0;Q53HB6;Q9UBI4	.;.;.;STML1_HUMAN	A	113;71;113	ENSP00000319323:S113A;ENSP00000442478:S71A;ENSP00000352788:S113A	ENSP00000319323:S113A	S	-	1	0	STOML1	72068555	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	5.691000	0.68249	1.855000	0.53841	0.383000	0.25322	TCC		0.607	STOML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269022.1	NM_004809		7	23	0	0	0	0.001984	0	7	23				
SLX4	84464	broad.mit.edu	37	16	3647557	3647557	+	Silent	SNP	T	T	C			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr16:3647557T>C	ENST00000294008.3	-	7	2146	c.1506A>G	c.(1504-1506)ccA>ccG	p.P502P		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	502	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.P502P(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TGGCAGGAAGTGGTGGCGTGC	0.567								Direct reversal of damage																															uc002cvp.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1504-1506)CCA>CCG	Direct_reversal_of_damage|Homologous_recombination	BTB (POZ) domain containing 12							77.0	75.0	76.0					16																	3647557		2197	4300	6497	SO:0001819	synonymous_variant	84464	FanconAnemia			DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3647557T>C	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.1506A>G	16.37:g.3647557T>C							p.P502P	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN			7	2133	-			502			Interaction with C20orf94, ERCC4 and MSH2.		Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	c.1506A>G	CCDS10506.2																																																																																				0.567	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		4	66	0	0	0	0.009096	0	4	66				
ABCC12	94160	broad.mit.edu	37	16	48145406	48145406	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr16:48145406C>T	ENST00000311303.3	-	16	2567	c.2222G>A	c.(2221-2223)gGa>gAa	p.G741E	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.G738E	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	741						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.G741E(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TTTCTCATTTCCTGGAGCCAA	0.403																																							uc002efc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2221-2223)GGA>GAA		ATP-binding cassette protein C12							214.0	205.0	208.0					16																	48145406		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48145406C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2222G>A	16.37:g.48145406C>T	ENSP00000311030:p.Gly741Glu					ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	p.G741E	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			16	2568	-		all_cancers(37;0.0474)|all_lung(18;0.047)	741					Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.2222G>A	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	5.951	0.359409	0.11239	.	.	ENSG00000140798	ENST00000311303;ENST00000448542	T;T	0.60548	0.18;0.18	4.64	3.45	0.39498	.	0.866502	0.10083	N	0.718232	T	0.35566	0.0936	N	0.16478	0.41	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.15665	-1.0429	10	0.06099	T	0.92	.	8.6015	0.33747	0.0:0.8728:0.0:0.1272	.	741	Q96J65	MRP9_HUMAN	E	741;738	ENSP00000311030:G741E;ENSP00000401855:G738E	ENSP00000311030:G741E	G	-	2	0	ABCC12	46702907	0.037000	0.19845	0.997000	0.53966	0.272000	0.26649	0.570000	0.23653	2.107000	0.64212	0.491000	0.48974	GGA		0.403	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		26	149	0	0	0	0.005443	0	26	149				
TAF1C	9013	broad.mit.edu	37	16	84213451	84213451	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr16:84213451G>C	ENST00000567759.1	-	14	1888	c.1706C>G	c.(1705-1707)gCt>gGt	p.A569G	TAF1C_ENST00000341690.6_Missense_Mutation_p.A475G|TAF1C_ENST00000378541.4_Missense_Mutation_p.A569G|TAF1C_ENST00000541676.1_Missense_Mutation_p.A476G|TAF1C_ENST00000566732.1_Missense_Mutation_p.A543G|TAF1C_ENST00000570117.1_Missense_Mutation_p.A237G	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	569					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.A569G(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GACGACGGCAGCCAGACCTGG	0.677																																							uc002fhn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1705-1707)GCT>GGT		TBP-associated factor 1C isoform 1							9.0	11.0	10.0					16																	84213451		2007	3860	5867	SO:0001583	missense	9013				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	g.chr16:84213451G>C	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.1706C>G	16.37:g.84213451G>C	ENSP00000455265:p.Ala569Gly					TAF1C_uc002fhm.2_Missense_Mutation_p.A475G|TAF1C_uc010vnx.1_Missense_Mutation_p.A543G|TAF1C_uc010vny.1_Missense_Mutation_p.A160G|TAF1C_uc010vnz.1_Missense_Mutation_p.A237G|TAF1C_uc002fho.2_Missense_Mutation_p.A92G|TAF1C_uc010voa.1_Missense_Mutation_p.A237G|TAF1C_uc002fhp.1_Intron	p.A569G	NM_005679	NP_005670	Q15572	TAF1C_HUMAN			14	1934	-			569					B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	ENST00000567759.1	37	c.1706C>G	CCDS32496.1	.	.	.	.	.	.	.	.	.	.	G	0.779	-0.763155	0.02996	.	.	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690;ENST00000544090	T;T;T	0.04970	3.61;3.52;3.52	4.61	2.52	0.30459	.	0.199943	0.32015	N	0.006714	T	0.15305	0.0369	M	0.70595	2.14	0.23411	N	0.997734	P;D;D;P	0.67145	0.906;0.996;0.986;0.906	P;P;P;P	0.59703	0.6;0.862;0.782;0.6	T	0.02942	-1.1091	10	0.49607	T	0.09	-10.4199	6.4094	0.21682	0.1056:0.1842:0.7102:0.0	.	543;92;569;475	Q15572-6;F5H0H4;Q15572;Q15572-2	.;.;TAF1C_HUMAN;.	G	569;476;475;92	ENSP00000367802:A569G;ENSP00000437900:A476G;ENSP00000345305:A475G	ENSP00000345305:A475G	A	-	2	0	TAF1C	82770952	0.152000	0.22762	0.575000	0.28536	0.073000	0.16967	1.365000	0.34182	0.870000	0.35726	0.462000	0.41574	GCT		0.677	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		6	5	0	0	0	0.001168	0	6	5				
DEF8	54849	broad.mit.edu	37	16	90028237	90028237	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr16:90028237C>A	ENST00000268676.7	+	8	1044	c.955C>A	c.(955-957)Cgc>Agc	p.R319S	DEF8_ENST00000567874.1_Missense_Mutation_p.R198S|DEF8_ENST00000570182.1_Missense_Mutation_p.R248S|DEF8_ENST00000569453.1_Missense_Mutation_p.R258S|DEF8_ENST00000563594.1_Missense_Mutation_p.R258S|DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000563795.1_Missense_Mutation_p.R258S	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	319					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)	p.R319S(1)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		GATCCCTGCACGCGTTGTACA	0.642																																							uc002fpn.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(955-957)CGC>AGC		differentially expressed in FDCP 8 isoform 1							55.0	48.0	51.0					16																	90028237		2198	4300	6498	SO:0001583	missense	54849				intracellular signal transduction		zinc ion binding	g.chr16:90028237C>A	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.955C>A	16.37:g.90028237C>A	ENSP00000268676:p.Arg319Ser					DEF8_uc002fpo.1_Missense_Mutation_p.R258S|DEF8_uc002fpp.1_Missense_Mutation_p.R248S|DEF8_uc010vpq.1_Missense_Mutation_p.R198S|DEF8_uc010vpr.1_Missense_Mutation_p.R258S|DEF8_uc002fpq.1_5'Flank	p.R319S	NM_207514	NP_997397	Q6ZN54	DEFI8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	8	1044	+		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)	319					B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Missense_Mutation	SNP	ENST00000268676.7	37	c.955C>A	CCDS10989.1	.	.	.	.	.	.	.	.	.	.	c	11.02	1.514631	0.27123	.	.	ENSG00000140995	ENST00000268676	T	0.55234	0.53	3.38	1.23	0.21249	.	0.000000	0.64402	D	0.000002	T	0.75019	0.3793	M	0.92833	3.35	0.46823	D	0.999219	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.983;0.983;0.992	T	0.77498	-0.2565	10	0.66056	D	0.02	-12.943	10.9834	0.47508	0.3505:0.6495:0.0:0.0	.	258;248;319	Q6ZN54-5;Q6ZN54-3;Q6ZN54	.;.;DEFI8_HUMAN	S	319	ENSP00000268676:R319S	ENSP00000268676:R319S	R	+	1	0	DEF8	88555738	0.913000	0.31002	0.023000	0.16930	0.437000	0.31866	1.841000	0.39240	0.201000	0.20466	0.486000	0.48141	CGC		0.642	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		6	24	1	0	2.7689e-08	0.001984	3.18423e-08	6	24				
