#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	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_tumor_sample
CALML6	163688	broad.mit.edu	37	1	1848429	1848429	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:1848429G>T	ENST00000307786.3	+	5	869	c.415G>T	c.(415-417)Gca>Tca	p.A139S	CALML6_ENST00000462293.1_3'UTR	NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN	calmodulin-like 6	139	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCTAATGAACGCAGGGGAGCC	0.667																																						uc001aih.1		NaN																	0					0						c.(415-417)GCA>TCA		calmodulin-like 6							70.0	60.0	63.0					1																	1848429		2203	4298	6501	SO:0001583	missense	163688					cytoplasm|nucleus	calcium ion binding	g.chr1:1848429G>T	AF490905	CCDS30566.1	1p36.33	2013-01-10			ENSG00000169885	ENSG00000169885		"""EF-hand domain containing"""	24193	protein-coding gene	gene with protein product		610171					Standard	NM_138705		Approved	CAGLP	uc001aih.1	Q8TD86	OTTHUMG00000000943	ENST00000307786.3:c.415G>T	1.37:g.1848429G>T	ENSP00000304643:p.Ala139Ser						p.A139S	NM_138705	NP_619650	Q8TD86	CALL6_HUMAN		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	5	869	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	139			EF-hand 3.		A2A2M3|Q6Q2C4	Missense_Mutation	SNP	ENST00000307786.3	37	c.415G>T	CCDS30566.1	.	.	.	.	.	.	.	.	.	.	.	6.955	0.545986	0.13312	.	.	ENSG00000169885	ENST00000307786;ENST00000378604	T;T	0.37235	1.21;1.21	3.33	1.34	0.21922	EF-hand-like domain (1);	.	.	.	.	T	0.20007	0.0481	N	0.13235	0.315	0.09310	N	1	B	0.17667	0.023	B	0.20184	0.028	T	0.23583	-1.0184	9	0.87932	D	0	.	4.3465	0.11134	0.1353:0.2373:0.6274:0.0	.	139	Q8TD86	CALL6_HUMAN	S	139;122	ENSP00000304643:A139S;ENSP00000367867:A122S	ENSP00000304643:A139S	A	+	1	0	CALML6	1838289	0.001000	0.12720	0.000000	0.03702	0.075000	0.17131	0.435000	0.21510	0.217000	0.20800	0.313000	0.20887	GCA		0.667	CALML6-004	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276929.1		NM_138705		20	43	1	0	8.34094e-07	0.049695	8.73136e-07	20	43		
ACOT7	11332	broad.mit.edu	37	1	6445578	6445578	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:6445578G>C	ENST00000377855.2	-	1	295	c.149C>G	c.(148-150)cCc>cGc	p.P50R	ACOT7_ENST00000361521.4_Intron|ACOT7_ENST00000545482.1_Intron|ACOT7_ENST00000608083.1_Intron	NM_181864.2	NP_863654.1	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	50					coenzyme A biosynthetic process (GO:0015937)|fatty acid catabolic process (GO:0009062)|long-chain fatty-acyl-CoA catabolic process (GO:0036116)|medium-chain fatty acid biosynthetic process (GO:0051792)|medium-chain fatty-acyl-CoA catabolic process (GO:0036114)|palmitic acid biosynthetic process (GO:1900535)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)	carboxylic ester hydrolase activity (GO:0052689)|fatty-acyl-CoA binding (GO:0000062)|long-chain fatty acyl-CoA binding (GO:0036042)|palmitoyl-CoA hydrolase activity (GO:0016290)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		GGCTCCACAGGGTGGGAGATC	0.652																																					GBM(74;673 1226 4974 11850 13190)	uc001ams.2		NaN																	0					0						c.(148-150)CCC>CGC		acyl-CoA thioesterase 7 isoform hBACHb							97.0	102.0	100.0					1																	6445578		2203	4299	6502	SO:0001583	missense	11332					mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity	g.chr1:6445578G>C	AB074417	CCDS65.1, CCDS66.1, CCDS67.1, CCDS30573.1	1p36	2008-08-14			ENSG00000097021	ENSG00000097021		"""Acyl CoA thioesterases"""	24157	protein-coding gene	gene with protein product	"""brain acyl CoA hydrolase"""	602587				10578051, 16103133, 16940157	Standard	XM_005263427		Approved	BACH, ACH1, ACT, CTE-II, LACH1, MGC1126, hBACH	uc001amt.3	O00154	OTTHUMG00000001295	ENST00000377855.2:c.149C>G	1.37:g.6445578G>C	ENSP00000367086:p.Pro50Arg					ACOT7_uc010nzq.1_Intron|ACOT7_uc001amt.2_Intron|ACOT7_uc001amu.2_Intron|ACOT7_uc001amv.2_Intron	p.P50R	NM_181864	NP_863654	O00154	BACH_HUMAN		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)	1	306	-	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)	50					A8K0K7|A8K232|A8K6B8|A8K837|B3KQ12|O43703|Q53Y78|Q5JYL2|Q5JYL3|Q5JYL4|Q5JYL5|Q5JYL6|Q5TGR4|Q9UJM9|Q9Y539|Q9Y540	Missense_Mutation	SNP	ENST00000377855.2	37	c.149C>G	CCDS65.1	.	.	.	.	.	.	.	.	.	.	G	9.762	1.170472	0.21621	.	.	ENSG00000097021	ENST00000377855	T	0.32753	1.44	3.31	-6.62	0.01813	.	5.136200	0.01220	U	0.008092	T	0.19446	0.0467	L	0.36672	1.1	0.09310	N	0.999998	B	0.12013	0.005	B	0.08055	0.003	T	0.10870	-1.0611	10	0.19147	T	0.46	.	4.4556	0.11642	0.4923:0.0:0.1875:0.3202	.	50	O00154	BACH_HUMAN	R	50	ENSP00000367086:P50R	ENSP00000367086:P50R	P	-	2	0	ACOT7	6368165	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.913000	0.01580	-1.788000	0.01266	0.462000	0.41574	CCC		0.652	ACOT7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003773.1		NM_007274		90	154	0	0	0	0.048971	0	90	154		
GRIK3	2899	broad.mit.edu	37	1	37319237	37319237	+	Silent	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:37319237C>A	ENST00000373091.3	-	8	1207	c.1191G>T	c.(1189-1191)ctG>ctT	p.L397L	GRIK3_ENST00000373093.4_Silent_p.L397L|GRIK3_ENST00000462621.1_5'UTR	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	397					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CATCCTCTTTCAGGCTGATGA	0.542																																						uc001caz.2		NaN																	0				ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(1189-1191)CTG>CTT		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						86.0	82.0	83.0					1																	37319237		2203	4300	6503	SO:0001819	synonymous_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37319237C>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1191G>T	1.37:g.37319237C>A						GRIK3_uc001cba.1_Silent_p.L397L	p.L397L	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			8	1326	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	397			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	c.1191G>T	CCDS416.1																																																																																				0.542	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1		NM_000831		28	41	1	0	1.42536e-11	0.099896	1.53788e-11	28	41		
LRRC7	57554	broad.mit.edu	37	1	70488833	70488833	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:70488833G>A	ENST00000035383.5	+	15	1486	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K	RP11-181B18.1_ENST00000425754.1_RNA|LRRC7_ENST00000415775.2_Intron|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000310961.5_Missense_Mutation_p.E491K	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	486						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGCCCCCTGGGAAAGGGGCCA	0.517																																						uc001dep.2		NaN																	0				ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(1456-1458)GAA>AAA		leucine rich repeat containing 7							48.0	45.0	46.0					1																	70488833		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70488833G>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1456G>A	1.37:g.70488833G>A	ENSP00000035383:p.Glu486Lys					LRRC7_uc009wbg.2_Intron	p.E486K	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			15	1486	+			486					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.1456G>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617248	0.46736	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.37235	1.21;1.28	5.7	4.77	0.60923	.	0.187030	0.44285	D	0.000467	T	0.06645	0.0170	N	0.08118	0	0.80722	D	1	B	0.12013	0.005	B	0.14023	0.01	T	0.18493	-1.0335	10	0.08381	T	0.77	.	10.9366	0.47249	0.0876:0.0:0.9124:0.0	.	486	Q96NW7	LRRC7_HUMAN	K	491;486;309	ENSP00000309245:E491K;ENSP00000035383:E486K	ENSP00000035383:E486K	E	+	1	0	LRRC7	70261421	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.925000	0.48884	1.387000	0.46486	0.460000	0.39030	GAA		0.517	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1		NM_020794		18	71	0	0	0	0.038395	0	18	71		
LRRC40	55631	broad.mit.edu	37	1	70616831	70616831	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:70616831C>T	ENST00000370952.3	-	13	1576	c.1497G>A	c.(1495-1497)acG>acA	p.T499T		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	499						membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						AAAGATTGATCGTTTGCAGTC	0.294																																						uc001der.1		NaN																	0				ovary(1)	1						c.(1495-1497)ACG>ACA		leucine rich repeat containing 40							58.0	58.0	58.0					1																	70616831		2200	4294	6494	SO:0001819	synonymous_variant	55631							g.chr1:70616831C>T		CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.1497G>A	1.37:g.70616831C>T							p.T499T	NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN			13	1549	-			499			LRR 17.		Q9BTR7|Q9NSK1|Q9NXC1	Silent	SNP	ENST00000370952.3	37	c.1497G>A	CCDS646.1																																																																																				0.294	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1		NM_017768		6	22	0	0	0	0.038147	0	6	22		
KCNA10	3744	broad.mit.edu	37	1	111061072	111061072	+	Missense_Mutation	SNP	C	C	T	rs141128096		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:111061072C>T	ENST00000369771.2	-	1	725	c.338G>A	c.(337-339)gGa>gAa	p.G113E		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	113					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	TTCCCGGTCTCCCAGGAGAGT	0.458																																						uc001dzt.1		NaN																	0				ovary(3)|large_intestine(1)	4						c.(337-339)GGA>GAA		potassium voltage-gated channel, shaker-related		C	GLU/GLY	1,4405	2.1+/-5.4	0,1,2202	70.0	73.0	72.0		338	5.9	1.0	1	dbSNP_134	72	0,8600		0,0,4300	no	missense	KCNA10	NM_005549.2	98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	113/512	111061072	1,13005	2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111061072C>T	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.338G>A	1.37:g.111061072C>T	ENSP00000358786:p.Gly113Glu						p.G113E	NM_005549	NP_005540	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	726	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	113						Missense_Mutation	SNP	ENST00000369771.2	37	c.338G>A	CCDS826.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011838	0.75046	2.27E-4	0.0	ENSG00000143105	ENST00000369771	T	0.78003	-1.14	5.86	5.86	0.93980	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.90755	0.7098	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92299	0.5848	10	0.87932	D	0	.	18.7459	0.91792	0.0:1.0:0.0:0.0	.	113	Q16322	KCA10_HUMAN	E	113	ENSP00000358786:G113E	ENSP00000358786:G113E	G	-	2	0	KCNA10	110862595	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.815000	0.86186	2.761000	0.94854	0.655000	0.94253	GGA		0.458	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1		NM_005549		21	44	0	0	0	0.055883	0	21	44		
SEC22B	9554	broad.mit.edu	37	1	145103968	145103968	+	RNA	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:145103968G>A	ENST00000453618.1	+	0	463							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											AAAGTTGAATGAACAGTCCCC	0.383																																						uc001eml.1		NaN																	0					0						c.(136-138)GAA>AAA		SEC22 vesicle trafficking protein homolog B							81.0	76.0	78.0					1																	145103968		1949	4149	6098			9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145103968G>A	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145103968G>A						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron	p.E46K	NM_004892	NP_004883	O75396	SC22B_HUMAN			4	276	+			46			Longin.|Cytoplasmic (Potential).		A8K1G0	Missense_Mutation	SNP	ENST00000453618.1	37	c.136G>A																																																																																					0.383	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5		NM_004892		16	33	0	0	0	0.0333	0	16	33		
FLG	2312	broad.mit.edu	37	1	152283577	152283577	+	Missense_Mutation	SNP	G	G	C	rs190350842		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:152283577G>C	ENST00000368799.1	-	3	3820	c.3785C>G	c.(3784-3786)aCa>aGa	p.T1262R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1262	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCCTGCTTGTCCTGGACCC	0.567									Ichthyosis				G|||	1	0.000199681	0.0	0.0014	5008	,	,		20392	0.0		0.0	False		,,,				2504	0.0					uc001ezu.1		NaN																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(3784-3786)ACA>AGA		filaggrin		G	ARG/THR	0,4406		0,0,2203	268.0	253.0	258.0		3785	1.1	0.0	1		258	1,8599	1.2+/-3.3	0,1,4299	no	missense	FLG	NM_002016.1	71	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging	1262/4062	152283577	1,13005	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283577G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3785C>G	1.37:g.152283577G>C	ENSP00000357789:p.Thr1262Arg					uc001ezv.2_5'Flank	p.T1262R	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3821	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1262			Ser-rich.|Filaggrin 7.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.3785C>G	CCDS30860.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	3.278	-0.147639	0.06627	0.0	1.16E-4	ENSG00000143631	ENST00000368799	T	0.04083	3.71	2.35	1.13	0.20643	.	.	.	.	.	T	0.01320	0.0043	L	0.31294	0.92	0.09310	N	1	D	0.59357	0.985	P	0.48815	0.591	T	0.32903	-0.9889	9	0.11794	T	0.64	.	3.79	0.08716	0.3389:0.0:0.6611:0.0	.	1262	P20930	FILA_HUMAN	R	1262	ENSP00000357789:T1262R	ENSP00000357789:T1262R	T	-	2	0	FLG	150550201	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-0.737000	0.04877	0.169000	0.19679	0.399000	0.26434	ACA		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		87	771	0	0	0	0.048971	0	87	771		