ZBTB4	57659	broad.mit.edu	37	17	7369753	7369753	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr17:7369753G>A	ENST00000311403.4	-	3	707	c.368C>T	c.(367-369)cCc>cTc	p.P123L	ZBTB4_ENST00000380599.4_Missense_Mutation_p.P123L	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	123	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)	p.P123L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CAGGACCCGGGGTGGGGAAGA	0.592																																							uc002ghc.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(367-369)CCC>CTC		zinc finger and BTB domain containing 4							12.0	16.0	15.0					17																	7369753		2165	4263	6428	SO:0001583	missense	57659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:7369753G>A	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.368C>T	17.37:g.7369753G>A	ENSP00000307858:p.Pro123Leu					ZBTB4_uc002ghd.3_Missense_Mutation_p.P123L	p.P123L	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)	3	618	-		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	123			BTB.		B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Missense_Mutation	SNP	ENST00000311403.4	37	c.368C>T	CCDS11107.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863122	0.51482	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.48522	0.81;0.81	4.5	4.5	0.54988	BTB/POZ-like (2);BTB/POZ fold (2);	0.081322	0.48286	D	0.000193	T	0.30135	0.0755	N	0.03608	-0.345	0.49687	D	0.999817	P	0.51791	0.948	P	0.46362	0.514	T	0.22068	-1.0227	10	0.33141	T	0.24	-17.1852	14.7257	0.69343	0.0:0.0:1.0:0.0	.	123	Q9P1Z0	ZBTB4_HUMAN	L	123	ENSP00000307858:P123L;ENSP00000369973:P123L	ENSP00000307858:P123L	P	-	2	0	ZBTB4	7310477	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	5.947000	0.70242	2.332000	0.79248	0.462000	0.41574	CCC		0.592	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	NM_020899		3	4	0	0	0	0.004672	0	3	4				
TP53	7157	broad.mit.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	rs148924904		TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr17:7578442T>C	ENST00000269305.4	-	5	677	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000420246.2_Missense_Mutation_p.Y163C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGACTGCTTGTAGATGGCCAT	0.622		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		183	Substitution - Missense(167)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)	p.Y163C(95)|p.Y163N(17)|p.Y163H(17)|p.Y163*(7)|p.0?(7)|p.Y163S(4)|p.Y163Y(3)|p.Y163fs*1(2)|p.Y163D(2)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.I162_Y163delIY(1)	lung(49)|breast(34)|haematopoietic_and_lymphoid_tissue(14)|ovary(14)|urinary_tract(13)|large_intestine(10)|upper_aerodigestive_tract(9)|central_nervous_system(7)|oesophagus(7)|stomach(6)|biliary_tract(6)|bone(4)|pancreas(3)|soft_tissue(2)|liver(2)|endometrium(1)|salivary_gland(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM942135	TP53	M	rs148924904	c.(487-489)TAC>TGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							53.0	54.0	53.0					17																	7578442		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578442T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.488A>G	17.37:g.7578442T>C	ENSP00000269305:p.Tyr163Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.Y163C|TP53_uc002gih.2_Missense_Mutation_p.Y163C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y31C|TP53_uc010cng.1_Missense_Mutation_p.Y31C|TP53_uc002gii.1_Missense_Mutation_p.Y31C|TP53_uc010cnh.1_Missense_Mutation_p.Y163C|TP53_uc010cni.1_Missense_Mutation_p.Y163C|TP53_uc002gij.2_Missense_Mutation_p.Y163C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y70C|TP53_uc002gio.2_Missense_Mutation_p.Y31C|TP53_uc010vug.1_Missense_Mutation_p.Y124C	p.Y163C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	682	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	163		Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.488A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.567047	0.45694	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.59	3.32	0.38043	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99746	0.9899	M	0.70595	2.14	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.996;0.999;0.983;0.999;1.0;0.999;0.994	D	0.98089	1.0408	10	0.87932	D	0	-16.6607	9.5833	0.39501	0.2797:0.0:0.0:0.7203	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163C;ENSP00000352610:Y163C;ENSP00000269305:Y163C;ENSP00000398846:Y163C;ENSP00000391127:Y163C;ENSP00000391478:Y163C;ENSP00000425104:Y31C;ENSP00000423862:Y70C;ENSP00000424104:Y163C	ENSP00000269305:Y163C	Y	-	2	0	TP53	7519167	1.000000	0.71417	0.998000	0.56505	0.050000	0.14768	5.141000	0.64814	0.446000	0.26666	0.533000	0.62120	TAC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	30	0	0	0	0.003163	0	14	30				
RAI1	10743	broad.mit.edu	37	17	17701333	17701333	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr17:17701333C>A	ENST00000353383.1	+	3	5540	c.5071C>A	c.(5071-5073)Caa>Aaa	p.Q1691K	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1691					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)	p.Q1691K(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CTGCCTCTGCCAAAACCCGGC	0.597																																							uc002grm.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(5071-5073)CAA>AAA		retinoic acid induced 1							87.0	88.0	88.0					17																	17701333		2203	4300	6503	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17701333C>A	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.5071C>A	17.37:g.17701333C>A	ENSP00000323074:p.Gln1691Lys					RAI1_uc002grn.1_Missense_Mutation_p.Q1691K	p.Q1691K	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	5540	+			1691					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.5071C>A	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346033	0.41599	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000315321	T	0.50548	0.74	4.56	4.56	0.56223	.	0.097518	0.44483	D	0.000449	T	0.38799	0.1054	L	0.43152	1.355	0.80722	D	1	P	0.35383	0.498	B	0.33454	0.164	T	0.22173	-1.0224	10	0.10636	T	0.68	.	17.4975	0.87722	0.0:1.0:0.0:0.0	.	1691	Q7Z5J4	RAI1_HUMAN	K	1691;1691;1579	ENSP00000323074:Q1691K	ENSP00000322928:Q1579K	Q	+	1	0	RAI1	17642058	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.621000	0.46418	2.382000	0.81193	0.555000	0.69702	CAA		0.597	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		4	78	1	0	2.56e-06	0.009096	2.89574e-06	4	78				
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529		TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677																																							uc010wfo.1		NA																	4	Substitution - Missense(4)		endometrium(3)|kidney(1)		0						c.(283-285)TGC>AGC		keratin associated protein 4.8							7.0	11.0	10.0					17																	39254054		685	1582	2267	SO:0001583	missense	728224					keratin filament		g.chr17:39254054A>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.283T>A	17.37:g.39254054A>T	ENSP00000328444:p.Cys95Ser						p.C95S	NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN			1	322	-			95			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].|15.		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.283T>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.755714	0.49362	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02280	4.36	3.11	2.01	0.26516	.	0.000000	0.52532	U	0.000067	T	0.04497	0.0123	M	0.83223	2.63	0.25182	N	0.99019	B	0.21606	0.058	B	0.27887	0.084	T	0.21793	-1.0235	10	0.54805	T	0.06	.	6.3859	0.21559	0.8715:0.0:0.1285:0.0	.	95	Q9BYQ9	KRA48_HUMAN	S	95;80	ENSP00000328444:C95S	ENSP00000414561:C80S	C	-	1	0	KRTAP4-8	36507580	0.999000	0.42202	0.393000	0.26258	0.649000	0.38597	3.122000	0.50446	0.404000	0.25506	0.374000	0.22700	TGC		0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		3	33	0	0	0	0.004672	0	3	33				
UNK	85451	broad.mit.edu	37	17	73818612	73818612	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr17:73818612C>G	ENST00000589666.1	+	14	2002	c.1892C>G	c.(1891-1893)tCc>tGc	p.S631C	UNK_ENST00000293218.3_Missense_Mutation_p.S707C|RP11-552F3.4_ENST00000586808.1_RNA	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	631							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S631C(1)|p.S707C(1)		cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGAAGCTTCTCCCCGGGCACT	0.617																																							uc002jpm.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2119-2121)TCC>TGC		zinc finger CCCH-type domain containing 5							93.0	101.0	99.0					17																	73818612		1944	4137	6081	SO:0001583	missense	85451						nucleic acid binding|zinc ion binding	g.chr17:73818612C>G	AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.1892C>G	17.37:g.73818612C>G	ENSP00000464893:p.Ser631Cys						p.S707C	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)		15	2120	+			631						Missense_Mutation	SNP	ENST00000589666.1	37	c.2120C>G	CCDS45778.2	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999009	0.74818	.	.	ENSG00000132478	ENST00000293218	.	.	.	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.75496	0.3857	M	0.72894	2.215	0.58432	D	0.999991	D	0.76494	0.999	P	0.58454	0.839	T	0.79332	-0.1847	9	0.72032	D	0.01	-15.6029	17.9634	0.89092	0.0:1.0:0.0:0.0	.	631	Q9C0B0	UNK_HUMAN	C	707	.	ENSP00000293218:S707C	S	+	2	0	UNK	71330207	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.320000	0.79064	2.470000	0.83445	0.591000	0.81541	TCC		0.617	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1	NM_001080419		21	65	0	0	0	0.016522	0	21	65				
PPAN	56342	broad.mit.edu	37	19	10218236	10218236	+	Missense_Mutation	SNP	T	T	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr19:10218236T>G	ENST00000253107.7	+	3	351	c.245T>G	c.(244-246)gTc>gGc	p.V82G	PPAN_ENST00000556468.1_Missense_Mutation_p.V82G|SNORD105B_ENST00000458770.1_RNA|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.V82G|SNORD105_ENST00000386910.1_RNA|PPAN_ENST00000393793.1_Missense_Mutation_p.V29G|PPAN-P2RY11_ENST00000428358.1_Missense_Mutation_p.V82G	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	82	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.V82G(2)		endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CCCCTCGGGGTCACACACTTT	0.507																																							uc002mna.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(244-246)GTC>GGC		PPAN-P2RY11 protein							59.0	67.0	64.0					19																	10218236		2203	4300	6503	SO:0001583	missense	692312				RNA splicing	nucleolus	protein binding	g.chr19:10218236T>G	BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"""peter pan (Drosophila) homolog"""			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.245T>G	19.37:g.10218236T>G	ENSP00000253107:p.Val82Gly					PPAN-P2RY11_uc010xla.1_Missense_Mutation_p.V82G|PPAN_uc002mmz.1_Missense_Mutation_p.V82G|PPAN_uc002mnb.1_Missense_Mutation_p.V29G|SNORD105_uc010dwy.1_5'Flank|SNORD105B_uc010dwz.1_5'Flank	p.V82G	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		3	245	+			82			Brix.		C9J3F9|Q9BW97|Q9H170	Missense_Mutation	SNP	ENST00000253107.7	37	c.245T>G	CCDS12225.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.777401	0.90195	.	.	ENSG00000243207;ENSG00000243207;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810	ENST00000428358;ENST00000393796;ENST00000253107;ENST00000556468;ENST00000342696;ENST00000393793;ENST00000446223;ENST00000430370	T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84	5.71	5.71	0.89125	Brix domain (3);	.	.	.	.	T	0.61438	0.2347	M	0.93678	3.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.997;0.997	T	0.72221	-0.4356	9	0.87932	D	0	-58.8173	13.9353	0.64021	0.0:0.0:0.0:1.0	.	82;82;82	C9J3F9;C9JW41;Q9NQ55	.;.;SSF1_HUMAN	G	82;82;82;82;82;29;20;20	ENSP00000411918:V82G;ENSP00000377385:V82G;ENSP00000253107:V82G;ENSP00000450710:V82G;ENSP00000377382:V29G;ENSP00000410485:V20G;ENSP00000415988:V20G	ENSP00000253107:V82G	V	+	2	0	PPAN;PPAN-P2RY11	10079236	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	6.654000	0.74387	2.184000	0.69523	0.454000	0.30748	GTC		0.507	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316658.1	NM_020230		3	36	0	0	0	0.00308	0	3	36				
TYK2	7297	broad.mit.edu	37	19	10478970	10478970	+	Splice_Site	SNP	C	C	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr19:10478970C>A	ENST00000525621.1	-	4	799		c.e4+1		TYK2_ENST00000264818.6_Splice_Site|TYK2_ENST00000524462.1_Intron|TYK2_ENST00000529370.1_Splice_Site	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2						cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TCTCCACCCACCTTATGCGGA	0.542																																							uc002moc.3		NA																	1	Unknown(1)		lung(1)	lung(5)|large_intestine(2)|ovary(1)|breast(1)	9						c.e4+1		tyrosine kinase 2							158.0	141.0	147.0					19																	10478970		2203	4300	6503	SO:0001630	splice_region_variant	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10478970C>A		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.317+1G>T	19.37:g.10478970C>A						TYK2_uc010dxe.2_Intron|TYK2_uc002mod.2_Splice_Site_p.R106_splice	p.R106_splice	NM_003331	NP_003322	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		4	695	-								Q6QB10|Q96CH0	Splice_Site	SNP	ENST00000525621.1	37	c.317_splice	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.477085	0.63849	.	.	ENSG00000105397	ENST00000525621;ENST00000264818;ENST00000529370;ENST00000531836	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8262	0.63352	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TYK2	10339970	1.000000	0.71417	0.999000	0.59377	0.846000	0.48090	6.387000	0.73191	2.325000	0.78763	0.544000	0.68410	.		0.542	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1		Intron	40	47	1	0	1.8453e-21	0.010771	2.15806e-21	40	47				
ABCG5	64240	broad.mit.edu	37	2	44047199	44047199	+	Missense_Mutation	SNP	A	A	C	rs79482684		TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr2:44047199A>C	ENST00000260645.1	-	11	1643	c.1504T>G	c.(1504-1506)Ttt>Gtt	p.F502V	ABCG5_ENST00000543989.1_Missense_Mutation_p.F107V|ABCG5_ENST00000405322.1_Missense_Mutation_p.F331V	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	502	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)	p.F502V(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	GCAGCAGAAAAATATCCAAAT	0.423																																							uc002rtn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1504-1506)TTT>GTT		ATP-binding cassette sub-family G member 5							64.0	66.0	65.0					2																	44047199		2203	4300	6503	SO:0001583	missense	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44047199A>C	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.1504T>G	2.37:g.44047199A>C	ENSP00000260645:p.Phe502Val					ABCG5_uc002rtm.2_Missense_Mutation_p.F107V|ABCG5_uc002rto.2_Missense_Mutation_p.F331V|ABCG5_uc002rtp.2_Missense_Mutation_p.F107V	p.F502V	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN			11	1644	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	502			Extracellular (Potential).|ABC transmembrane type-2.		Q2T9G2|Q96QZ2|Q96QZ3	Missense_Mutation	SNP	ENST00000260645.1	37	c.1504T>G	CCDS1814.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.043773	0.75732	.	.	ENSG00000138075	ENST00000260645;ENST00000405322;ENST00000543989	T;T;T	0.71698	-0.59;-0.59;-0.59	4.79	4.79	0.61399	ABC-2 type transporter (1);	0.659647	0.16091	N	0.230071	D	0.82967	0.5152	M	0.77103	2.36	0.80722	D	1	D;P	0.62365	0.991;0.885	D;P	0.64687	0.928;0.666	D	0.84395	0.0557	10	0.66056	D	0.02	.	14.1561	0.65419	1.0:0.0:0.0:0.0	.	331;502	E7EX35;Q9H222	.;ABCG5_HUMAN	V	502;331;107	ENSP00000260645:F502V;ENSP00000384513:F331V;ENSP00000445107:F107V	ENSP00000260645:F502V	F	-	1	0	ABCG5	43900703	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	4.919000	0.63383	2.003000	0.58678	0.533000	0.62120	TTT		0.423	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436		8	18	0	0	0	0.00308	0	8	18				
FOXN2	3344	broad.mit.edu	37	2	48602224	48602224	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr2:48602224G>A	ENST00000340553.3	+	7	1199	c.938G>A	c.(937-939)cGt>cAt	p.R313H		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	313					transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R313H(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			GCAGCACAGCGTTGTGCATCC	0.458																																							uc002rwh.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(937-939)CGT>CAT		T-cell leukemia virus enhancer factor							136.0	109.0	118.0					2																	48602224		2203	4300	6503	SO:0001583	missense	3344				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:48602224G>A		CCDS1838.1	2p22-p16	2008-02-05	2006-10-02	2006-10-02	ENSG00000170802	ENSG00000170802		"""Forkhead boxes"""	5281	protein-coding gene	gene with protein product		143089	"""human T-cell leukemia virus enhancer factor"""	HTLF		1639393	Standard	NM_002158		Approved		uc002rwh.1	P32314	OTTHUMG00000129168	ENST00000340553.3:c.938G>A	2.37:g.48602224G>A	ENSP00000343633:p.Arg313His						p.R313H	NM_002158	NP_002149	P32314	FOXN2_HUMAN	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)		7	1253	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	313					Q15769|Q6P4Q2	Missense_Mutation	SNP	ENST00000340553.3	37	c.938G>A	CCDS1838.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745290	0.89663	.	.	ENSG00000170802	ENST00000304367;ENST00000340553	D	0.95412	-3.7	4.69	4.69	0.59074	.	0.056787	0.64402	D	0.000001	D	0.97021	0.9027	L	0.58810	1.83	0.58432	D	0.999993	D	0.89917	1.0	D	0.80764	0.994	D	0.97193	0.9859	10	0.56958	D	0.05	.	18.2506	0.90002	0.0:0.0:1.0:0.0	.	313	P32314	FOXN2_HUMAN	H	222;313	ENSP00000343633:R313H	ENSP00000305685:R222H	R	+	2	0	FOXN2	48455728	1.000000	0.71417	0.955000	0.39395	0.979000	0.70002	7.684000	0.84104	2.603000	0.88011	0.650000	0.86243	CGT		0.458	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251240.3	NM_002158		5	31	0	0	0	0.001168	0	5	31				