FLG2	388698	broad.mit.edu	37	1	152324511	152324511	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:152324511C>G	ENST00000388718.5	-	3	5823	c.5751G>C	c.(5749-5751)aaG>aaC	p.K1917N	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1917					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTGGTGTCTCTTGTGAACTG	0.502																																						uc001ezw.3		NaN																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(5749-5751)AAG>AAC		filaggrin family member 2							367.0	330.0	343.0					1																	152324511		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152324511C>G	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5751G>C	1.37:g.152324511C>G	ENSP00000373370:p.Lys1917Asn					uc001ezv.2_Intron	p.K1917N	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5824	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1917					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.5751G>C	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	5.205	0.223383	0.09863	.	.	ENSG00000143520	ENST00000388718	T	0.04119	3.7	2.21	-4.41	0.03590	.	.	.	.	.	T	0.00524	0.0017	N	0.03608	-0.345	0.09310	N	1	P	0.44090	0.826	B	0.37144	0.242	T	0.44711	-0.9310	9	0.23302	T	0.38	4.0046	5.3997	0.16288	0.0:0.2557:0.4975:0.2469	.	1917	Q5D862	FILA2_HUMAN	N	1917	ENSP00000373370:K1917N	ENSP00000373370:K1917N	K	-	3	2	FLG2	150591135	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-1.242000	0.02523	-1.126000	0.01995	AAG		0.502	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5		NM_001014342		70	546	0	0	0	0.048971	0	70	546		
MUC1	4582	broad.mit.edu	37	1	155161799	155161799	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:155161799T>G	ENST00000368395.1	-	2	405	c.334A>C	c.(334-336)Acc>Ccc	p.T112P	MUC1_ENST00000368392.3_Intron|RP11-201K10.3_ENST00000473363.2_5'Flank|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000338684.5_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	892					cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|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)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription by competitive promoter binding (GO:0010944)|O-glycan processing (GO:0016266)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|post-translational protein modification (GO:0043687)|regulation of transcription from RNA polymerase II promoter in response to stress (GO:0043618)|response to hypoxia (GO:0001666)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|nuclear chromatin (GO:0000790)|vesicle (GO:0031982)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGCGGGGTGGTGGAGCCC	0.711			T	IGH@	B-NHL																																	uc010pft.1		NaN		Dom	yes		1	1q21	4582	T	"""mucin 1, transmembrane"""			L	IGH@		B-NHL		0				large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4						c.(334-336)ACC>CCC		SubName: Full=MUC1 isoform M13;																																				SO:0001583	missense	4582					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding	g.chr1:155161799T>G	J05581	CCDS1098.1, CCDS30882.1, CCDS30883.1, CCDS41408.1, CCDS41409.1, CCDS55640.1, CCDS55641.1, CCDS55642.1, CCDS55640.2, CCDS72933.1, CCDS72934.1, CCDS72935.1, CCDS72936.1	1q22	2014-01-31	2006-03-14		ENSG00000185499	ENSG00000185499		"""CD molecules"", ""Mucins"""	7508	protein-coding gene	gene with protein product		158340	"""mucin 1, transmembrane"", ""medullary cystic kidney disease 1 (autosomal dominant)"""	PUM, MCKD1		1697589, 23396133	Standard	NM_002456		Approved	CD227, PEM, ADMCKD, ADMCKD1, MCKD, MCD	uc031ppv.1	P15941	OTTHUMG00000035681	ENST00000368395.1:c.334A>C	1.37:g.155161799T>G	ENSP00000357380:p.Thr112Pro					RAG1AP1_uc010pey.1_Intron|MUC1_uc001fhy.2_5'Flank|MUC1_uc001fhz.2_5'Flank|MUC1_uc010pfb.1_Intron|MUC1_uc010pfc.1_Intron|MUC1_uc009wph.2_Intron|MUC1_uc010pfd.1_Intron|MUC1_uc010pfe.1_Intron|MUC1_uc010pff.1_Intron|MUC1_uc009wpi.2_Intron|MUC1_uc010pfg.1_Intron|MUC1_uc010pfh.1_Intron|MUC1_uc010pfi.1_Intron|MUC1_uc010pfj.1_Intron|MUC1_uc010pfk.1_Intron|MUC1_uc010pfl.1_Intron|MUC1_uc001fin.2_Intron|MUC1_uc009wpk.2_Intron|MUC1_uc001fip.2_Intron|MUC1_uc009wqg.2_Intron|MUC1_uc009wpo.2_Intron|MUC1_uc009wps.2_Intron|MUC1_uc009wpt.2_Intron|MUC1_uc001fic.2_Intron|MUC1_uc009wpu.2_Intron|MUC1_uc009wpq.2_Intron|MUC1_uc009wpv.2_Intron|MUC1_uc001fim.2_Intron|MUC1_uc001fib.2_Intron|MUC1_uc009wpw.2_Intron|MUC1_uc001fie.2_Intron|MUC1_uc009wpr.2_Intron|MUC1_uc001fig.2_Intron|MUC1_uc001fif.2_Intron|MUC1_uc009wpx.2_Intron|MUC1_uc001fid.2_Intron|MUC1_uc009wpj.2_Intron|MUC1_uc001fij.2_Intron|MUC1_uc009wpy.2_Intron|MUC1_uc010pfm.1_Intron|MUC1_uc001fiq.2_Intron|MUC1_uc009wpz.2_Intron|MUC1_uc010pfn.1_Intron|MUC1_uc009wqa.2_Intron|MUC1_uc010pfo.1_Intron|MUC1_uc010pfp.1_Intron|MUC1_uc001fii.2_Intron|MUC1_uc001fih.2_Intron|MUC1_uc001fia.2_Intron|MUC1_uc009wqc.2_Intron|MUC1_uc009wqd.2_Intron|MUC1_uc009wqb.2_Intron|MUC1_uc010pfq.1_Intron|MUC1_uc010pfr.1_Intron|MUC1_uc001fit.2_Intron|MUC1_uc009wqe.2_Intron|MUC1_uc001fil.2_Intron|MUC1_uc009wpm.2_Intron|MUC1_uc009wpp.2_Intron|MUC1_uc010pfs.1_Intron|MUC1_uc001fik.2_Intron|MUC1_uc001fio.2_Intron|MUC1_uc009wqf.2_Intron|MUC1_uc009wpl.2_Intron|MUC1_uc009wpn.2_Intron|MUC1_uc001fis.1_Intron|uc009wqh.2_5'Flank|MUC1_uc001fiv.1_Missense_Mutation_p.T121P|MUC1_uc001fiw.1_Missense_Mutation_p.T112P	p.T112P			P15941	MUC1_HUMAN	Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	400	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		112			Extracellular (Potential).|3.		A5YRV1|A6ZID9|A6ZIE0|B1AVQ8|B1AVR0|B6ECA1|E7ESE5|E7EUG9|P13931|P15942|P17626|Q0VAP5|Q0VAP6|Q14128|Q14876|Q16437|Q16442|Q16615|Q6S4Y3|Q7Z547|Q7Z548|Q7Z550|Q7Z552|Q9BXA4|Q9UE75|Q9UE76|Q9UQL1|Q9Y4J2	Missense_Mutation	SNP	ENST00000368395.1	37	c.334A>C	CCDS55640.1	.	.	.	.	.	.	.	.	.	.	T	8.249	0.808546	0.16467	.	.	ENSG00000185499	ENST00000368395;ENST00000425082	T	0.20200	2.09	2.73	0.35	0.16037	.	2.188600	0.02617	N	0.102742	T	0.11024	0.0269	N	0.14661	0.345	0.09310	N	0.999999	D	0.65815	0.995	D	0.68483	0.958	T	0.17684	-1.0361	10	0.39692	T	0.17	.	3.1844	0.06596	0.0:0.2782:0.2183:0.5034	.	112	P15941	MUC1_HUMAN	P	112	ENSP00000357380:T112P	ENSP00000357380:T112P	T	-	1	0	MUC1	153428423	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.417000	0.07088	0.027000	0.15297	-1.038000	0.02383	ACC		0.711	MUC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086735.1		NM_002456		16	62	0	0	0	0.099896	0	16	62		
IQGAP3	128239	broad.mit.edu	37	1	156500962	156500962	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:156500962G>A	ENST00000361170.2	-	33	4191	c.4181C>T	c.(4180-4182)tCc>tTc	p.S1394F	snoU13_ENST00000458777.1_RNA	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1394					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTGCTCTCTGGAAGCCGAGAG	0.582																																						uc001fpf.2		NaN																	0				ovary(5)|skin(1)	6						c.(4180-4182)TCC>TTC		IQ motif containing GTPase activating protein 3							137.0	128.0	131.0					1																	156500962		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156500962G>A	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.4181C>T	1.37:g.156500962G>A	ENSP00000354451:p.Ser1394Phe						p.S1394F	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			33	4256	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1394					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.4181C>T	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511226	0.64522	.	.	ENSG00000183856	ENST00000361170	T	0.44881	0.91	4.68	4.68	0.58851	.	0.069246	0.64402	D	0.000012	T	0.40886	0.1135	M	0.78049	2.395	0.09310	N	0.999998	D	0.53885	0.963	P	0.46585	0.521	T	0.39761	-0.9598	10	0.87932	D	0	-6.0017	16.6891	0.85316	0.0:0.0:1.0:0.0	.	1394	Q86VI3	IQGA3_HUMAN	F	1394	ENSP00000354451:S1394F	ENSP00000354451:S1394F	S	-	2	0	IQGAP3	154767586	0.877000	0.30153	0.115000	0.21578	0.795000	0.44927	4.682000	0.61671	2.574000	0.86865	0.655000	0.94253	TCC		0.582	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1		NM_178229		42	267	0	0	0	0.048971	0	42	267		
CD1E	913	broad.mit.edu	37	1	158325145	158325145	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:158325145C>T	ENST00000368167.3	+	3	650	c.411C>T	c.(409-411)ttC>ttT	p.F137F	CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000444681.2_Silent_p.F38F|CD1E_ENST00000434258.1_Silent_p.F135F|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368160.3_Silent_p.F137F|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368161.3_Silent_p.F137F|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368163.3_Silent_p.F137F	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	137					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CACAAATCTTCTTAAATATGG	0.463																																						uc001fse.2		NaN																	0				skin(3)	3						c.(409-411)TTC>TTT		CD1E antigen isoform a precursor							125.0	120.0	121.0					1																	158325145		1823	4079	5902	SO:0001819	synonymous_variant	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158325145C>T	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.411C>T	1.37:g.158325145C>T						CD1E_uc010pid.1_Silent_p.F135F|CD1E_uc010pie.1_Silent_p.F38F|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Silent_p.F137F|CD1E_uc001fsk.2_Intron|CD1E_uc001fsj.2_Intron|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Silent_p.F137F|CD1E_uc001fry.2_Silent_p.F137F|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Silent_p.F137F|CD1E_uc009wsv.2_Silent_p.F38F|CD1E_uc001frz.2_Intron|CD1E_uc009wsw.2_5'Flank	p.F137F	NM_030893	NP_112155	P15812	CD1E_HUMAN			3	650	+	all_hematologic(112;0.0378)		137					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Silent	SNP	ENST00000368167.3	37	c.411C>T	CCDS41417.1																																																																																				0.463	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3		NM_030893		43	257	0	0	0	0.11126	0	43	257		
F5	2153	broad.mit.edu	37	1	169505755	169505755	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:169505755C>T	ENST00000367797.3	-	14	5161	c.4960G>A	c.(4960-4962)Gat>Aat	p.D1654N	F5_ENST00000367796.3_Missense_Mutation_p.D1659N	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1654	F5/8 type A 3.|Plastocyanin-like 5.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TGGATAACATCATCCACTTCA	0.458																																						uc001ggg.1		NaN																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(4960-4962)GAT>AAT		coagulation factor V precursor	Drotrecogin alfa(DB00055)						83.0	78.0	80.0					1																	169505755		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169505755C>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4960G>A	1.37:g.169505755C>T	ENSP00000356771:p.Asp1654Asn						p.D1654N	NM_000130	NP_000121	P12259	FA5_HUMAN			14	5105	-	all_hematologic(923;0.208)		1654			F5/8 type A 3.|Plastocyanin-like 5.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.4960G>A	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637741	0.87760	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99429	-5.89;-5.89	5.0	5.0	0.66597	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.110387	0.64402	D	0.000006	D	0.99729	0.9894	H	0.95402	3.665	0.30389	N	0.7811589999999999	D	0.89917	1.0	D	0.87578	0.998	D	0.97347	0.9961	9	0.87932	D	0	-22.627	18.6695	0.91506	0.0:1.0:0.0:0.0	.	1654	P12259	FA5_HUMAN	N	1654;1659	ENSP00000356771:D1654N;ENSP00000356770:D1659N	ENSP00000356770:D1659N	D	-	1	0	F5	167772379	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.783000	0.55409	2.472000	0.83506	0.655000	0.94253	GAT		0.458	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1		NM_000130		5	26	0	0	0	0.021553	0	5	26		
BRINP3	339479	broad.mit.edu	37	1	190067739	190067739	+	Silent	SNP	A	A	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:190067739A>C	ENST00000367462.3	-	8	1941	c.1710T>G	c.(1708-1710)gcT>gcG	p.A570A	BRINP3_ENST00000534846.1_Silent_p.A468A	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	570					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											TGACATAAACAGCCAACACTG	0.453																																						uc001gse.1		NaN																	0				lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1708-1710)GCT>GCG		family with sequence similarity 5, member C							81.0	87.0	85.0					1																	190067739		2203	4300	6503	SO:0001819	synonymous_variant	339479					extracellular region		g.chr1:190067739A>C	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1710T>G	1.37:g.190067739A>C						FAM5C_uc010pot.1_Silent_p.A468A	p.A570A	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	1942	-	Prostate(682;0.198)		570					B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	c.1710T>G	CCDS1373.1																																																																																				0.453	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1		NM_199051		5	125	0	0	0	0.014758	0	5	125		