TSGA10	80705	broad.mit.edu	37	2	99722034	99722034	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr2:99722034G>A	ENST00000393483.3	-	8	1181	c.337C>T	c.(337-339)Cga>Tga	p.R113*	TSGA10_ENST00000355053.4_Nonsense_Mutation_p.R113*|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000542655.1_Nonsense_Mutation_p.R113*|TSGA10_ENST00000410001.1_Nonsense_Mutation_p.R113*|TSGA10_ENST00000539964.1_Nonsense_Mutation_p.R113*	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	113					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.R113*(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						GTCATTCTTCGTAAATCAGTA	0.398																																							uc002szg.3		NA																	1	Substitution - Nonsense(1)		breast(1)	ovary(1)|central_nervous_system(1)	2						c.(337-339)CGA>TGA		testis specific, 10							243.0	235.0	238.0					2																	99722034		2203	4300	6503	SO:0001587	stop_gained	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99722034G>A	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.337C>T	2.37:g.99722034G>A	ENSP00000377123:p.Arg113*					TSGA10_uc002szh.3_Nonsense_Mutation_p.R113*|TSGA10_uc002szi.3_Nonsense_Mutation_p.R113*|TSGA10_uc010fin.1_Nonsense_Mutation_p.R113*|TSGA10_uc010yvn.1_Nonsense_Mutation_p.R113*	p.R113*	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN			6	965	-			113					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Nonsense_Mutation	SNP	ENST00000393483.3	37	c.337C>T	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	G	41	9.156371	0.99084	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	.	.	.	4.8	3.9	0.45041	.	0.000000	0.45867	D	0.000326	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.6963	13.0785	0.59100	0.0:0.0:0.8381:0.1619	.	.	.	.	X	113	.	ENSP00000347161:R113X	R	-	1	2	TSGA10	99088466	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.580000	0.53907	1.207000	0.43291	0.650000	0.86243	CGA		0.398	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		50	130	0	0	0	0.01441	0	50	130				
CST5	1473	broad.mit.edu	37	20	23858221	23858221	+	Missense_Mutation	SNP	T	T	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr20:23858221T>G	ENST00000304710.4	-	2	339	c.266A>C	c.(265-267)aAg>aCg	p.K89T		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	89					negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.K89T(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						TCGACCGAACTTCACATTGAA	0.527																																							uc002wtr.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(265-267)AAG>ACG		cystatin D precursor							264.0	197.0	220.0					20																	23858221		2203	4300	6503	SO:0001583	missense	1473					extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr20:23858221T>G		CCDS13162.1	20p11.21	2008-04-15			ENSG00000170367	ENSG00000170367			2477	protein-coding gene	gene with protein product		123858				1939105	Standard	NM_001900		Approved		uc002wtr.1	P28325	OTTHUMG00000032089	ENST00000304710.4:c.266A>C	20.37:g.23858221T>G	ENSP00000307132:p.Lys89Thr						p.K89T	NM_001900	NP_001891	P28325	CYTD_HUMAN			2	333	-			89					Q5JRF5|Q9UCA0	Missense_Mutation	SNP	ENST00000304710.4	37	c.266A>C	CCDS13162.1	.	.	.	.	.	.	.	.	.	.	T	14.12	2.439512	0.43326	.	.	ENSG00000170367	ENST00000304710	T	0.26957	1.7	2.56	2.56	0.30785	Proteinase inhibitor I25, cystatin, conserved site (1);Proteinase inhibitor I25, cystatin (2);	0.810281	0.11033	U	0.606958	T	0.36880	0.0983	L	0.50333	1.59	0.09310	N	1	P	0.51653	0.947	P	0.59703	0.862	T	0.09997	-1.0649	10	0.46703	T	0.11	.	6.905	0.24303	0.0:0.0:0.0:1.0	.	89	P28325	CYTD_HUMAN	T	89	ENSP00000307132:K89T	ENSP00000307132:K89T	K	-	2	0	CST5	23806221	0.004000	0.15560	0.040000	0.18447	0.020000	0.10135	1.068000	0.30629	1.174000	0.42811	0.379000	0.24179	AAG		0.527	CST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078355.2	NM_001900		8	40	0	0	0	0.006214	0	8	40				
ZNF217	7764	broad.mit.edu	37	20	52198741	52198741	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr20:52198741C>G	ENST00000371471.2	-	2	1050	c.625G>C	c.(625-627)Gag>Cag	p.E209Q	ZNF217_ENST00000540425.1_5'Flank|ZNF217_ENST00000302342.3_Missense_Mutation_p.E209Q			O75362	ZN217_HUMAN	zinc finger protein 217	209					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E209Q(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GAGATGCTCTCGGCCGCGTGC	0.502																																							uc002xwq.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6						c.(625-627)GAG>CAG		zinc finger protein 217							146.0	148.0	147.0					20																	52198741		2203	4300	6503	SO:0001583	missense	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52198741C>G	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.625G>C	20.37:g.52198741C>G	ENSP00000360526:p.Glu209Gln					ZNF217_uc010gij.1_Missense_Mutation_p.E201Q	p.E209Q	NM_006526	NP_006517	O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		1	896	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		209					E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	c.625G>C	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	C	5.572	0.290426	0.10567	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.09817	2.94;2.94	5.25	5.25	0.73442	.	0.292436	0.32401	N	0.006157	T	0.09992	0.0245	L	0.27053	0.805	0.19300	N	0.999979	B	0.32040	0.353	B	0.33620	0.167	T	0.22312	-1.0220	10	0.51188	T	0.08	-16.8418	14.4309	0.67249	0.0:0.8525:0.1475:0.0	.	209	O75362	ZN217_HUMAN	Q	209	ENSP00000360526:E209Q;ENSP00000304308:E209Q	ENSP00000304308:E209Q	E	-	1	0	ZNF217	51632148	0.044000	0.20184	0.039000	0.18376	0.030000	0.12068	2.294000	0.43567	2.616000	0.88540	0.591000	0.81541	GAG		0.502	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		6	126	0	0	0	0.00308	0	6	126				
GART	2618	broad.mit.edu	37	21	34897281	34897281	+	Silent	SNP	G	G	A	rs139633075	byFrequency	TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr21:34897281G>A	ENST00000381831.3	-	11	1356	c.1093C>T	c.(1093-1095)Ctg>Ttg	p.L365L	GART_ENST00000381839.3_Silent_p.L365L|GART_ENST00000381815.4_Silent_p.L365L|GART_ENST00000543717.1_5'Flank|GART_ENST00000361093.5_Silent_p.L365L	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	365					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)	p.L365L(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	AACACCTCCAGTCCTAGAGCT	0.443																																							uc002yrx.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1093-1095)CTG>TTG		phosphoribosylglycinamide formyltransferase,	Pemetrexed(DB00642)						77.0	67.0	70.0					21																	34897281		2203	4300	6503	SO:0001819	synonymous_variant	2618				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	g.chr21:34897281G>A	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.1093C>T	21.37:g.34897281G>A						GART_uc002yrz.2_Silent_p.L365L|GART_uc010gmd.2_Silent_p.L27L|GART_uc002yry.2_Silent_p.L365L|GART_uc002ysa.2_Silent_p.L365L	p.L365L	NM_000819	NP_000810	P22102	PUR2_HUMAN			11	1228	-			365					A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Silent	SNP	ENST00000381831.3	37	c.1093C>T	CCDS13627.1																																																																																				0.443	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		27	54	0	0	0	0.021523	0	27	54				
TRPC1	7220	broad.mit.edu	37	3	142499837	142499837	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr3:142499837G>A	ENST00000476941.1	+	6	1412	c.926G>A	c.(925-927)cGt>cAt	p.R309H	TRPC1_ENST00000273482.6_Missense_Mutation_p.R275H	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	309					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)	p.R275H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						AATTTAAGTCGTCTAAAACTT	0.368																																							uc003evc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(925-927)CGT>CAT		transient receptor potential cation channel,							49.0	52.0	51.0					3																	142499837		2203	4300	6503	SO:0001583	missense	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142499837G>A	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.926G>A	3.37:g.142499837G>A	ENSP00000419313:p.Arg309His					TRPC1_uc003evb.2_Missense_Mutation_p.R275H	p.R309H	NM_003304	NP_003295	P48995	TRPC1_HUMAN			6	1062	+			309			Cytoplasmic (Potential).		Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	c.926G>A	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	G	34	5.353964	0.95830	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.74315	-0.83;-0.83	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.87783	0.6264	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.85130	0.976;0.997	D	0.88404	0.3017	10	0.87932	D	0	-18.6433	20.04	0.97581	0.0:0.0:1.0:0.0	.	309;275	P48995;P48995-2	TRPC1_HUMAN;.	H	309;275	ENSP00000419313:R309H;ENSP00000273482:R275H	ENSP00000273482:R275H	R	+	2	0	TRPC1	143982527	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.733000	0.93635	0.655000	0.94253	CGT		0.368	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		16	44	0	0	0	0.007413	0	16	44				