CD34	947	broad.mit.edu	37	1	208072507	208072507	+	Silent	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:208072507A>G	ENST00000310833.7	-	3	648	c.327T>C	c.(325-327)tcT>tcC	p.S109S	CD34_ENST00000356522.4_Silent_p.S109S|CD34_ENST00000537704.1_Intron|CD34_ENST00000485761.1_5'Flank	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	109					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						GTGACTGGACAGAAGAGTTTG	0.468																																						uc001hgw.1		NaN																	0				ovary(1)	1						c.(325-327)TCT>TCC		CD34 antigen isoform a							242.0	221.0	228.0					1																	208072507		2203	4300	6503	SO:0001819	synonymous_variant	947				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	g.chr1:208072507A>G	M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.327T>C	1.37:g.208072507A>G						CD34_uc001hgx.1_Silent_p.S109S|CD34_uc010psj.1_Intron	p.S109S	NM_001025109	NP_001020280	P28906	CD34_HUMAN			3	585	-			109			Extracellular (Potential).		A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Silent	SNP	ENST00000310833.7	37	c.327T>C	CCDS31011.1																																																																																				0.468	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1		NM_001773		130	64	0	0	0	0.048971	0	130	64		
DISP1	84976	broad.mit.edu	37	1	223177436	223177436	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:223177436G>A	ENST00000284476.6	+	8	2861	c.2697G>A	c.(2695-2697)agG>agA	p.R899R		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	899					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AGCTGGAAAGGAGTACAGGGT	0.493																																						uc001hnu.1		NaN																	0					0						c.(2695-2697)AGG>AGA		dispatched A							65.0	68.0	67.0					1																	223177436		2203	4300	6503	SO:0001819	synonymous_variant	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223177436G>A	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.2697G>A	1.37:g.223177436G>A							p.R899R	NM_032890	NP_116279	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	2844	+			899					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	ENST00000284476.6	37	c.2697G>A	CCDS1536.1																																																																																				0.493	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1		NM_032890		27	45	0	0	0	0.108266	0	27	45		
SUSD4	55061	broad.mit.edu	37	1	223465953	223465953	+	Silent	SNP	G	G	A	rs577114146		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:223465953G>A	ENST00000343846.3	-	2	822	c.189C>T	c.(187-189)ccC>ccT	p.P63P	SUSD4_ENST00000366878.4_Silent_p.P63P|SUSD4_ENST00000494793.2_Silent_p.P63P|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000344029.6_Silent_p.P63P|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000484758.2_Intron			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	63	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AGCCATTCTCGGGAATGCCGG	0.517																																						uc001hnx.2		NaN																	0					0						c.(187-189)CCC>CCT		sushi domain containing 4 isoform a							61.0	69.0	67.0					1																	223465953		2203	4300	6503	SO:0001819	synonymous_variant	55061					integral to membrane		g.chr1:223465953G>A	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.189C>T	1.37:g.223465953G>A						SUSD4_uc001hny.3_Silent_p.P63P|SUSD4_uc010puw.1_5'UTR|SUSD4_uc001hnz.2_Silent_p.P63P|SUSD4_uc010pux.1_Intron	p.P63P	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	2	823	-			63			Sushi 1.|Extracellular (Potential).		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Silent	SNP	ENST00000343846.3	37	c.189C>T	CCDS41471.1																																																																																				0.517	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2		NM_017982		47	32	0	0	0	0.048971	0	47	32		
RGS7	6000	broad.mit.edu	37	1	241099994	241099994	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:241099994T>C	ENST00000407727.1	-	4	238	c.239A>G	c.(238-240)cAt>cGt	p.H80R	RGS7_ENST00000366563.1_Missense_Mutation_p.H80R|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000331110.7_Missense_Mutation_p.H54R|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000366562.4_Missense_Mutation_p.H80R|RGS7_ENST00000366565.1_Missense_Mutation_p.H80R|RGS7_ENST00000366564.1_Missense_Mutation_p.H80R|RGS7_ENST00000401882.1_Intron			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	80	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TGTTCCCAAATGGAGCGCCTC	0.383																																						uc001hyv.2		NaN																	0				ovary(4)|skin(2)|kidney(1)	7						c.(238-240)CAT>CGT		regulator of G-protein signaling 7							72.0	79.0	77.0					1																	241099994		2203	4300	6503	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:241099994T>C	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.239A>G	1.37:g.241099994T>C	ENSP00000384428:p.His80Arg					RGS7_uc010pyh.1_Missense_Mutation_p.H54R|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Missense_Mutation_p.H80R|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Missense_Mutation_p.H80R	p.H80R	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		5	569	-		all_cancers(173;0.0131)	80			DEP.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.239A>G		.	.	.	.	.	.	.	.	.	.	T	22.9	4.354044	0.82243	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000366562;ENST00000407727	T;T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03;2.03	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.46347	0.1388	M	0.73319	2.225	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.991	T	0.44452	-0.9327	10	0.59425	D	0.04	-1.3729	14.8302	0.70142	0.0:0.0:0.0:1.0	.	54;80;80;80	B7Z257;P49802-2;P49802-5;P49802-3	.;.;.;.	R	54;80;80;80;80;80	ENSP00000331485:H54R;ENSP00000355523:H80R;ENSP00000355522:H80R;ENSP00000355521:H80R;ENSP00000355520:H80R;ENSP00000384428:H80R	ENSP00000331485:H54R	H	-	2	0	RGS7	239166617	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.817000	0.86213	2.097000	0.63578	0.460000	0.39030	CAT		0.383	RGS7-204	KNOWN	basic	protein_coding	protein_coding			NM_002924		24	49	0	0	0	0.083992	0	24	49		
OR2M2	391194	broad.mit.edu	37	1	248343646	248343646	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:248343646A>G	ENST00000359682.2	+	1	359	c.359A>G	c.(358-360)tAt>tGt	p.Y120C		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTTATGGCTTATGACCGCTAT	0.413																																						uc010pzf.1		NaN																	0				ovary(3)|skin(1)	4						c.(358-360)TAT>TGT		olfactory receptor, family 2, subfamily M,							203.0	215.0	211.0					1																	248343646		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343646A>G	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.359A>G	1.37:g.248343646A>G	ENSP00000352710:p.Tyr120Cys						p.Y120C	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	359	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		120			Helical; Name=3; (Potential).		A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.359A>G	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	a	11.96	1.793150	0.31685	.	.	ENSG00000198601	ENST00000359682	T	0.00490	7.03	2.03	-1.21	0.09524	GPCR, rhodopsin-like superfamily (1);	0.000000	0.28706	U	0.014405	T	0.01489	0.0048	M	0.93808	3.46	0.23754	N	0.996938	D	0.89917	1.0	D	0.97110	1.0	T	0.26815	-1.0092	10	0.66056	D	0.02	.	6.575	0.22560	0.6164:0.0:0.0:0.3835	.	120	Q96R28	OR2M2_HUMAN	C	120	ENSP00000352710:Y120C	ENSP00000352710:Y120C	Y	+	2	0	OR2M2	246410269	0.157000	0.22836	0.022000	0.16811	0.004000	0.04260	0.746000	0.26275	-0.425000	0.07371	-0.731000	0.03576	TAT		0.413	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2		NM_001004688		53	215	0	0	0	0.048971	0	53	215		
PITRM1	10531	broad.mit.edu	37	10	3180309	3180309	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr10:3180309C>T	ENST00000224949.4	-	27	3062	c.3028G>A	c.(3028-3030)Ggc>Agc	p.G1010S	PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000451104.2_Missense_Mutation_p.G912S|PITRM1_ENST00000380994.1_Missense_Mutation_p.G568S|PITRM1_ENST00000380989.2_Missense_Mutation_p.G1011S			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	1010					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TTCCCAGTGCCGAGGTATCTG	0.607																																						uc010qah.1		NaN																	0				pancreas(1)	1						c.(2734-2736)GGC>AGC		SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA;							46.0	50.0	48.0					10																	3180309		2131	4239	6370	SO:0001583	missense	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3180309C>T	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.3028G>A	10.37:g.3180309C>T	ENSP00000224949:p.Gly1010Ser					PITRM1_uc001igr.1_3'UTR|PITRM1_uc001igs.1_Missense_Mutation_p.G115S|PITRM1_uc001igt.1_Missense_Mutation_p.G1010S	p.G912S			E7ES23	E7ES23_HUMAN			24	2766	-			912					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	c.2734G>A	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	c	0.986	-0.695611	0.03279	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104	T;T;T;T	0.08458	3.09;3.09;3.09;3.09	5.83	3.83	0.44106	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.312185	0.39083	N	0.001462	T	0.04452	0.0122	N	0.16656	0.425	0.09310	N	1	B;B;B	0.20052	0.013;0.002;0.041	B;B;B	0.15484	0.004;0.001;0.013	T	0.43114	-0.9411	10	0.09338	T	0.73	-33.1339	9.5174	0.39113	0.1401:0.7868:0.0:0.0732	.	912;1010;945	E7ES23;Q5JRX3;E9PDX7	.;PREP_HUMAN;.	S	1010;1003;1011;568;912	ENSP00000224949:G1010S;ENSP00000370377:G1011S;ENSP00000370382:G568S;ENSP00000401201:G912S	ENSP00000224949:G1010S	G	-	1	0	PITRM1	3170309	0.093000	0.21703	0.275000	0.24674	0.021000	0.10359	2.271000	0.43364	2.759000	0.94783	0.561000	0.74099	GGC		0.607	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2				5	6	0	0	0	0.021553	0	5	6		
CDH23	64072	broad.mit.edu	37	10	73571082	73571082	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr10:73571082A>G	ENST00000224721.6	+	62	9108	c.9103A>G	c.(9103-9105)Atg>Gtg	p.M3035V	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.M790V	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3030					calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGTGATCCAGATGATCGATGA	0.592																																						uc001jrx.3		NaN																	0				central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(9088-9090)ATG>GTG		cadherin-like 23 isoform 1 precursor							69.0	79.0	76.0					10																	73571082		2066	4217	6283	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73571082A>G	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.9103A>G	10.37:g.73571082A>G	ENSP00000224721:p.Met3035Val					CDH23_uc001jsg.3_Missense_Mutation_p.M790V|CDH23_uc001jsh.3_Missense_Mutation_p.M790V|CDH23_uc001jsi.3_Missense_Mutation_p.M790V|CDH23_uc001jsj.3_5'Flank|CDH23_uc010qjr.1_5'Flank	p.M3030V	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			61	9465	+			3030			Extracellular (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.9088A>G		.	.	.	.	.	.	.	.	.	.	A	14.37	2.515340	0.44763	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.56103	0.48	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.47078	0.1426	L	0.51422	1.61	0.53688	D	0.999974	B;B	0.17465	0.022;0.022	B;B	0.17098	0.017;0.017	T	0.40515	-0.9559	10	0.39692	T	0.17	.	11.7651	0.51926	0.9295:0.0:0.0705:0.0	.	3030;3030	E9PEX1;Q9H251	.;CAD23_HUMAN	V	3035;3030;3033;790	ENSP00000381768:M790V	ENSP00000224721:M3035V	M	+	1	0	CDH23	73241088	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.265000	0.78442	2.166000	0.68216	0.454000	0.30748	ATG		0.592	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4		NM_052836		39	31	0	0	0	0.09836	0	39	31		
SORCS3	22986	broad.mit.edu	37	10	106982952	106982952	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr10:106982952G>C	ENST00000369701.3	+	20	3040	c.2813G>C	c.(2812-2814)tGg>tCg	p.W938S	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	938					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GCAGTCGTGTGGCCCAGTCAA	0.443																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NaN																	0				ovary(6)|skin(3)|central_nervous_system(1)	10						c.(2812-2814)TGG>TCG		VPS10 domain receptor protein SORCS 3 precursor							200.0	190.0	193.0					10																	106982952		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106982952G>C	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2813G>C	10.37:g.106982952G>C	ENSP00000358715:p.Trp938Ser					SORCS3_uc010qqz.1_RNA	p.W938S	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	20	3040	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	938			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2813G>C	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497716	0.64186	.	.	ENSG00000156395	ENST00000369701	T	0.38560	1.13	5.06	5.06	0.68205	PKD domain (1);	0.202350	0.46145	D	0.000305	T	0.56834	0.2012	M	0.74881	2.28	0.80722	D	1	D	0.54772	0.968	P	0.51453	0.67	T	0.59768	-0.7392	9	.	.	.	.	18.7786	0.91922	0.0:0.0:1.0:0.0	.	938	Q9UPU3	SORC3_HUMAN	S	938	ENSP00000358715:W938S	.	W	+	2	0	SORCS3	106972942	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.743000	0.62110	2.516000	0.84829	0.563000	0.77884	TGG		0.443	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1		NM_014978		89	16	0	0	0	0.048971	0	89	16		