SHOX2	6474	broad.mit.edu	37	3	157817685	157817685	+	Silent	SNP	A	A	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr3:157817685A>G	ENST00000425436.3	-	4	691	c.666T>C	c.(664-666)taT>taC	p.Y222Y	SHOX2_ENST00000389589.4_Silent_p.Y246Y|SHOX2_ENST00000441443.2_Silent_p.Y93Y|SHOX2_ENST00000483851.2_Silent_p.Y222Y|SHOX2_ENST00000490689.2_Silent_p.Y93Y|SHOX2_ENST00000554685.1_5'Flank	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	222					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.Y246Y(1)|p.Y93Y(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CTACGTTGACATAAGGTGCGA	0.408																																							uc003fbr.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(664-666)TAT>TAC		short stature homeobox 2 isoform a							55.0	55.0	55.0					3																	157817685		2203	4300	6503	SO:0001819	synonymous_variant	6474				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:157817685A>G	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"""Homeoboxes / PRD class"""	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.666T>C	3.37:g.157817685A>G						SHOX2_uc003fbs.2_Silent_p.Y246Y|SHOX2_uc010hvw.2_Silent_p.Y222Y	p.Y222Y	NM_006884	NP_006875	O60902	SHOX2_HUMAN	Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)		4	805	-			222					O60465|O60467|O60903	Silent	SNP	ENST00000425436.3	37	c.666T>C	CCDS43164.1	.	.	.	.	.	.	.	.	.	.	A	8.750	0.921006	0.17982	.	.	ENSG00000168779	ENST00000555977	.	.	.	6.07	3.72	0.42706	.	.	.	.	.	T	0.58991	0.2161	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53187	-0.8474	4	.	.	.	.	9.0844	0.36572	0.7861:0.0:0.2139:0.0	.	.	.	.	R	126	.	.	C	-	1	0	SHOX2	159300379	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.277000	0.43417	0.549000	0.28973	0.533000	0.62120	TGT		0.408	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2			17	21	0	0	0	0.012319	0	17	21				
SMC4	10051	broad.mit.edu	37	3	160135665	160135665	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr3:160135665C>G	ENST00000357388.3	+	11	2043	c.1592C>G	c.(1591-1593)tCt>tGt	p.S531C	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000469762.1_Missense_Mutation_p.S506C|SMC4_ENST00000462787.1_Missense_Mutation_p.S531C|SMC4_ENST00000344722.5_Missense_Mutation_p.S531C|SMC4_ENST00000360111.2_Missense_Mutation_p.S531C	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	531					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.S531C(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATTGCAGCTTCTGAGACTCTC	0.388																																							uc003fdh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1591-1593)TCT>TGT		SMC4 structural maintenance of chromosomes							63.0	61.0	62.0					3																	160135665		2203	4300	6503	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160135665C>G	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.1592C>G	3.37:g.160135665C>G	ENSP00000349961:p.Ser531Cys					IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.S295C|SMC4_uc003fdi.2_Missense_Mutation_p.S506C|SMC4_uc003fdj.2_Missense_Mutation_p.S531C|SMC4_uc010hwd.2_Missense_Mutation_p.S531C|SMC4_uc003fdl.2_Missense_Mutation_p.S234C	p.S531C	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		11	1705	+			531			Potential.		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.1592C>G	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336768	0.81801	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16	5.74	5.74	0.90152	RecF/RecN/SMC (1);	0.104766	0.64402	D	0.000002	D	0.88514	0.6457	M	0.79475	2.455	0.51767	D	0.999939	D;D;D;D	0.76494	0.999;0.985;0.986;0.999	D;P;P;D	0.68192	0.946;0.886;0.866;0.956	D	0.88691	0.3209	10	0.62326	D	0.03	-8.5362	19.9351	0.97137	0.0:1.0:0.0:0.0	.	531;506;506;531	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	C	531;531;506;531;531;125	ENSP00000349961:S531C;ENSP00000353225:S531C;ENSP00000417964:S506C;ENSP00000420734:S531C;ENSP00000341382:S531C	ENSP00000341382:S531C	S	+	2	0	SMC4	161618359	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.455000	0.60075	2.703000	0.92315	0.655000	0.94253	TCT		0.388	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			11	42	0	0	0	0.010729	0	11	42				
SLITRK3	22865	broad.mit.edu	37	3	164907274	164907274	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr3:164907274C>T	ENST00000475390.1	-	2	1788	c.1345G>A	c.(1345-1347)Gat>Aat	p.D449N	SLITRK3_ENST00000241274.3_Missense_Mutation_p.D449N			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	449					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.D449N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AAGGCCCCATCTTGGACATAG	0.423										HNSCC(40;0.11)																													uc003fej.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(1345-1347)GAT>AAT		slit and trk like 3 protein precursor							52.0	54.0	53.0					3																	164907274		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164907274C>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1345G>A	3.37:g.164907274C>T	ENSP00000420091:p.Asp449Asn	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.D449N	p.D449N	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	1789	-			449			LRR 8.|Extracellular (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.1345G>A	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179152	0.57800	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.58940	0.3;0.3	5.58	5.58	0.84498	.	0.000000	0.38959	N	0.001502	T	0.42630	0.1211	N	0.12887	0.27	0.58432	D	0.999998	P	0.37914	0.611	B	0.36959	0.237	T	0.29397	-1.0013	10	0.23891	T	0.37	-22.5085	19.3769	0.94514	0.0:1.0:0.0:0.0	.	449	O94933	SLIK3_HUMAN	N	449	ENSP00000420091:D449N;ENSP00000241274:D449N	ENSP00000241274:D449N	D	-	1	0	SLITRK3	166389968	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.651000	0.83577	2.906000	0.99361	0.655000	0.94253	GAT		0.423	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		15	40	0	0	0	0.006122	0	15	40				
DCANP1	140947	broad.mit.edu	37	5	134782134	134782134	+	Missense_Mutation	SNP	A	A	C			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr5:134782134A>C	ENST00000503143.2	-	1	904	c.665T>G	c.(664-666)gTg>gGg	p.V222G	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN		222	Ser-rich.					nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGAGGAACTCACCCGCCTGCT	0.577																																							uc003lav.2		NA																	0					0						c.(664-666)GTG>GGG		dendritic cell nuclear protein 1							86.0	89.0	88.0					5																	134782134		2203	4300	6503	SO:0001583	missense	140947					nucleus		g.chr5:134782134A>C																												ENST00000503143.2:c.665T>G	5.37:g.134782134A>C	ENSP00000421871:p.Val222Gly						p.V222G	NM_130848	NP_570900	Q8TF63	DCNP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	905	-			222			Ser-rich.			Missense_Mutation	SNP	ENST00000503143.2	37	c.665T>G	CCDS4186.1	.	.	.	.	.	.	.	.	.	.	A	5.356	0.251027	0.10130	.	.	ENSG00000251380	ENST00000503143	T	0.39592	1.07	2.85	-3.35	0.04928	.	.	.	.	.	T	0.26268	0.0641	N	0.08118	0	0.09310	N	1	D	0.58268	0.982	P	0.51777	0.679	T	0.16600	-1.0397	9	0.87932	D	0	.	3.7142	0.08431	0.2846:0.0:0.1265:0.5889	.	222	Q8TF63	DCNP1_HUMAN	G	222	ENSP00000421871:V222G	ENSP00000421871:V222G	V	-	2	0	C5orf20	134810033	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-1.146000	0.03191	-0.710000	0.05001	0.402000	0.26972	GTG		0.577	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1			7	48	0	0	0	0.006214	0	7	48				
HNRNPH1	3187	broad.mit.edu	37	5	179045155	179045155	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr5:179045155A>T	ENST00000356731.5	-	5	2241	c.706T>A	c.(706-708)Tat>Aat	p.Y236N	HNRNPH1_ENST00000329433.6_Missense_Mutation_p.Y236N|HNRNPH1_ENST00000524180.1_5'Flank|HNRNPH1_ENST00000510411.1_Missense_Mutation_p.Y236N|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.Y236N|HNRNPH1_ENST00000511300.2_5'Flank|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.Y236N			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	236	2 X 16 AA Gly-rich approximate repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)	p.Y236N(3)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CCTCCACCATAAGCACCACGC	0.507																																							uc003mkf.3		NA																	3	Substitution - Missense(3)		lung(3)		0						c.(706-708)TAT>AAT		heterogeneous nuclear ribonucleoprotein H1							181.0	155.0	164.0					5																	179045155		2203	4300	6503	SO:0001583	missense	3187				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding	g.chr5:179045155A>T	BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"""RNA binding motif (RRM) containing"""	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.706T>A	5.37:g.179045155A>T	ENSP00000349168:p.Tyr236Asn					HNRNPH1_uc011dgn.1_5'Flank|HNRNPH1_uc003mkg.3_Missense_Mutation_p.Y144N|HNRNPH1_uc003mke.3_Missense_Mutation_p.Y236N|HNRNPH1_uc003mkh.3_Missense_Mutation_p.Y236N	p.Y236N	NM_005520	NP_005511	P31943	HNRH1_HUMAN			6	812	-			236			2 X 16 AA Gly-rich approximate repeats.|1-1.		B3KW86|D3DWQ2|Q6IBM4	Missense_Mutation	SNP	ENST00000356731.5	37	c.706T>A	CCDS4446.1	.	.	.	.	.	.	.	.	.	.	a	13.18	2.161018	0.38119	.	.	ENSG00000169045	ENST00000393432;ENST00000442819;ENST00000356731;ENST00000329433;ENST00000510411;ENST00000523921	T;T;T;T;T;T	0.12774	2.79;2.79;2.79;2.78;2.8;2.65	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.28466	0.0704	M	0.79475	2.455	0.80722	D	1	P	0.49358	0.923	P	0.50049	0.629	T	0.02829	-1.1105	10	0.31617	T	0.26	-4.8041	15.9411	0.79754	1.0:0.0:0.0:0.0	.	236	P31943	HNRH1_HUMAN	N	236;236;236;236;236;50	ENSP00000377082:Y236N;ENSP00000397797:Y236N;ENSP00000349168:Y236N;ENSP00000327539:Y236N;ENSP00000426275:Y236N;ENSP00000429270:Y50N	ENSP00000327539:Y236N	Y	-	1	0	HNRNPH1	178977761	1.000000	0.71417	0.998000	0.56505	0.579000	0.36224	8.910000	0.92685	2.222000	0.72286	0.477000	0.44152	TAT		0.507	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	NM_005520		27	136	0	0	0	0.007291	0	27	136				