FAM175B	23172	broad.mit.edu	37	10	126523241	126523241	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr10:126523241G>A	ENST00000298492.5	+	9	994	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	317					cellular response to freezing (GO:0071497)	BRISC complex (GO:0070552)|cytoplasm (GO:0005737)	polyubiquitin binding (GO:0031593)			NS(1)	1						AAACAATCAAGAAAGTACTTT	0.517																																						uc001lib.3		NaN																	0					0						c.(949-951)GAA>AAA		hypothetical protein LOC23172							109.0	90.0	96.0					10																	126523241		2203	4300	6503	SO:0001583	missense	23172					BRISC complex	polyubiquitin binding	g.chr10:126523241G>A	D63877	CCDS31308.2	10q26.2	2013-01-24	2008-07-02	2008-07-02	ENSG00000165660	ENSG00000165660			28975	protein-coding gene	gene with protein product	"""Abraxas brother"""	611144	"""KIAA0157"""	KIAA0157		8590280	Standard	NM_032182		Approved	Em:AC068896.4, ABRO1	uc001lib.4	Q15018	OTTHUMG00000019218	ENST00000298492.5:c.949G>A	10.37:g.126523241G>A	ENSP00000298492:p.Glu317Lys						p.E317K	NM_032182	NP_115558	Q15018	F175B_HUMAN			9	994	+			317					B4DKR2|Q96H11	Missense_Mutation	SNP	ENST00000298492.5	37	c.949G>A	CCDS31308.2	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911367	0.72983	.	.	ENSG00000165660	ENST00000298492	T	0.52754	0.65	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000001	T	0.41282	0.1152	L	0.29908	0.895	0.53005	D	0.999961	P	0.46142	0.873	B	0.42361	0.385	T	0.10109	-1.0644	10	0.25751	T	0.34	-1.7317	18.6193	0.91316	0.0:0.0:1.0:0.0	.	317	Q15018	F175B_HUMAN	K	317	ENSP00000298492:E317K	ENSP00000298492:E317K	E	+	1	0	FAM175B	126513231	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.984000	0.63838	2.836000	0.97738	0.655000	0.94253	GAA		0.517	FAM175B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050891.2		NM_032182		17	37	0	0	0	0.028581	0	17	37		
CYP2E1	1571	broad.mit.edu	37	10	135350635	135350635	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr10:135350635G>C	ENST00000463117.2	+	9	1308	c.1036G>C	c.(1036-1038)Gag>Cag	p.E346Q	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.E346Q			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	346					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GGATAGGCAAGAGATGCCCTA	0.517									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													uc001lnj.1		NaN																	0				central_nervous_system(3)	3						c.(1036-1038)GAG>CAG		cytochrome P450, family 2, subfamily E,	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)						168.0	126.0	140.0					10																	135350635		2203	4300	6503	SO:0001583	missense	1571	Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	g.chr10:135350635G>C	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.1036G>C	10.37:g.135350635G>C	ENSP00000440689:p.Glu346Gln					CYP2E1_uc001lnk.1_Missense_Mutation_p.E209Q|CYP2E1_uc009ybl.1_Missense_Mutation_p.E147Q|CYP2E1_uc009ybm.1_5'UTR|CYP2E1_uc001lnl.1_Missense_Mutation_p.E147Q	p.E346Q	NM_000773	NP_000764	P05181	CP2E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	7	1069	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	346					Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	ENST00000463117.2	37	c.1036G>C	CCDS7686.1	.	.	.	.	.	.	.	.	.	.	G	0.833	-0.744580	0.03065	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586;ENST00000418356	T;T;T;T	0.78816	5.07;5.07;2.7;-1.21	4.77	-4.17	0.03857	.	0.776979	0.12951	N	0.425795	T	0.43942	0.1270	N	0.01352	-0.895	0.09310	N	1	B;B	0.14805	0.011;0.003	B;B	0.15484	0.013;0.002	T	0.40850	-0.9541	10	0.20046	T	0.44	.	9.7207	0.40302	0.2178:0.5795:0.2027:0.0	.	242;346	Q59EW1;P05181	.;CP2E1_HUMAN	Q	346;346;259;209	ENSP00000440689:E346Q;ENSP00000252945:E346Q;ENSP00000412754:E259Q;ENSP00000397299:E209Q	ENSP00000252945:E346Q	E	+	1	0	CYP2E1	135200625	0.080000	0.21391	0.000000	0.03702	0.005000	0.04900	0.362000	0.20284	-0.912000	0.03837	-1.225000	0.01585	GAG		0.517	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2		NM_000773		13	41	0	0	0	0.020292	0	13	41		
KRTAP5-1	387264	broad.mit.edu	37	11	1605847	1605847	+	Silent	SNP	G	G	A	rs373008174		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:1605847G>A	ENST00000382171.2	-	1	666	c.633C>T	c.(631-633)ccC>ccT	p.P211P	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	211	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGCAACACACGGGCACACCGC	0.657																																						uc001ltu.1		NaN																	0					0						c.(631-633)CCC>CCT		keratin associated protein 5-1		G		0,4404		0,0,2202	83.0	89.0	87.0		633	0.6	0.1	11		87	3,8595	3.7+/-12.6	0,3,4296	no	coding-synonymous	KRTAP5-1	NM_001005922.1		0,3,6498	AA,AG,GG		0.0349,0.0,0.0231		211/279	1605847	3,12999	2202	4299	6501	SO:0001819	synonymous_variant	387264					keratin filament		g.chr11:1605847G>A	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.633C>T	11.37:g.1605847G>A						LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron	p.P211P	NM_001005922	NP_001005922	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	667	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	211			8 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000382171.2	37	c.633C>T	CCDS31330.1																																																																																				0.657	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1		NM_001005922		40	95	0	0	0	0.11126	0	40	95		
OR51A4	401666	broad.mit.edu	37	11	4967470	4967470	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:4967470C>T	ENST00000380373.2	-	1	886	c.861G>A	c.(859-861)ctG>ctA	p.L287L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGGTTCGTCAGTGGAGGTA	0.428																																						uc010qys.1		NaN																	0				ovary(2)|skin(1)	3						c.(859-861)CTG>CTA		olfactory receptor, family 51, subfamily A,							164.0	162.0	162.0					11																	4967470		2201	4298	6499	SO:0001819	synonymous_variant	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967470C>T	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.861G>A	11.37:g.4967470C>T							p.L287L	NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	861	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	287			Helical; Name=7; (Potential).			Silent	SNP	ENST00000380373.2	37	c.861G>A	CCDS31367.1																																																																																				0.428	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1		NM_001005329		33	59	0	0	0	0.041601	0	33	59		
OR10A2	341276	broad.mit.edu	37	11	6891085	6891085	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:6891085C>A	ENST00000307322.4	+	1	162	c.100C>A	c.(100-102)Ctg>Atg	p.L34M		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCTCATCATTCTGGTTACCCT	0.463																																						uc001meu.1		NaN																	0				breast(1)	1						c.(100-102)CTG>ATG		olfactory receptor, family 10, subfamily A,							238.0	223.0	228.0					11																	6891085		2201	4296	6497	SO:0001583	missense	341276				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6891085C>A	BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"""GPCR / Class A : Olfactory receptors"""	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.100C>A	11.37:g.6891085C>A	ENSP00000303862:p.Leu34Met						p.L34M	NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	1	100	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	34			Cytoplasmic (Potential).		B2RNL9|Q6IFG9	Missense_Mutation	SNP	ENST00000307322.4	37	c.100C>A	CCDS31415.1	.	.	.	.	.	.	.	.	.	.	c	2.695	-0.272192	0.05716	.	.	ENSG00000170790	ENST00000307322	T	0.02763	4.17	4.3	2.15	0.27550	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39687	N	0.001287	T	0.03434	0.0099	L	0.53617	1.68	0.09310	N	1	B	0.24043	0.096	B	0.27608	0.081	T	0.37454	-0.9705	10	0.66056	D	0.02	.	3.8752	0.09053	0.0:0.5489:0.1919:0.2592	.	34	Q9H208	O10A2_HUMAN	M	34	ENSP00000303862:L34M	ENSP00000303862:L34M	L	+	1	2	OR10A2	6847661	0.000000	0.05858	0.979000	0.43373	0.100000	0.18952	-2.221000	0.01216	0.422000	0.26005	0.603000	0.83216	CTG		0.463	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1		NM_001004460		56	127	1	0	9.59835e-30	0.048971	1.09823e-29	56	127		
OR4X2	119764	broad.mit.edu	37	11	48267353	48267353	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:48267353G>A	ENST00000302329.3	+	1	746	c.698G>A	c.(697-699)gGg>gAg	p.G233E		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TCCACCTGTGGGTCCCATTTC	0.522																																						uc001ngs.1		NaN																	0					0						c.(697-699)GGG>GAG		olfactory receptor, family 4, subfamily X,							110.0	96.0	101.0					11																	48267353		2201	4298	6499	SO:0001583	missense	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48267353G>A	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.698G>A	11.37:g.48267353G>A	ENSP00000307751:p.Gly233Glu						p.G233E	NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN			1	698	+			233			Helical; Name=6; (Potential).		B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	37	c.698G>A	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042012	0.55003	.	.	ENSG00000172208	ENST00000302329	T	0.37752	1.18	5.37	2.1	0.27182	GPCR, rhodopsin-like superfamily (1);	0.381127	0.22004	N	0.065970	T	0.65165	0.2665	M	0.93638	3.44	0.09310	N	0.999995	D	0.53619	0.961	P	0.60286	0.872	T	0.65059	-0.6260	10	0.54805	T	0.06	.	15.493	0.75624	0.0:0.5033:0.4967:0.0	.	233	Q8NGF9	OR4X2_HUMAN	E	233	ENSP00000307751:G233E	ENSP00000307751:G233E	G	+	2	0	OR4X2	48223929	0.000000	0.05858	0.993000	0.49108	0.777000	0.43975	-0.114000	0.10757	0.582000	0.29556	0.650000	0.86243	GGG		0.522	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2		NM_001004727		9	47	0	0	0	0.047766	0	9	47		
OR4C3	256144	broad.mit.edu	37	11	48346728	48346728	+	Missense_Mutation	SNP	C	C	T	rs369587361		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:48346728C>T	ENST00000319856.4	+	1	257	c.236C>T	c.(235-237)aCg>aTg	p.T79M		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T79K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TCCAGCCCCACGCTGGCTTCC	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		20189	0.001		0.0	False		,,,				2504	0.0					uc010rhv.1		NaN																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(235-237)ACG>ATG		olfactory receptor, family 4, subfamily C,		C	MET/THR	0,4402		0,0,2201	145.0	124.0	131.0		236	-0.5	0.0	11		131	1,8595	1.2+/-3.3	0,1,4297	no	missense	OR4C3	NM_001004702.1	81	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	benign	79/330	48346728	1,12997	2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48346728C>T	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.236C>T	11.37:g.48346728C>T	ENSP00000321419:p.Thr79Met						p.T79M	NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN			1	236	+			52			Cytoplasmic (Potential).		B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.236C>T	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	C	6.474	0.455591	0.12283	0.0	1.16E-4	ENSG00000176547	ENST00000319856	T	0.01099	5.34	5.88	-0.484	0.12071	GPCR, rhodopsin-like superfamily (1);	0.914688	0.09142	N	0.842821	T	0.01835	0.0058	M	0.77103	2.36	0.09310	N	1	B	0.22541	0.071	B	0.23419	0.046	T	0.45731	-0.9241	10	0.56958	D	0.05	.	1.4969	0.02468	0.1205:0.3541:0.2478:0.2776	.	52	Q8NH37	OR4C3_HUMAN	M	79	ENSP00000321419:T79M	ENSP00000321419:T79M	T	+	2	0	OR4C3	48303304	0.000000	0.05858	0.001000	0.08648	0.180000	0.23129	-1.714000	0.01881	-0.318000	0.08665	0.549000	0.68633	ACG		0.448	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1		NM_001004702		31	60	0	0	0	0.037714	0	31	60		
OR4C13	283092	broad.mit.edu	37	11	49974164	49974164	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:49974164C>T	ENST00000555099.1	+	1	222	c.190C>T	c.(190-192)Ctc>Ttc	p.L64F		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L64F(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CCTGGCCTATCTCTCCTTTAT	0.433																																						uc010rhz.1		NaN																	1	Substitution - Missense(1)		skin(1)	skin(3)|ovary(1)	4						c.(190-192)CTC>TTC		olfactory receptor, family 4, subfamily C,							244.0	223.0	230.0					11																	49974164		2201	4296	6497	SO:0001583	missense	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974164C>T	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.190C>T	11.37:g.49974164C>T	ENSP00000452277:p.Leu64Phe						p.L64F	NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN			1	190	+			64			Helical; Name=2; (Potential).		A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	c.190C>T	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	9.898	1.206100	0.22205	.	.	ENSG00000258817	ENST00000555099	T	0.00512	6.89	2.95	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36034	N	0.002821	T	0.00906	0.0030	M	0.85630	2.765	0.25800	N	0.984512	P	0.41450	0.75	B	0.43360	0.417	T	0.29274	-1.0017	9	.	.	.	.	11.6719	0.51406	0.0:1.0:0.0:0.0	.	64	Q8NGP0	OR4CD_HUMAN	F	64	ENSP00000452277:L64F	.	L	+	1	0	OR4C13	49930740	0.002000	0.14202	0.804000	0.32291	0.081000	0.17604	0.034000	0.13776	1.646000	0.50622	0.195000	0.17529	CTC		0.433	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1		NM_001001955		25	242	0	0	0	0.099896	0	25	242		