Unknown	0	broad.mit.edu	37	6	29855805	29855805	+	IGR	SNP	C	C	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr6:29855805C>G								HLA-G (56903 upstream) : HLA-A (53231 downstream)																							TCATCTCCGTCGGCTACGTGG	0.682																																							uc010jro.2		NA																	0					0						c.(40-42)GTC>GTG		SubName: Full=cDNA FLJ52667, highly similar to HLA class I histocompatibility antigen, alpha chain H;																																				SO:0001628	intergenic_variant	3136							g.chr6:29855805C>G																													6.37:g.29855805C>G						HLA-G_uc011dmb.1_Intron|HLA-H_uc003nod.2_RNA	p.V14V							2	94	+									Silent	SNP		37	c.42C>G																																																																																				0	0.682									4	23	0	0	0	0.009096	0	4	23				
TNRC18	84629	broad.mit.edu	37	7	5427961	5427961	+	Silent	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr7:5427961G>A	ENST00000430969.1	-	5	1842	c.1494C>T	c.(1492-1494)ccC>ccT	p.P498P	TNRC18_ENST00000399537.4_Silent_p.P498P	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	498	Pro-rich.						chromatin binding (GO:0003682)	p.P498P(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGGGGCGCCCGGGCTCCAGGC	0.736																																							uc003soi.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1492-1494)CCC>CCT		trinucleotide repeat containing 18							5.0	7.0	7.0					7																	5427961		1725	3896	5621	SO:0001819	synonymous_variant	84629						DNA binding	g.chr7:5427961G>A	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.1494C>T	7.37:g.5427961G>A						TNRC18_uc010ksx.1_Silent_p.P424P	p.P498P	NM_001080495	NP_001073964	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	5	1843	-		Ovarian(82;0.142)	498			Pro-rich.		A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	c.1494C>T	CCDS47534.1																																																																																				0.736	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				3	6	0	0	0	0.004672	0	3	6				
PON3	5446	broad.mit.edu	37	7	94993257	94993257	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr7:94993257G>A	ENST00000265627.5	-	6	623	c.613C>T	c.(613-615)Ctt>Ttt	p.L205F	PON3_ENST00000427422.1_Missense_Mutation_p.L205F|PON1_ENST00000542556.1_Intron|PON3_ENST00000451904.1_Missense_Mutation_p.L205F	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	205					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)	p.L205F(1)|p.L205V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	CTGTAGAAAAGAACATAAGTC	0.443																																							uc003unt.2		NA																	2	Substitution - Missense(2)	p.L205V(1)	ovary(1)|lung(1)	ovary(1)	1						c.(613-615)CTT>TTT		paraoxonase 3							183.0	187.0	186.0					7																	94993257		2203	4300	6503	SO:0001583	missense	5446				aromatic compound catabolic process|carboxylic acid catabolic process|response to external stimulus	extracellular space	aryldialkylphosphatase activity|arylesterase activity|metal ion binding|protein homodimerization activity	g.chr7:94993257G>A	L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.613C>T	7.37:g.94993257G>A	ENSP00000265627:p.Leu205Phe					PON1_uc011kih.1_Intron|PON3_uc011kii.1_Missense_Mutation_p.L253F	p.L205F	NM_000940	NP_000931	Q15166	PON3_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		6	638	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		205					A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Missense_Mutation	SNP	ENST00000265627.5	37	c.613C>T	CCDS5639.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760362	0.69763	.	.	ENSG00000105852	ENST00000265627;ENST00000427422	T;T	0.45668	0.89;0.89	5.27	-3.24	0.05094	Six-bladed beta-propeller, TolB-like (1);	0.387835	0.28442	N	0.015332	T	0.44180	0.1281	M	0.66939	2.045	0.09310	N	1	B;P	0.48407	0.028;0.91	B;P	0.51550	0.018;0.673	T	0.44757	-0.9307	10	0.87932	D	0	-2.1494	7.7473	0.28877	0.0707:0.5718:0.1756:0.1819	.	253;205	B4E2I0;Q15166	.;PON3_HUMAN	F	205	ENSP00000265627:L205F;ENSP00000413276:L205F	ENSP00000265627:L205F	L	-	1	0	PON3	94831193	0.982000	0.34865	0.001000	0.08648	0.263000	0.26337	0.808000	0.27154	-0.217000	0.10033	0.655000	0.94253	CTT		0.443	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940		11	154	0	0	0	0.010729	0	11	154				
DYNC1I1	1780	broad.mit.edu	37	7	95665044	95665044	+	Silent	SNP	C	C	T			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr7:95665044C>T	ENST00000324972.6	+	13	1588	c.1395C>T	c.(1393-1395)taC>taT	p.Y465Y	DYNC1I1_ENST00000437599.1_Silent_p.Y445Y|DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000457059.1_Silent_p.Y448Y|DYNC1I1_ENST00000359388.4_Silent_p.Y428Y|DYNC1I1_ENST00000537881.1_Silent_p.Y428Y|DYNC1I1_ENST00000447467.2_Silent_p.Y448Y	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	465					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)	p.Y465Y(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GTACAGTCTACACGGCTTGTC	0.443																																							uc003uoc.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|kidney(1)	4						c.(1393-1395)TAC>TAT		dynein, cytoplasmic 1, intermediate chain 1							348.0	284.0	306.0					7																	95665044		2203	4300	6503	SO:0001819	synonymous_variant	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95665044C>T	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1395C>T	7.37:g.95665044C>T						DYNC1I1_uc003uod.3_Silent_p.Y448Y|DYNC1I1_uc003uob.2_Silent_p.Y428Y|DYNC1I1_uc003uoe.3_Silent_p.Y445Y|DYNC1I1_uc010lfl.2_Silent_p.Y454Y	p.Y465Y	NM_004411	NP_004402	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		13	1672	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		465			WD 4.		B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Silent	SNP	ENST00000324972.6	37	c.1395C>T	CCDS5644.1																																																																																				0.443	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		50	106	0	0	0	0.01441	0	50	106				
FBXO24	26261	broad.mit.edu	37	7	100190473	100190473	+	Missense_Mutation	SNP	C	C	T	rs201493865		TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr7:100190473C>T	ENST00000241071.6	+	5	948	c.626C>T	c.(625-627)cCg>cTg	p.P209L	FBXO24_ENST00000468962.1_Missense_Mutation_p.P197L|FBXO24_ENST00000427939.2_Missense_Mutation_p.P247L|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.P195L|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000360609.2_Missense_Mutation_p.P195L	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	209					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.P209L(1)|p.P247L(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACTCGGGAGCCGCAGGAAGTG	0.567													A|||	1	0.000199681	0.0	0.0014	5008	,	,		15823	0.0		0.0	False		,,,				2504	0.0						uc003uvm.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(625-627)CCG>CTG		F-box only protein 24 isoform 1							64.0	59.0	61.0					7																	100190473		2203	4300	6503	SO:0001583	missense	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100190473C>T	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.626C>T	7.37:g.100190473C>T	ENSP00000241071:p.Pro209Leu					FBXO24_uc010lha.1_RNA|FBXO24_uc003uvl.1_Missense_Mutation_p.P195L|FBXO24_uc003uvn.1_5'UTR|uc011kjy.1_RNA|FBXO24_uc011kjz.1_Missense_Mutation_p.P247L|FBXO24_uc011kka.1_Missense_Mutation_p.P197L	p.P209L	NM_033506	NP_277041	O75426	FBX24_HUMAN			5	919	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		209					A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	37	c.626C>T	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	A	17.22	3.333763	0.60853	.	.	ENSG00000106336	ENST00000241071;ENST00000360609;ENST00000465843;ENST00000468962;ENST00000427939	T;T;T;T;T	0.42513	2.57;0.97;0.97;2.57;2.56	5.74	5.74	0.90152	.	0.199295	0.35013	N	0.003513	T	0.24661	0.0598	N	0.14661	0.345	0.23969	N	0.996316	B;B;B;B	0.11235	0.002;0.004;0.002;0.003	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.17410	-1.0370	10	0.51188	T	0.08	-12.4177	6.1771	0.20449	0.755:0.1643:0.0807:0.0	.	197;247;209;195	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	L	209;195;195;197;247	ENSP00000241071:P209L;ENSP00000353821:P195L;ENSP00000419602:P195L;ENSP00000420239:P197L;ENSP00000416558:P247L	ENSP00000241071:P209L	P	+	2	0	FBXO24	100028409	1.000000	0.71417	0.983000	0.44433	0.127000	0.20565	1.216000	0.32443	1.025000	0.39708	-0.371000	0.07208	CCG		0.567	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			6	35	0	0	0	0.001984	0	6	35				