OR5B17	219965	broad.mit.edu	37	11	58126261	58126261	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:58126261G>A	ENST00000357377.3	-	1	281	c.282C>T	c.(280-282)gcC>gcT	p.A94A		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAGCAGCACAGGCACTGTAGG	0.483																																						uc010rke.1		NaN																	0				ovary(2)|skin(1)	3						c.(280-282)GCC>GCT		olfactory receptor, family 5, subfamily B,							96.0	86.0	90.0					11																	58126261		2201	4295	6496	SO:0001819	synonymous_variant	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58126261G>A	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"""GPCR / Class A : Olfactory receptors"""	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.282C>T	11.37:g.58126261G>A							p.A94A	NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN			1	282	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	94			Extracellular (Potential).		Q6IEX1	Silent	SNP	ENST00000357377.3	37	c.282C>T	CCDS31548.1																																																																																				0.483	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2		NM_001005489		33	31	0	0	0	0.054565	0	33	31		
SLC22A12	116085	broad.mit.edu	37	11	64368979	64368979	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:64368979C>T	ENST00000377574.1	+	10	2365	c.1618C>T	c.(1618-1620)Cat>Tat	p.H540Y	SLC22A12_ENST00000473690.1_Missense_Mutation_p.H319Y|SLC22A12_ENST00000336464.7_Missense_Mutation_p.H506Y|SLC22A12_ENST00000377572.1_Missense_Mutation_p.H432Y|SLC22A12_ENST00000377567.2_Missense_Mutation_p.H432Y	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	540					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	GAAGGCAACACATGGCACGCT	0.567																																						uc001oam.1		NaN																	0				ovary(1)	1						c.(1618-1620)CAT>TAT		urate anion exchanger 1 isoform a							148.0	100.0	116.0					11																	64368979		2201	4297	6498	SO:0001583	missense	116085				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	g.chr11:64368979C>T	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.1618C>T	11.37:g.64368979C>T	ENSP00000366797:p.His540Tyr					SLC22A12_uc001oal.1_Missense_Mutation_p.H319Y|SLC22A12_uc009yps.1_Missense_Mutation_p.H506Y|SLC22A12_uc001oan.1_Missense_Mutation_p.H432Y	p.H540Y	NM_144585	NP_653186	Q96S37	S22AC_HUMAN			10	2365	+			540					B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Missense_Mutation	SNP	ENST00000377574.1	37	c.1618C>T	CCDS8075.1	.	.	.	.	.	.	.	.	.	.	C	8.830	0.939588	0.18281	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000473690;ENST00000336464	T;T;T;T;T	0.64991	-0.06;-0.08;-0.06;-0.13;-0.06	3.31	0.327	0.15913	.	1.337080	0.06019	U	0.650973	T	0.49321	0.1550	L	0.44542	1.39	0.09310	N	1	B;B;B	0.32620	0.347;0.378;0.347	B;B;B	0.29353	0.063;0.101;0.063	T	0.44128	-0.9348	10	0.66056	D	0.02	.	2.835	0.05512	0.2197:0.5332:0.0:0.2471	.	506;432;540	B5ME56;Q96S37-2;Q96S37	.;.;S22AC_HUMAN	Y	432;540;432;319;506	ENSP00000366790:H432Y;ENSP00000366797:H540Y;ENSP00000366795:H432Y;ENSP00000438437:H319Y;ENSP00000336836:H506Y	ENSP00000336836:H506Y	H	+	1	0	SLC22A12	64125555	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.388000	0.07352	0.078000	0.16900	0.561000	0.74099	CAT		0.567	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2		NM_144585		6	17	0	0	0	0.021553	0	6	17		
MRPL11	65003	broad.mit.edu	37	11	66206132	66206132	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:66206132C>G	ENST00000310999.7	-	1	187	c.94G>C	c.(94-96)Ggg>Cgg	p.G32R	MRPL11_ENST00000524576.1_Intron|MRPL11_ENST00000430466.2_Intron|MRPL11_ENST00000329819.4_Missense_Mutation_p.G32R	NM_016050.3	NP_057134.1	Q9Y3B7	RM11_HUMAN	mitochondrial ribosomal protein L11	32					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						AGTGGGGGCCCGGGCATGGCC	0.721																																						uc001ohz.3		NaN																	0					0						c.(94-96)GGG>CGG		mitochondrial ribosomal protein L11 isoform a							14.0	17.0	16.0					11																	66206132		2039	4153	6192	SO:0001583	missense	65003				translation		structural constituent of ribosome	g.chr11:66206132C>G	AB051338	CCDS8139.1, CCDS8140.1, CCDS44655.1	11q13.2	2012-11-14			ENSG00000174547	ENSG00000174547		"""Mitochondrial ribosomal proteins / large subunits"""	14042	protein-coding gene	gene with protein product		611826					Standard	XR_247672		Approved		uc001ohz.4	Q9Y3B7	OTTHUMG00000167097	ENST00000310999.7:c.94G>C	11.37:g.66206132C>G	ENSP00000308897:p.Gly32Arg					MRPL11_uc001ohy.3_Missense_Mutation_p.G32R|MRPL11_uc001oia.3_Intron	p.G32R	NM_016050	NP_057134	Q9Y3B7	RM11_HUMAN			1	179	-			32					A6NLT0|A8K219|Q32P46|Q96Q73	Missense_Mutation	SNP	ENST00000310999.7	37	c.94G>C	CCDS8139.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733799	0.89482	.	.	ENSG00000174547	ENST00000310999;ENST00000329819	.	.	.	5.73	5.73	0.89815	Ribosomal protein L11, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.87116	0.6097	H	0.94925	3.6	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.90082	0.4171	9	0.72032	D	0.01	-14.8265	17.3904	0.87428	0.0:1.0:0.0:0.0	.	32;32	Q9Y3B7;A6NLT0	RM11_HUMAN;.	R	32	.	ENSP00000308897:G32R	G	-	1	0	MRPL11	65962708	0.999000	0.42202	0.973000	0.42090	0.484000	0.33280	3.621000	0.54210	2.700000	0.92200	0.655000	0.94253	GGG		0.721	MRPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393098.2		NM_016050		38	13	0	0	0	0.092188	0	38	13		
CLPB	81570	broad.mit.edu	37	11	72012890	72012890	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:72012890G>A	ENST00000294053.3	-	12	1549	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V	CLPB_ENST00000340729.5_Missense_Mutation_p.A400V|CLPB_ENST00000543042.1_Missense_Mutation_p.A258V|CLPB_ENST00000538039.1_Missense_Mutation_p.A429V|AP000593.7_ENST00000546065.1_RNA|CLPB_ENST00000538021.1_Missense_Mutation_p.A67V|CLPB_ENST00000437826.2_Missense_Mutation_p.A414V	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	459					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						ATCTGGATGGGCCTTGTCTAC	0.567																																						uc001osj.2		NaN																	0				pancreas(1)	1						c.(1375-1377)GCC>GTC		caseinolytic peptidase B							193.0	166.0	175.0					11																	72012890		2200	4293	6493	SO:0001583	missense	81570				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr11:72012890G>A	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"""Ankyrin repeat domain containing"""	30664	protein-coding gene	gene with protein product	"""suppressor of potassium transport defect 3"""					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.1376C>T	11.37:g.72012890G>A	ENSP00000294053:p.Ala459Val					CLPB_uc010rqx.1_Missense_Mutation_p.A414V|CLPB_uc010rqy.1_Missense_Mutation_p.A400V|CLPB_uc001osk.2_Missense_Mutation_p.A429V|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Missense_Mutation_p.A258V|CLPB_uc001osi.2_Missense_Mutation_p.A67V	p.A459V	NM_030813	NP_110440	Q9H078	CLPB_HUMAN			12	1426	-			459					B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	ENST00000294053.3	37	c.1376C>T	CCDS8215.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.487573|5.487573	0.96323|0.96323	.|.	.|.	ENSG00000162129|ENSG00000162129	ENST00000294053;ENST00000538039;ENST00000535990;ENST00000340729;ENST00000437826;ENST00000543042;ENST00000538021|ENST00000544382	T;T;T;T;T;T;T|.	0.48522|.	0.81;0.81;0.81;0.81;0.81;0.81;0.81|.	5.63|5.63	5.63|5.63	0.86233|0.86233	ATPase, AAA-2 (1);ATPase, AAA+ type, core (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90872|0.90872	0.7132|0.7132	H|H	0.98487|0.98487	4.245|4.245	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D|D	0.94107|0.94107	0.7367|0.7367	10|5	0.87932|.	D|.	0|.	-16.3178|-16.3178	18.2877|18.2877	0.90119|0.90119	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	258;400;414;429;459;67|.	B4DXW4;F8W7P6;E7EWN6;Q9H078-2;Q9H078;Q7Z777|.	.;.;.;.;CLPB_HUMAN;.|.	V|S	459;429;464;400;414;258;67|237	ENSP00000294053:A459V;ENSP00000441518:A429V;ENSP00000443822:A464V;ENSP00000340385:A400V;ENSP00000407296:A414V;ENSP00000439746:A258V;ENSP00000445180:A67V|.	ENSP00000294053:A459V|.	A|P	-|-	2|1	0|0	CLPB|CLPB	71690538|71690538	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.869000|9.869000	0.99810|0.99810	2.652000|2.652000	0.90054|0.90054	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.567	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1		NM_030813		9	265	0	0	0	0.047766	0	9	265		
UCP2	7351	broad.mit.edu	37	11	73689056	73689056	+	Missense_Mutation	SNP	C	C	A	rs182694614	byFrequency	TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:73689056C>A	ENST00000310473.3	-	4	1054	c.212G>T	c.(211-213)cGt>cTt	p.R71L	UCP2_ENST00000536983.1_Missense_Mutation_p.R71L|UCP2_ENST00000542615.1_5'Flank	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	71					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to amino acid starvation (GO:0034198)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|female pregnancy (GO:0007565)|liver regeneration (GO:0097421)|mitochondrial transport (GO:0006839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|positive regulation of cell death (GO:0010942)|proton transport (GO:0015992)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					GCCCTCAGTACGCACCATGGT	0.602																																					Colon(191;388 2040 43557 45622 48925)	uc001oup.1		NaN																	0					0						c.(211-213)CGT>CTT		uncoupling protein 2							51.0	52.0	52.0					11																	73689056		2200	4293	6493	SO:0001583	missense	7351				proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding	g.chr11:73689056C>A	U76367	CCDS8228.1	11q13	2014-02-12						"""Solute carriers"""	12518	protein-coding gene	gene with protein product		601693	"""body mass index QTL 4"", ""body mass index quantitative trait 4"""	BMIQ4		9196039, 11381268	Standard	NM_003355		Approved	SLC25A8	uc001oup.1	P55851		ENST00000310473.3:c.212G>T	11.37:g.73689056C>A	ENSP00000312029:p.Arg71Leu					UCP2_uc001ouq.1_Missense_Mutation_p.R71L	p.R71L	NM_003355	NP_003346	P55851	UCP2_HUMAN			4	592	-	Breast(11;0.000112)		71			Solcar 1.		Q4PJH8|Q53HM3	Missense_Mutation	SNP	ENST00000310473.3	37	c.212G>T	CCDS8228.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104186	0.76983	.	.	ENSG00000175567	ENST00000310473;ENST00000536983;ENST00000544615	T;T;T	0.80393	-1.37;-1.37;-1.37	6.07	3.9	0.45041	Mitochondrial carrier domain (2);	0.100070	0.64402	D	0.000006	D	0.90103	0.6908	H	0.95114	3.625	0.47778	D	0.999512	P;P	0.42973	0.796;0.657	P;P	0.54544	0.755;0.692	D	0.91565	0.5267	10	0.72032	D	0.01	-6.6255	10.2886	0.43581	0.0:0.7687:0.0:0.2313	.	71;71	F5GX45;P55851	.;UCP2_HUMAN	L	71;71;44	ENSP00000312029:R71L;ENSP00000441147:R71L;ENSP00000439951:R44L	ENSP00000312029:R71L	R	-	2	0	UCP2	73366704	0.998000	0.40836	0.998000	0.56505	0.603000	0.37013	1.640000	0.37186	1.581000	0.49865	0.655000	0.94253	CGT		0.602	UCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398108.1		NM_003355		54	41	1	0	2.12129e-23	0.048971	2.39374e-23	54	41		
CTSC	1075	broad.mit.edu	37	11	88070744	88070744	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:88070744G>A	ENST00000227266.5	-	1	211	c.97C>T	c.(97-99)Ctt>Ttt	p.L33F	CTSC_ENST00000393301.4_5'UTR|CTSC_ENST00000529974.1_Missense_Mutation_p.L33F|CTSC_ENST00000524463.1_Missense_Mutation_p.L33F	NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	33					aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGCAGGTCAAGATAGGTGCAG	0.672																																						uc001pck.3		NaN																	0					0						c.(97-99)CTT>TTT		cathepsin C isoform a preproprotein							20.0	19.0	20.0					11																	88070744		2198	4290	6488	SO:0001583	missense	1075				immune response	lysosome	cysteine-type endopeptidase activity	g.chr11:88070744G>A	AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"""Cathepsins"""	2528	protein-coding gene	gene with protein product	"""dipeptidyl peptidase 1"""	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.97C>T	11.37:g.88070744G>A	ENSP00000227266:p.Leu33Phe					CTSC_uc001pcl.3_5'UTR|CTSC_uc001pcm.3_Missense_Mutation_p.L33F|CTSC_uc001pcn.3_Missense_Mutation_p.L33F	p.L33F	NM_001814	NP_001805	P53634	CATC_HUMAN			1	198	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	33					A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Missense_Mutation	SNP	ENST00000227266.5	37	c.97C>T	CCDS8282.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.386960	0.61956	.	.	ENSG00000109861	ENST00000393302;ENST00000227266;ENST00000524463;ENST00000529974	D;D;D	0.88277	-2.36;-2.36;-2.36	5.01	1.14	0.20703	Cathepsin C exclusion (1);	0.391329	0.27659	N	0.018391	T	0.74160	0.3680	N	0.08118	0	0.21861	N	0.999508	B;B;B	0.31153	0.235;0.31;0.132	B;B;B	0.36922	0.236;0.231;0.02	T	0.62895	-0.6757	9	.	.	.	.	4.9646	0.14083	0.2109:0.3146:0.4745:0.0	.	33;33;33	Q2HIY8;P53634-2;P53634	.;.;CATC_HUMAN	F	16;33;33;33	ENSP00000227266:L33F;ENSP00000432541:L33F;ENSP00000433539:L33F	.	L	-	1	0	CTSC	87710392	0.987000	0.35691	0.879000	0.34478	0.921000	0.55340	2.478000	0.45189	1.102000	0.41551	0.561000	0.74099	CTT		0.672	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2		NM_001814		5	6	0	0	0	0.021553	0	5	6		