CDH17	1015	broad.mit.edu	37	8	95182742	95182742	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr8:95182742C>T	ENST00000027335.3	-	9	1073	c.949G>A	c.(949-951)Gga>Aga	p.G317R	CDH17_ENST00000450165.2_Missense_Mutation_p.G317R|CDH17_ENST00000441892.2_Intron	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	317	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.G317R(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			AGTGGTTTTCCGTACTCATCC	0.398																																							uc003ygh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(949-951)GGA>AGA		cadherin 17 precursor							108.0	104.0	106.0					8																	95182742		2203	4300	6503	SO:0001583	missense	1015					integral to membrane	calcium ion binding	g.chr8:95182742C>T	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.949G>A	8.37:g.95182742C>T	ENSP00000027335:p.Gly317Arg					CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Missense_Mutation_p.G317R	p.G317R	NM_004063	NP_004054	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		9	1074	-	Breast(36;4.65e-06)		317			Extracellular (Potential).|Cadherin 3.		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	c.949G>A	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895839	0.33442	.	.	ENSG00000079112	ENST00000027335;ENST00000450165	T;T	0.52983	0.64;0.64	6.06	3.26	0.37387	Cadherin (4);Cadherin-like (1);	0.250565	0.28653	N	0.014589	T	0.64670	0.2619	M	0.83852	2.665	0.21553	N	0.999644	D	0.89917	1.0	D	0.74674	0.984	T	0.55042	-0.8202	10	0.25751	T	0.34	-10.431	8.5592	0.33501	0.0:0.7309:0.128:0.141	.	317	Q12864	CAD17_HUMAN	R	317	ENSP00000027335:G317R;ENSP00000401468:G317R	ENSP00000027335:G317R	G	-	1	0	CDH17	95251918	0.038000	0.19896	0.010000	0.14722	0.015000	0.08874	1.521000	0.35910	0.862000	0.35528	0.650000	0.86243	GGA		0.398	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		8	126	0	0	0	0.006214	0	8	126				
CSMD3	114788	broad.mit.edu	37	8	113563024	113563024	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr8:113563024C>T	ENST00000297405.5	-	27	4684	c.4440G>A	c.(4438-4440)atG>atA	p.M1480I	CSMD3_ENST00000455883.2_Missense_Mutation_p.M1376I|CSMD3_ENST00000343508.3_Missense_Mutation_p.M1440I|CSMD3_ENST00000352409.3_Missense_Mutation_p.M1480I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1480	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.M1480I(1)|p.M1440I(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCTTTAAAAGCATATCATTTT	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(4438-4440)ATG>ATA		CUB and Sushi multiple domains 3 isoform 1							77.0	75.0	76.0					8																	113563024		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113563024C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4440G>A	8.37:g.113563024C>T	ENSP00000297405:p.Met1480Ile	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.M752I|CSMD3_uc003ynt.2_Missense_Mutation_p.M1440I|CSMD3_uc011lhx.1_Missense_Mutation_p.M1376I	p.M1480I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			27	4599	-			1480			Extracellular (Potential).|CUB 8.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4440G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415489	0.62511	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3	4.36	4.36	0.52297	CUB (5);	0.000000	0.85682	D	0.000000	T	0.46619	0.1402	N	0.03294	-0.36	0.42030	D	0.991024	P;P;B	0.50819	0.925;0.939;0.009	P;P;B	0.52343	0.57;0.696;0.007	T	0.55655	-0.8107	10	0.33940	T	0.23	.	17.4138	0.87494	0.0:1.0:0.0:0.0	.	1376;1480;1440	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	1440;1480;820;1376;1480	ENSP00000345799:M1440I;ENSP00000297405:M1480I;ENSP00000341558:M820I;ENSP00000412263:M1376I;ENSP00000343124:M1480I	ENSP00000297405:M1480I	M	-	3	0	CSMD3	113632200	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.748000	0.55142	2.412000	0.81896	0.591000	0.81541	ATG		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		7	69	0	0	0	0.001984	0	7	69				
KDM4C	23081	broad.mit.edu	37	9	6986546	6986546	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr9:6986546G>C	ENST00000381309.3	+	11	2122	c.1557G>C	c.(1555-1557)gaG>gaC	p.E519D	KDM4C_ENST00000536108.1_Missense_Mutation_p.E338D|KDM4C_ENST00000381306.3_Missense_Mutation_p.E519D|KDM4C_ENST00000535193.1_Missense_Mutation_p.E541D|KDM4C_ENST00000428870.2_Missense_Mutation_p.E206D|KDM4C_ENST00000543771.1_Missense_Mutation_p.E519D|KDM4C_ENST00000442236.2_Missense_Mutation_p.E338D	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	519					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)	p.E519D(2)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CAGTGGCAGAGAGTAATGGTG	0.512																																							uc003zkh.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1555-1557)GAG>GAC		jumonji domain containing 2C isoform 1							126.0	114.0	118.0					9																	6986546		2203	4300	6503	SO:0001583	missense	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:6986546G>C	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.1557G>C	9.37:g.6986546G>C	ENSP00000370710:p.Glu519Asp					KDM4C_uc010mhu.2_Missense_Mutation_p.E541D|KDM4C_uc011lmi.1_Missense_Mutation_p.E519D|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Missense_Mutation_p.E519D|KDM4C_uc011lmk.1_Missense_Mutation_p.E338D|KDM4C_uc011lml.1_Missense_Mutation_p.E206D	p.E519D	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN			11	2137	+			519					B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	c.1557G>C	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	G	7.269	0.606702	0.14002	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000536108;ENST00000428870	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.3	2.24	0.28232	.	0.812964	0.11578	N	0.550073	T	0.46288	0.1385	L	0.43152	1.355	0.30493	N	0.771179	D;D;B;P;P	0.65815	0.991;0.995;0.013;0.704;0.867	P;P;B;B;B	0.53102	0.527;0.718;0.011;0.236;0.21	T	0.43589	-0.9382	10	0.35671	T	0.21	-2.136	5.1132	0.14821	0.4636:0.0:0.5364:0.0	.	338;519;541;519;519	E7EV17;F5H347;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;KDM4C_HUMAN;.	D	541;519;519;519;338;338;206	ENSP00000442382:E541D;ENSP00000445427:E519D;ENSP00000370710:E519D;ENSP00000370707:E519D;ENSP00000409353:E338D;ENSP00000440656:E338D;ENSP00000405739:E206D	ENSP00000370707:E519D	E	+	3	2	KDM4C	6976546	0.987000	0.35691	0.728000	0.30774	0.195000	0.23768	0.146000	0.16180	0.788000	0.33755	0.655000	0.94253	GAG		0.512	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		11	41	0	0	0	0.013537	0	11	41				
ZNF484	83744	broad.mit.edu	37	9	95609798	95609798	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr9:95609798T>A	ENST00000375495.3	-	5	1419	c.1271A>T	c.(1270-1272)aAg>aTg	p.K424M	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Missense_Mutation_p.K426M|ZNF484_ENST00000395505.2_Missense_Mutation_p.K388M|ZNF484_ENST00000332591.6_Missense_Mutation_p.K388M	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	424					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K424M(1)		NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						AAAATGTGACTTCCGGATAAA	0.363																																							uc004asu.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1270-1272)AAG>ATG		zinc finger protein 484 isoform a							75.0	77.0	76.0					9																	95609798		2203	4300	6503	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95609798T>A	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.1271A>T	9.37:g.95609798T>A	ENSP00000364645:p.Lys424Met					ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.K426M|ZNF484_uc010mrb.1_Missense_Mutation_p.K388M|ZNF484_uc004asv.1_Missense_Mutation_p.K388M	p.K424M	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN			5	1420	-			424			C2H2-type 6.		B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.1271A>T	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	12.01	1.810898	0.32053	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	2.36	2.36	0.29203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33089	0.0851	M	0.74258	2.255	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.03034	-1.1080	9	0.51188	T	0.08	.	8.6465	0.34009	0.0:0.0:0.0:1.0	.	426;424	B4DRI2;Q5JVG2	.;ZN484_HUMAN	M	388;426;424;388	ENSP00000378881:K388M;ENSP00000378882:K426M;ENSP00000364645:K424M;ENSP00000364646:K388M	ENSP00000364646:K388M	K	-	2	0	ZNF484	94649619	0.000000	0.05858	0.982000	0.44146	0.986000	0.74619	-0.964000	0.03833	1.352000	0.45808	0.446000	0.29264	AAG		0.363	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		24	45	0	0	0	0.01892	0	24	45				