FAT3	120114	broad.mit.edu	37	11	92532148	92532148	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:92532148C>T	ENST00000298047.6	+	9	5986	c.5969C>T	c.(5968-5970)tCa>tTa	p.S1990L	FAT3_ENST00000525166.1_Missense_Mutation_p.S1840L|FAT3_ENST00000409404.2_Missense_Mutation_p.S1990L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1990	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TATTCCACCTCAATCTCAGAG	0.428										TCGA Ovarian(4;0.039)																												uc001pdj.3		NaN																	0				ovary(4)|pancreas(1)	5						c.(5968-5970)TCA>TTA		FAT tumor suppressor homolog 3							177.0	172.0	173.0					11																	92532148		1939	4144	6083	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92532148C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5969C>T	11.37:g.92532148C>T	ENSP00000298047:p.Ser1990Leu	TCGA Ovarian(4;0.039)					p.S1990L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	5986	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1990			Extracellular (Potential).|Cadherin 18.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.5969C>T		.	.	.	.	.	.	.	.	.	.	C	12.57	1.977580	0.34848	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.02631	4.22;4.22;4.22	6.02	6.02	0.97574	.	.	.	.	.	T	0.12817	0.0311	M	0.85630	2.765	0.80722	D	1	D	0.53745	0.962	P	0.51582	0.674	T	0.03221	-1.1059	9	0.27785	T	0.31	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	1990	Q8TDW7-3	.	L	1990;1990;1840	ENSP00000298047:S1990L;ENSP00000387040:S1990L;ENSP00000432586:S1840L	ENSP00000298047:S1990L	S	+	2	0	FAT3	92171796	0.995000	0.38212	0.958000	0.39756	0.968000	0.65278	4.618000	0.61211	2.865000	0.98341	0.655000	0.94253	TCA		0.428	FAT3-201	KNOWN	basic	protein_coding	protein_coding			NM_001008781		92	135	0	0	0	0.048971	0	92	135		
DIXDC1	85458	broad.mit.edu	37	11	111853166	111853166	+	Silent	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:111853166A>G	ENST00000440460.2	+	8	1167	c.870A>G	c.(868-870)ttA>ttG	p.L290L	DIXDC1_ENST00000315253.5_Silent_p.L79L|DIXDC1_ENST00000389821.4_3'UTR	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	291	Actin-binding.				camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		AAGAATATTTAGAAAAAGAAA	0.433											OREG0021331	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001pml.2		NaN																	0				ovary(1)	1						c.(871-873)TTA>TTG		DIX domain containing 1 isoform a							71.0	69.0	70.0					11																	111853166		1840	4083	5923	SO:0001819	synonymous_variant	85458				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity	g.chr11:111853166A>G	AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000440460.2:c.870A>G	11.37:g.111853166A>G			OREG0021331	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1438	DIXDC1_uc001pmm.2_Silent_p.L80L|DIXDC1_uc001pmn.2_5'UTR	p.L291L	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)	8	1170	+		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	291			Potential.|Actin-binding.		A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Silent	SNP	ENST00000440460.2	37	c.873A>G																																																																																					0.433	DIXDC1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001037954		3	18	0	0	0	0.004672	0	3	18		
ABCG4	64137	broad.mit.edu	37	11	119020905	119020905	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:119020905G>A	ENST00000449422.2	+	2	418	c.230G>A	c.(229-231)cGc>cAc	p.R77H	ABCG4_ENST00000531739.1_Missense_Mutation_p.R77H|ABCG4_ENST00000307417.3_Missense_Mutation_p.R77H	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	77	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	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)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCTGCTGGCGCAAAAGGGGT	0.622																																						uc001pvs.2		NaN																	0				ovary(2)	2						c.(229-231)CGC>CAC		ATP-binding cassette, subfamily G, member 4							66.0	75.0	72.0					11																	119020905		2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119020905G>A	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.230G>A	11.37:g.119020905G>A	ENSP00000406874:p.Arg77His					ABCG4_uc009zar.2_Missense_Mutation_p.R77H	p.R77H	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	2	566	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	77			Cytoplasmic (Potential).|ABC transporter.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.230G>A	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366993	0.82463	.	.	ENSG00000172350	ENST00000307417;ENST00000524604;ENST00000449422;ENST00000531739	T;T;T;T	0.08102	3.13;3.13;3.13;3.13	4.34	4.34	0.51931	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	T	0.11281	0.0275	L	0.35487	1.065	0.53688	D	0.999975	D	0.67145	0.996	P	0.47470	0.548	T	0.06807	-1.0806	10	0.51188	T	0.08	-22.516	17.1003	0.86647	0.0:0.0:1.0:0.0	.	77	Q9H172	ABCG4_HUMAN	H	77	ENSP00000304111:R77H;ENSP00000431915:R77H;ENSP00000406874:R77H;ENSP00000434318:R77H	ENSP00000304111:R77H	R	+	2	0	ABCG4	118526115	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.502000	0.66956	2.272000	0.75746	0.644000	0.83932	CGC		0.622	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1		NM_022169		48	85	0	0	0	0.048971	0	48	85		
PRMT8	56341	broad.mit.edu	37	12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652																																						uc001qmf.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(91-93)TCC>CCC		HMT1 hnRNP methyltransferase-like 4							41.0	51.0	47.0					12																	3649787		2199	4299	6498	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649787T>C	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.91T>C	12.37:g.3649787T>C	ENSP00000372067:p.Ser31Pro					PRMT8_uc009zed.2_Missense_Mutation_p.S22P|PRMT8_uc009zee.1_RNA	p.S31P	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	458	+			31			SH3-binding 1.		B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.91T>C	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834665	0.50951	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.30182	1.65;1.54	5.52	-6.61	0.01818	.	0.606566	0.17318	N	0.178612	T	0.16171	0.0389	L	0.43152	1.355	0.28544	N	0.911948	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09997	-1.0649	10	0.29301	T	0.29	.	3.8844	0.09091	0.1085:0.1587:0.4822:0.2506	.	22;31	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	P	22;31	ENSP00000414507:S22P;ENSP00000372067:S31P	ENSP00000372067:S31P	S	+	1	0	PRMT8	3520048	0.000000	0.05858	0.001000	0.08648	0.946000	0.59487	-0.825000	0.04433	-0.996000	0.03455	0.460000	0.39030	TCC		0.652	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2		NM_019854		21	137	0	0	0	0.059317	0	21	137		
GALNT8	26290	broad.mit.edu	37	12	4835870	4835870	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:4835870G>T	ENST00000252318.2	+	2	721	c.384G>T	c.(382-384)tgG>tgT	p.W128C	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	128					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TCAGGCAATGGGGCGAGGATC	0.517																																					Colon(108;631 1558 7270 20097 39846)	uc001qne.1		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(382-384)TGG>TGT		polypeptide N-acetylgalactosaminyltransferase 8							66.0	62.0	63.0					12																	4835870		2203	4300	6503	SO:0001583	missense	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4835870G>T	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.384G>T	12.37:g.4835870G>T	ENSP00000252318:p.Trp128Cys						p.W128C	NM_017417	NP_059113	Q9NY28	GALT8_HUMAN			2	476	+			128			Lumenal (Potential).		B2RU02	Missense_Mutation	SNP	ENST00000252318.2	37	c.384G>T	CCDS8533.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616292	0.66672	.	.	ENSG00000130035	ENST00000252318	T	0.55052	0.54	4.01	4.01	0.46588	.	0.000000	0.53938	D	0.000054	T	0.67287	0.2877	M	0.64997	1.995	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.70608	-0.4825	10	0.87932	D	0	.	11.5042	0.50456	0.0:0.0:1.0:0.0	.	128	Q9NY28	GALT8_HUMAN	C	128	ENSP00000252318:W128C	ENSP00000252318:W128C	W	+	3	0	GALNT8	4706131	1.000000	0.71417	0.775000	0.31657	0.054000	0.15201	6.350000	0.73017	2.064000	0.61679	0.650000	0.86243	TGG		0.517	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2		NM_017417		31	33	1	0	8.58068e-18	0.034045	9.55135e-18	31	33		
KIAA1467	57613	broad.mit.edu	37	12	13208856	13208856	+	Missense_Mutation	SNP	A	A	G	rs201489154		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:13208856A>G	ENST00000197268.8	+	2	529	c.409A>G	c.(409-411)Agc>Ggc	p.S137G		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	137						integral component of membrane (GO:0016021)		p.S137G(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CAGCACCTGGAGCCGCCACTT	0.517																																						uc001rbi.2		NaN																	1	Substitution - Missense(1)		endometrium(1)	central_nervous_system(2)|skin(1)	3						c.(409-411)AGC>GGC		hypothetical protein LOC57613							24.0	25.0	25.0					12																	13208856		2188	4263	6451	SO:0001583	missense	57613					integral to membrane		g.chr12:13208856A>G	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.409A>G	12.37:g.13208856A>G	ENSP00000197268:p.Ser137Gly					KIAA1467_uc009zhx.1_RNA	p.S137G	NM_020853	NP_065904	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	2	432	+		Prostate(47;0.184)	137					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	c.409A>G	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	a	9.423	1.083561	0.20309	.	.	ENSG00000084444	ENST00000197268	T	0.26810	1.71	5.13	3.96	0.45880	Quinonprotein alcohol dehydrogenase-like (1);	0.429168	0.28772	N	0.014182	T	0.21062	0.0507	L	0.54323	1.7	0.24208	N	0.995489	B	0.27679	0.185	B	0.23852	0.049	T	0.17992	-1.0351	10	0.24483	T	0.36	-10.0343	7.2983	0.26405	0.7779:0.1466:0.0756:0.0	.	137	A2RU67	K1467_HUMAN	G	137	ENSP00000197268:S137G	ENSP00000197268:S137G	S	+	1	0	KIAA1467	13100123	1.000000	0.71417	0.989000	0.46669	0.694000	0.40290	2.497000	0.45354	0.766000	0.33244	0.487000	0.48397	AGC		0.517	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1		NM_020853		8	58	0	0	0	0.020292	0	8	58		
SOX5	6660	broad.mit.edu	37	12	23793806	23793806	+	Silent	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:23793806G>T	ENST00000451604.2	-	8	1058	c.957C>A	c.(955-957)atC>atA	p.I319I	SOX5_ENST00000546136.1_Silent_p.I306I|RP11-437F6.1_ENST00000546118.1_RNA|SOX5_ENST00000309359.1_Silent_p.I306I|SOX5_ENST00000381381.2_Silent_p.I306I|SOX5_ENST00000541536.1_Silent_p.I306I|SOX5_ENST00000537393.1_Silent_p.I284I|SOX5_ENST00000545921.1_Silent_p.I309I			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	319					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TGGTAGTTGGGATCAGCTGAA	0.473																																						uc001rfw.2		NaN																	0				ovary(5)|lung(1)	6						c.(955-957)ATC>ATA		SRY (sex determining region Y)-box 5 isoform a							99.0	102.0	101.0					12																	23793806		2203	4300	6503	SO:0001819	synonymous_variant	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23793806G>T	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.957C>A	12.37:g.23793806G>T						SOX5_uc001rfx.2_Silent_p.I306I|SOX5_uc001rfy.2_Silent_p.I306I|SOX5_uc010siv.1_Silent_p.I306I|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Silent_p.I271I	p.I319I	NM_006940	NP_008871	P35711	SOX5_HUMAN			8	1059	-			319					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Silent	SNP	ENST00000451604.2	37	c.957C>A	CCDS8699.1																																																																																				0.473	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2		NM_006940		49	74	1	0	1.00221e-16	0.048971	1.10558e-16	49	74		
DENND5B	160518	broad.mit.edu	37	12	31633168	31633168	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:31633168A>T	ENST00000389082.5	-	3	523	c.259T>A	c.(259-261)Tct>Act	p.S87T	DENND5B_ENST00000354285.4_Missense_Mutation_p.S109T|DENND5B_ENST00000536562.1_Missense_Mutation_p.S122T|DENND5B_ENST00000306833.6_Missense_Mutation_p.S122T|DENND5B_ENST00000545147.1_Intron	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	87	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GTCCTGAAAGATAGCCCTTTA	0.353																																						uc001rki.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(259-261)TCT>ACT		DENN/MADD domain containing 5B							22.0	21.0	21.0					12																	31633168		1815	4081	5896	SO:0001583	missense	160518					integral to membrane		g.chr12:31633168A>T	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.259T>A	12.37:g.31633168A>T	ENSP00000373734:p.Ser87Thr					DENND5B_uc001rkh.1_Missense_Mutation_p.S122T|DENND5B_uc009zjq.1_Missense_Mutation_p.S6T|DENND5B_uc001rkj.2_Missense_Mutation_p.S109T|DENND5B_uc001rkk.1_Missense_Mutation_p.S9T	p.S87T	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN			3	445	-			87			UDENN.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.259T>A	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	A	14.72	2.619564	0.46736	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285;ENST00000546299	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	4.8	4.8	0.61643	uDENN (3);	0.000000	0.64402	D	0.000001	T	0.31451	0.0797	N	0.17082	0.46	0.58432	D	0.999999	B;B;P;B;B	0.38582	0.151;0.171;0.638;0.182;0.151	B;B;B;B;B	0.42462	0.119;0.193;0.388;0.155;0.13	T	0.07539	-1.0767	10	0.19147	T	0.46	-16.6711	14.533	0.67939	1.0:0.0:0.0:0.0	.	122;9;109;87;122	Q6ZUT9-2;Q6ZUT9-3;Q6ZUT9-4;Q6ZUT9;G3V1S3	.;.;.;DEN5B_HUMAN;.	T	87;122;122;109;39	ENSP00000373734:S87T;ENSP00000306482:S122T;ENSP00000444889:S122T;ENSP00000346238:S109T;ENSP00000442938:S39T	ENSP00000306482:S122T	S	-	1	0	DENND5B	31524435	0.903000	0.30736	0.999000	0.59377	0.994000	0.84299	1.970000	0.40520	2.016000	0.59253	0.533000	0.62120	TCT		0.353	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1		NM_144973		3	17	0	0	0	0.009096	0	3	17		
KIAA1551	55196	broad.mit.edu	37	12	32136195	32136195	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:32136195C>A	ENST00000312561.4	+	4	2720	c.2306C>A	c.(2305-2307)tCa>tAa	p.S769*	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	769																	TTAGTTCTGTCAGAGGTCAAA	0.378																																						uc001rks.2		NaN																	0				ovary(1)|skin(1)	2						c.(2305-2307)TCA>TAA		hypothetical protein LOC55196							86.0	81.0	82.0					12																	32136195		2203	4300	6503	SO:0001587	stop_gained	55196							g.chr12:32136195C>A	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.2306C>A	12.37:g.32136195C>A	ENSP00000310338:p.Ser769*						p.S769*	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		4	2720	+	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		769					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Nonsense_Mutation	SNP	ENST00000312561.4	37	c.2306C>A	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	40	8.283429	0.98742	.	.	ENSG00000174718	ENST00000312561	.	.	.	5.63	3.77	0.43336	.	0.283189	0.25335	N	0.031419	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6634	0.39969	0.0:0.784:0.1406:0.0753	.	.	.	.	X	769	.	.	S	+	2	0	C12orf35	32027462	0.983000	0.35010	0.031000	0.17742	0.486000	0.33341	2.975000	0.49281	0.694000	0.31654	0.557000	0.71058	TCA		0.378	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2		NM_018169		32	54	1	0	2.08457e-15	0.045705	2.27913e-15	32	54		
ARID2	196528	broad.mit.edu	37	12	46230707	46230707	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:46230707C>T	ENST00000334344.6	+	8	1128	c.956C>T	c.(955-957)tCt>tTt	p.S319F	ARID2_ENST00000444670.1_5'Flank|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.S170F	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	319					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CTATTACTTTCTGCACATAGT	0.378			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1		NaN		Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					0				ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(955-957)TCT>TTT		AT rich interactive domain 2 (ARID, RFX-like)							168.0	157.0	160.0					12																	46230707		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46230707C>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.956C>T	12.37:g.46230707C>T	ENSP00000335044:p.Ser319Phe					ARID2_uc001ror.2_Missense_Mutation_p.S319F|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR	p.S319F	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	8	956	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	319					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.956C>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436633	0.83885	.	.	ENSG00000189079	ENST00000334344;ENST00000422737	T;T	0.46063	0.88;0.88	5.87	5.87	0.94306	.	0.050625	0.85682	D	0.000000	T	0.55529	0.1926	L	0.36672	1.1	0.80722	D	1	D	0.71674	0.998	P	0.61940	0.896	T	0.54728	-0.8250	10	0.66056	D	0.02	-10.8617	20.2009	0.98259	0.0:1.0:0.0:0.0	.	319	Q68CP9	ARID2_HUMAN	F	319;170	ENSP00000335044:S319F;ENSP00000415650:S170F	ENSP00000335044:S319F	S	+	2	0	ARID2	44516974	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.277000	0.72608	2.767000	0.95098	0.591000	0.81541	TCT		0.378	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2		XM_350875		21	58	0	0	0	0.049695	0	21	58		
FMNL3	91010	broad.mit.edu	37	12	50044617	50044617	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:50044617C>T	ENST00000293590.5	-	17	2075	c.1842G>A	c.(1840-1842)gcG>gcA	p.A614A	FMNL3_ENST00000335154.5_Silent_p.A614A|FMNL3_ENST00000550488.1_Silent_p.A614A|FMNL3_ENST00000352151.5_Silent_p.A563A			Q8IVF7	FMNL3_HUMAN	formin-like 3	614	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CAGGGCCCTGCGCTTTTGTCT	0.498																																						uc001ruv.1		NaN																	0				breast(2)|pancreas(2)	4						c.(1840-1842)GCG>GCA		formin-like 3 isoform 1							110.0	102.0	105.0					12																	50044617		1937	4138	6075	SO:0001819	synonymous_variant	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50044617C>T	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1842G>A	12.37:g.50044617C>T						FMNL3_uc001ruw.1_Silent_p.A563A|FMNL3_uc001rut.1_Silent_p.A180A|FMNL3_uc001ruu.1_Silent_p.A464A	p.A614A	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN			17	2076	-			614			FH2.		B0JZA7|Q6ZRJ1	Silent	SNP	ENST00000293590.5	37	c.1842G>A																																																																																					0.498	FMNL3-201	KNOWN	basic	protein_coding	protein_coding			NM_175736		31	79	0	0	0	0.045705	0	31	79		
NR4A1	3164	broad.mit.edu	37	12	52449884	52449884	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:52449884G>A	ENST00000243050.1	+	4	1261	c.947G>A	c.(946-948)cGa>cAa	p.R316Q	NR4A1_ENST00000394825.1_Missense_Mutation_p.R316Q|NR4A1_ENST00000545748.1_Missense_Mutation_p.R370Q|NR4A1_ENST00000394824.2_Missense_Mutation_p.R316Q|NR4A1_ENST00000360284.3_Missense_Mutation_p.R329Q|NR4A1_ENST00000550082.1_Missense_Mutation_p.R329Q|RP11-1100L3.8_ENST00000564363.1_lincRNA	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	316					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		AAGAGGCGGCGAAACCGCTGC	0.632																																						uc001rzs.2		NaN																	0					0						c.(946-948)CGA>CAA		nuclear receptor subfamily 4, group A, member 1							85.0	80.0	82.0					12																	52449884		2203	4300	6503	SO:0001583	missense	3164				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	g.chr12:52449884G>A	L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"""Nuclear hormone receptors"""	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.947G>A	12.37:g.52449884G>A	ENSP00000243050:p.Arg316Gln					NR4A1_uc010sno.1_Missense_Mutation_p.R329Q|NR4A1_uc001rzt.2_Missense_Mutation_p.R316Q|NR4A1_uc009zmc.2_5'Flank	p.R316Q	NM_002135	NP_002126	P22736	NR4A1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	4	1261	+			316			NR C4-type.|Nuclear receptor.		B4DML7|Q15627|Q53Y00|Q6IBU8	Missense_Mutation	SNP	ENST00000243050.1	37	c.947G>A	CCDS8818.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.450998|5.450998	0.96205|0.96205	.|.	.|.	ENSG00000123358|ENSG00000123358	ENST00000550763|ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000394824	T|D;D;D;D;D;D	0.45668|0.98958	0.89|-5.27;-5.27;-5.27;-5.27;-5.27;-5.27	4.27|4.27	4.27|4.27	0.50696|0.50696	.|Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99387|0.99387	0.9784|0.9784	H|H	0.95365|0.95365	3.66|3.66	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.997;1.0	D|D	0.98294|0.98294	1.0515|1.0515	7|10	0.37606|0.87932	T|D	0.19|0	.|.	16.6594|16.6594	0.85237|0.85237	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|329;316	.|B4DML7;P22736	.|.;NR4A1_HUMAN	K|Q	132|329;370;329;316;316;316	ENSP00000449858:E132K|ENSP00000353427:R329Q;ENSP00000440864:R370Q;ENSP00000449539:R329Q;ENSP00000243050:R316Q;ENSP00000378302:R316Q;ENSP00000378301:R316Q	ENSP00000449858:E132K|ENSP00000243050:R316Q	E|R	+|+	1|2	0|0	NR4A1|NR4A1	50736151|50736151	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.530000|9.530000	0.98051|0.98051	2.667000|2.667000	0.90743|0.90743	0.561000|0.561000	0.74099|0.74099	GAA|CGA		0.632	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2				22	96	0	0	0	0.062417	0	22	96		
NAB2	4665	broad.mit.edu	37	12	57485744	57485744	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:57485744C>G	ENST00000300131.3	+	2	1298	c.920C>G	c.(919-921)tCt>tGt	p.S307C	NAB2_ENST00000357680.4_Missense_Mutation_p.S307C|NAB2_ENST00000342556.6_Missense_Mutation_p.S307C	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	307	NCD2.				cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CGTTTCGACTCTAAGCGGCGG	0.567																																						uc001smz.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(919-921)TCT>TGT		NGFI-A binding protein 2							65.0	66.0	65.0					12																	57485744		2203	4300	6503	SO:0001583	missense	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57485744C>G	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.920C>G	12.37:g.57485744C>G	ENSP00000300131:p.Ser307Cys						p.S307C	NM_005967	NP_005958	Q15742	NAB2_HUMAN			2	1298	+			307			NCD2.		B2RAK3|O76006|Q14797	Missense_Mutation	SNP	ENST00000300131.3	37	c.920C>G	CCDS8930.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.370805	0.42003	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	.	.	.	5.16	5.16	0.70880	NAB co-repressor, domain (1);	0.000000	0.64402	D	0.000001	T	0.61850	0.2380	N	0.16903	0.455	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	T	0.64149	-0.6475	9	0.41790	T	0.15	-14.394	16.131	0.81442	0.0:1.0:0.0:0.0	.	307	Q15742	NAB2_HUMAN	C	307	.	ENSP00000300131:S307C	S	+	2	0	NAB2	55772011	1.000000	0.71417	0.995000	0.50966	0.735000	0.41995	7.732000	0.84908	2.399000	0.81585	0.561000	0.74099	TCT		0.567	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1		NM_005967		4	97	0	0	0	0.009096	0	4	97		
TBK1	29110	broad.mit.edu	37	12	64875732	64875732	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:64875732G>A	ENST00000331710.5	+	8	1262	c.923G>A	c.(922-924)cGa>cAa	p.R308Q		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	308	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		ATACTTCACCGAATGGTAATT	0.348																																						uc001ssc.1		NaN																	0				central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1)	5						c.(922-924)CGA>CAA		TANK-binding kinase 1							94.0	86.0	89.0					12																	64875732		2203	4300	6503	SO:0001583	missense	29110				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr12:64875732G>A	AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.923G>A	12.37:g.64875732G>A	ENSP00000329967:p.Arg308Gln						p.R308Q	NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN		GBM - Glioblastoma multiforme(28;0.0386)	8	985	+			308			Protein kinase.		A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	ENST00000331710.5	37	c.923G>A	CCDS8968.1	.	.	.	.	.	.	.	.	.	.	G	34	5.355267	0.95854	.	.	ENSG00000183735	ENST00000331710	T	0.69175	-0.38	5.16	5.16	0.70880	Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78059	0.4224	L	0.58810	1.83	0.80722	D	1	D	0.76494	0.999	P	0.62885	0.908	T	0.76710	-0.2859	9	.	.	.	-6.0167	19.0272	0.92937	0.0:0.0:1.0:0.0	.	308	Q9UHD2	TBK1_HUMAN	Q	308	ENSP00000329967:R308Q	.	R	+	2	0	TBK1	63161999	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.219000	0.95173	2.579000	0.87056	0.460000	0.39030	CGA		0.348	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1		NM_013254		10	27	0	0	0	0.058154	0	10	27		
VEZT	55591	broad.mit.edu	37	12	95656756	95656756	+	Silent	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:95656756G>T	ENST00000436874.1	+	4	438	c.333G>T	c.(331-333)ctG>ctT	p.L111L	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Silent_p.L63L	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	111					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						ATGTGGAGCTGATTGAGCTAC	0.453																																						uc001tdz.2		NaN																	0				ovary(1)	1						c.(331-333)CTG>CTT		vezatin, adherens junctions transmembrane							158.0	155.0	156.0					12																	95656756		1930	4154	6084	SO:0001819	synonymous_variant	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95656756G>T	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.333G>T	12.37:g.95656756G>T						VEZT_uc009zsy.1_Intron|VEZT_uc001tdr.2_Intron|VEZT_uc001tds.2_Silent_p.L63L|VEZT_uc001tdt.2_Silent_p.L63L|VEZT_uc009zsz.1_Silent_p.L111L|VEZT_uc001tdv.2_Silent_p.L80L|VEZT_uc001tdw.1_Silent_p.L63L|VEZT_uc009zta.1_Silent_p.L63L	p.L111L	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN			4	438	+			111					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Silent	SNP	ENST00000436874.1	37	c.333G>T	CCDS44954.1																																																																																				0.453	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2		NM_017599		38	108	1	0	9.45814e-24	0.074837	1.07221e-23	38	108		
RB1	5925	broad.mit.edu	37	13	49050981	49050981	+	Splice_Site	SNP	T	T	C	rs587778839		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr13:49050981T>C	ENST00000267163.4	+	25	2801		c.e25+2		RB1_ENST00000484879.1_Splice_Site	NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						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.?(11)		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)"""	AGATGGAAGGTAGGAACCAGT	0.453		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		26	Whole gene deletion(15)|Unknown(11)	p.?(7)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(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.e25+2		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						115.0	111.0	112.0					13																	49050981		2203	4300	6503	SO:0001630	splice_region_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.chr13:49050981T>C	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.2663+2T>C	13.37:g.49050981T>C		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.S888_splice	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	25	2829	+		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)						A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	ENST00000267163.4	37	c.2663_splice	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.176591	0.78564	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8743	0.79151	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47948982	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.109000	0.77062	2.220000	0.72140	0.482000	0.46254	.		0.453	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			Intron	25	74	0	0	0	0.108266	0	25	74		