DMD	1756	broad.mit.edu	37	X	32382729	32382729	+	Missense_Mutation	SNP	C	C	G	rs398123979		TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chrX:32382729C>G	ENST00000357033.4	-	36	5330	c.5124G>C	c.(5122-5124)aaG>aaC	p.K1708N	DMD_ENST00000378677.2_Missense_Mutation_p.K1704N	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1708	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.K1703N(1)|p.K1704N(1)|p.K1708N(1)|p.K367N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCTGGGGTTTCTTTTTCTCTG	0.368																																							uc004dda.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(5122-5124)AAG>AAC		dystrophin Dp427m isoform							254.0	220.0	232.0					X																	32382729		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32382729C>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5124G>C	X.37:g.32382729C>G	ENSP00000354923:p.Lys1708Asn					DMD_uc004dcw.2_Missense_Mutation_p.K364N|DMD_uc004dcx.2_Missense_Mutation_p.K367N|DMD_uc004dcz.2_Missense_Mutation_p.K1585N|DMD_uc004dcy.1_Missense_Mutation_p.K1704N|DMD_uc004ddb.1_Missense_Mutation_p.K1700N|DMD_uc010ngo.1_Intron	p.K1708N	NM_004006	NP_003997	P11532	DMD_HUMAN			36	5368	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1708			Spectrin 12.|Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.5124G>C	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819874	0.50633	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.35048	1.33;1.33	5.38	5.38	0.77491	.	0.622611	0.11886	U	0.520019	T	0.36635	0.0974	L	0.59436	1.845	0.80722	D	1	B;B;B;B;B	0.27316	0.062;0.175;0.077;0.033;0.033	B;B;B;B;B	0.30943	0.047;0.122;0.078;0.036;0.036	T	0.13098	-1.0522	10	0.33141	T	0.24	.	9.4181	0.38534	0.0:0.8556:0.0:0.1444	.	1700;1708;1704;367;364	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	N	1700;367;364;1704;1708;1708;1585	ENSP00000367948:K1704N;ENSP00000354923:K1708N	ENSP00000354923:K1708N	K	-	3	2	DMD	32292650	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	4.225000	0.58600	2.371000	0.80710	0.538000	0.68166	AAG		0.368	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		17	107	0	0	0	0.007413	0	17	107				
RB1	5925	broad.mit.edu	37	13	48939032	48939033	+	Frame_Shift_Ins	INS	-	-	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr13:48939032_48939033insA	ENST00000267163.4	+	9	1002_1003	c.864_865insA	c.(865-867)aaafs	p.K289fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	289					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTTTTCAGGTGAAAAATGTTTA	0.287		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		22	Whole gene deletion(15)|Unknown(7)	p.?(6)	bone(11)|breast(5)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358						c.(862-867)GTGAAAfs		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48939032_48939033insA	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.869dupA	13.37:g.48939037_48939037dupA	ENSP00000267163:p.Lys289fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010act.1_5'UTR	p.V288fs	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	9	1030_1031	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	288_289					A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Ins	INS	ENST00000267163.4	37	c.864_865insA	CCDS31973.1																																																																																				0.287	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			4	4	NA	NA	NA	NA	NA	4	4	---	---	---	---
APEH	327	broad.mit.edu	37	3	49723322	49723327	+	IGR	DEL	GCGCTG	GCGCTG	-			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	GCGCTG	GCGCTG	-	-	GCGCTG	GCGCTG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr3:49723322_49723327delGCGCTG	ENST00000296456.5	+	0	3220				MST1_ENST00000449682.2_In_Frame_Del_p.QR406del|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000383728.3_3'UTR|MST1_ENST00000494828.2_5'Flank	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGCGGACCAGCGCTGGCACTGGACA	0.704																																						GBM(110;181 1524 8005 22865 46297)	uc003cxg.2		NA																	0				lung(1)	1						c.(1216-1221)CAGCGCdel		macrophage stimulating 1 (hepatocyte growth																																				SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723322_49723327delGCGCTG	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723322_49723327delGCGCTG						MST1_uc011bcs.1_In_Frame_Del_p.444_446ASA>A	p.QR406del	NM_020998	NP_066278	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	1288_1293	-			392_393			Kringle 4.		Q9BQ33|Q9P0Y2	In_Frame_Del	DEL	ENST00000296456.5	37	c.1216_1221delCAGCGC	CCDS2801.1																																																																																				0.704	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			8	94	NA	NA	NA	NA	NA	8	94	---	---	---	---
PLXNA1	5361	broad.mit.edu	37	3	126736667	126736668	+	Frame_Shift_Ins	INS	-	-	C			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr3:126736667_126736668insC	ENST00000393409.2	+	18	3592_3593	c.3592_3593insC	c.(3592-3594)accfs	p.T1198fs	PLXNA1_ENST00000251772.4_Frame_Shift_Ins_p.T1175fs	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1198	IPT/TIG 4.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CACACCCTGTACCCTCACCGTG	0.649																																							uc003ejg.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(3523-3525)ACCfs		plexin A1																																				SO:0001589	frameshift_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126736667_126736668insC	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3595dupC	3.37:g.126736670_126736670dupC	ENSP00000377061:p.Thr1198fs						p.T1175fs	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	18	3527_3528	+			1198			Extracellular (Potential).|IPT/TIG 4.			Frame_Shift_Ins	INS	ENST00000393409.2	37	c.3523_3524insC	CCDS33847.2																																																																																				0.649	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		25	73	NA	NA	NA	NA	NA	25	73	---	---	---	---
SLC34A2	10568	broad.mit.edu	37	4	25678030	25678031	+	Frame_Shift_Ins	INS	-	-	AA	rs538449848		TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr4:25678030_25678031insAA	ENST00000382051.3	+	13	1782_1783	c.1732_1733insAA	c.(1732-1734)cgcfs	p.R578fs	SLC34A2_ENST00000504570.1_Frame_Shift_Ins_p.R577fs|SLC34A2_ENST00000503434.1_Frame_Shift_Ins_p.R577fs	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	578					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CCTGCAGTCTCGCTGCCCACGC	0.629			T	ROS1	NSCLC																																		uc003grr.2		NA		Dom	yes		4	4p15.2	10568		"""solute carrier family 34 (sodium phosphate), member 2"""			E					0				skin(3)|ovary(1)|kidney(1)	5						c.(1732-1734)CGCfs		solute carrier family 34 (sodium phosphate),																																				SO:0001589	frameshift_variant	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25678030_25678031insAA	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	Exception_encountered	4.37:g.25678030_25678031insAA	ENSP00000371483:p.Arg578fs					SLC34A2_uc003grs.2_Frame_Shift_Ins_p.R577fs|SLC34A2_uc010iev.2_Frame_Shift_Ins_p.R577fs	p.R578fs	NM_006424	NP_006415	O95436	NPT2B_HUMAN			13	1813_1814	+		Breast(46;0.0503)	578			Cytoplasmic (Potential).		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Frame_Shift_Ins	INS	ENST00000382051.3	37	c.1732_1733insAA	CCDS3435.1																																																																																				0.629	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		35	113	NA	NA	NA	NA	NA	35	113	---	---	---	---
ARSI	340075	broad.mit.edu	37	5	149677343	149677343	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr5:149677343delC	ENST00000328668.7	-	2	1723	c.1144delG	c.(1144-1146)gccfs	p.A382fs		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	382					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGTGGTGAGGCCCGGCCCTCG	0.642																																							uc003lrv.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1144-1146)GCCfs		arylsulfatase family, member I precursor							45.0	48.0	47.0					5																	149677343		2203	4299	6502	SO:0001589	frameshift_variant	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149677343delC	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.1144delG	5.37:g.149677343delC	ENSP00000333395:p.Ala382fs						p.A382fs	NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	1733	-			382					A1L3B0|B3KV22|B7XD03	Frame_Shift_Del	DEL	ENST00000328668.7	37	c.1144delG	CCDS34275.1																																																																																				0.642	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		26	136	NA	NA	NA	NA	NA	26	136	---	---	---	---