NALCN	259232	broad.mit.edu	37	13	101720314	101720314	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr13:101720314G>A	ENST00000251127.6	-	39	4483	c.4402C>T	c.(4402-4404)Cgc>Tgc	p.R1468C		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1468					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGAAAGTGGCGAAGATCATTG	0.363																																						uc001vox.1		NaN																	0				ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(4402-4404)CGC>TGC		voltage gated channel like 1							131.0	126.0	128.0					13																	101720314		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101720314G>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4402C>T	13.37:g.101720314G>A	ENSP00000251127:p.Arg1468Cys						p.R1468C	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			39	4591	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1468			Cytoplasmic (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.4402C>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.683157	0.68157	.	.	ENSG00000102452	ENST00000251127	D	0.97994	-4.65	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.98115	0.9378	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98539	1.0631	10	0.87932	D	0	.	14.9252	0.70871	0.0:0.0:0.8234:0.1766	.	1468	Q8IZF0	NALCN_HUMAN	C	1468	ENSP00000251127:R1468C	ENSP00000251127:R1468C	R	-	1	0	NALCN	100518315	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	5.709000	0.68384	2.788000	0.95919	0.650000	0.86243	CGC		0.363	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2		NM_052867		4	56	0	0	0	0.009096	0	4	56		
TPP2	7174	broad.mit.edu	37	13	103249446	103249446	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr13:103249446G>A	ENST00000376065.4	+	1	94	c.58G>A	c.(58-60)Gag>Aag	p.E20K	TPP2_ENST00000376052.3_Missense_Mutation_p.E20K	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	20					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCCGAAGAAGGAGACCGGAGC	0.677																																						uc001vpi.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(58-60)GAG>AAG		tripeptidyl peptidase II							14.0	18.0	17.0					13																	103249446		2199	4289	6488	SO:0001583	missense	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103249446G>A	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.58G>A	13.37:g.103249446G>A	ENSP00000365233:p.Glu20Lys						p.E20K	NM_003291	NP_003282	P29144	TPP2_HUMAN			1	161	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		20					Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	c.58G>A	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	G	36	5.654194	0.96724	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.37	4.51	0.55191	Peptidase S8/S53, subtilisin/kexin/sedolisin (1);	0.055202	0.64402	D	0.000001	T	0.79913	0.4528	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.82967	-0.0194	9	0.72032	D	0.01	.	13.4746	0.61301	0.0747:0.0:0.9253:0.0	.	20	P29144	TPP2_HUMAN	K	20	.	ENSP00000365220:E20K	E	+	1	0	TPP2	102047447	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.562000	0.73960	2.510000	0.84645	0.650000	0.86243	GAG		0.677	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2				10	29	0	0	0	0.069234	0	10	29		
CHAMP1	283489	broad.mit.edu	37	13	115089871	115089871	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr13:115089871C>T	ENST00000361283.1	+	3	863	c.554C>T	c.(553-555)cCt>cTt	p.P185L		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	185	Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										GTTTCTTCTCCTGAACCTCCA	0.507																																						uc010ahb.2		NaN																	0				ovary(2)	2						c.(553-555)CCT>CTT		zinc finger protein 828							128.0	137.0	134.0					13																	115089871		2203	4300	6503	SO:0001583	missense	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115089871C>T	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.554C>T	13.37:g.115089871C>T	ENSP00000354730:p.Pro185Leu					ZNF828_uc001vuv.2_Missense_Mutation_p.P185L|ZNF828_uc010tko.1_Missense_Mutation_p.P185L	p.P185L	NM_001164144	NP_001157616	Q96JM3	ZN828_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.104)	OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197)	3	883	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_epithelial(44;0.122)|all_lung(25;0.123)	185			Pro-rich.		B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	37	c.554C>T	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701756	0.68501	.	.	ENSG00000198824	ENST00000361283	T	0.01265	5.08	6.0	5.16	0.70880	.	0.000000	0.53938	D	0.000045	T	0.01661	0.0053	L	0.29908	0.895	0.54753	D	0.999989	B	0.12630	0.006	B	0.17433	0.018	T	0.60161	-0.7317	9	.	.	.	-18.3628	15.1093	0.72343	0.0:0.9324:0.0:0.0676	.	185	Q96JM3	ZN828_HUMAN	L	185	ENSP00000354730:P185L	.	P	+	2	0	ZNF828	114107973	0.005000	0.15991	0.948000	0.38648	0.990000	0.78478	1.381000	0.34362	1.547000	0.49401	0.655000	0.94253	CCT		0.507	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2		NM_032436		42	156	0	0	0	0.11126	0	42	156		
TMEM260	54916	broad.mit.edu	37	14	57052563	57052563	+	Missense_Mutation	SNP	C	C	T	rs144727961	byFrequency	TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr14:57052563C>T	ENST00000261556.6	+	3	399	c.277C>T	c.(277-279)Cgc>Tgc	p.R93C	TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000538838.1_Missense_Mutation_p.R93C	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	93						integral component of membrane (GO:0016021)		p.R93C(1)									AATTGCCTACCGCGTCAATCT	0.403													C|||	2	0.000399361	0.0	0.0	5008	,	,		19755	0.002		0.0	False		,,,				2504	0.0					uc001xcm.2		NaN																	1	Substitution - Missense(1)		endometrium(1)	breast(1)|central_nervous_system(1)	2						c.(277-279)CGC>TGC		hypothetical protein LOC54916		C	CYS/ARG	0,4406		0,0,2203	254.0	220.0	232.0		277	3.7	1.0	14	dbSNP_134	232	1,8599	1.2+/-3.3	0,1,4299	yes	missense	C14orf101	NM_017799.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	93/708	57052563	1,13005	2203	4300	6503	SO:0001583	missense	54916					integral to membrane		g.chr14:57052563C>T	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.277C>T	14.37:g.57052563C>T	ENSP00000261556:p.Arg93Cys					C14orf101_uc001xcj.2_RNA|C14orf101_uc001xck.2_Missense_Mutation_p.R93C|C14orf101_uc010aot.1_Missense_Mutation_p.R93C|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_5'UTR	p.R93C	NM_017799	NP_060269	Q9NX78	CN101_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;0.226)	3	399	+			93					A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	ENST00000261556.6	37	c.277C>T	CCDS9727.2	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	16.14	3.037709	0.54896	0.0	1.16E-4	ENSG00000070269	ENST00000556810;ENST00000261556;ENST00000538838	T;T	0.54279	1.19;0.58	5.58	3.7	0.42460	.	0.116963	0.56097	D	0.000026	T	0.71829	0.3386	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.72465	-0.4285	10	0.39692	T	0.17	-13.6441	13.5034	0.61471	0.4102:0.5898:0.0:0.0	.	93	Q9NX78	CN101_HUMAN	C	56;93;93	ENSP00000261556:R93C;ENSP00000441934:R93C	ENSP00000261556:R93C	R	+	1	0	C14orf101	56122316	1.000000	0.71417	0.984000	0.44739	0.949000	0.60115	2.810000	0.47979	0.664000	0.31047	0.563000	0.77884	CGC		0.403	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1		NM_017799		21	50	0	0	0	0.069288	0	21	50		
ALKBH1	8846	broad.mit.edu	37	14	78140190	78140190	+	Missense_Mutation	SNP	C	C	T	rs146924402		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr14:78140190C>T	ENST00000216489.3	-	6	1150	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	379					developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CGTTTTACTTCGCTATTCTGG	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		22842	0.0		0.0	False		,,,				2504	0.001					uc001xuc.1		NaN																	0				ovary(1)|skin(1)	2						c.(1135-1137)GAA>AAA		alkylated DNA repair protein alkB homolog		C	LYS/GLU	7,4399	12.9+/-30.5	0,7,2196	172.0	156.0	162.0		1135	3.0	0.0	14	dbSNP_134	162	0,8600		0,0,4300	yes	missense	ALKBH1	NM_006020.2	56	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	benign	379/390	78140190	7,12999	2203	4300	6503	SO:0001583	missense	8846				DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr14:78140190C>T	X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"""Alkylation repair homologs"""	17911	protein-coding gene	gene with protein product		605345	"""alkB, alkylation repair homolog (E. coli)"""	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.1135G>A	14.37:g.78140190C>T	ENSP00000216489:p.Glu379Lys					ALKBH1_uc001xud.1_RNA	p.E379K	NM_006020	NP_006011	Q13686	ALKB1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	6	1144	-			379					Q8TAU1|Q9ULA7	Missense_Mutation	SNP	ENST00000216489.3	37	c.1135G>A	CCDS32127.1	.	.	.	.	.	.	.	.	.	.	C	9.665	1.145240	0.21288	0.001589	0.0	ENSG00000100601	ENST00000216489	T	0.29397	1.57	5.91	2.95	0.34219	.	1.463730	0.03744	N	0.255545	T	0.19967	0.0480	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.19353	-1.0308	10	0.11182	T	0.66	-25.2882	9.8761	0.41205	0.0:0.2999:0.4709:0.2292	.	379	Q13686	ALKB1_HUMAN	K	379	ENSP00000216489:E379K	ENSP00000216489:E379K	E	-	1	0	ALKBH1	77209943	0.010000	0.17322	0.041000	0.18516	0.592000	0.36648	1.321000	0.33678	0.877000	0.35895	-0.739000	0.03532	GAA		0.463	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414037.1		NM_006020		27	44	0	0	0	0.099896	0	27	44		
CDC42BPB	9578	broad.mit.edu	37	14	103426018	103426018	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr14:103426018T>C	ENST00000361246.2	-	21	3139	c.2851A>G	c.(2851-2853)Att>Gtt	p.I951V		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TACTCAAAAATGGAATCCTGA	0.333																																						uc001ymi.1		NaN																	0				large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11						c.(2851-2853)ATT>GTT		CDC42-binding protein kinase beta							58.0	57.0	58.0					14																	103426018		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103426018T>C	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.2851A>G	14.37:g.103426018T>C	ENSP00000355237:p.Ile951Val					CDC42BPB_uc001ymj.1_Missense_Mutation_p.I79V	p.I951V	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	21	3083	-		Melanoma(154;0.155)	951						Missense_Mutation	SNP	ENST00000361246.2	37	c.2851A>G	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.476811	0.44044	.	.	ENSG00000198752	ENST00000361246;ENST00000541396	T	0.64085	-0.08	5.96	3.62	0.41486	Myotonic dystrophy protein kinase, coiled coil (1);	0.153544	0.64402	N	0.000020	T	0.57330	0.2046	M	0.62723	1.935	0.53688	D	0.999979	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.53585	-0.8418	10	0.54805	T	0.06	.	10.2724	0.43491	0.0:0.133:0.0:0.867	.	951;951	A9JR72;Q9Y5S2	.;MRCKB_HUMAN	V	951;88	ENSP00000355237:I951V	ENSP00000355237:I951V	I	-	1	0	CDC42BPB	102495771	1.000000	0.71417	0.462000	0.27118	0.986000	0.74619	4.871000	0.63042	0.511000	0.28236	0.533000	0.62120	ATT		0.333	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1		NM_006035		15	4	0	0	0	0.038395	0	15	4		
HERC2	8924	broad.mit.edu	37	15	28456242	28456242	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr15:28456242G>A	ENST00000261609.7	-	44	7083	c.6975C>T	c.(6973-6975)atC>atT	p.I2325I		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTGCTTTCAGGATGTATAGCT	0.577																																						uc001zbj.2		NaN																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(6973-6975)ATC>ATT		hect domain and RLD 2							51.0	47.0	48.0					15																	28456242		2202	4298	6500	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28456242G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6975C>T	15.37:g.28456242G>A							p.I2325I	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	44	7081	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2325						Silent	SNP	ENST00000261609.7	37	c.6975C>T	CCDS10021.1																																																																																				0.577	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2		NM_004667		30	48	0	0	0	0.059317	0	30	48		
ICE2	79664	broad.mit.edu	37	15	60740312	60740312	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr15:60740312C>G	ENST00000261520.4	-	11	2386	c.2152G>C	c.(2152-2154)Gat>Cat	p.D718H	NARG2_ENST00000439632.1_Missense_Mutation_p.D581H	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TCCGATGTATCTTCAACATAG	0.363																																						uc002agp.2		NaN																	0				ovary(1)|lung(1)	2						c.(2152-2154)GAT>CAT		NMDA receptor regulated 2 isoform a							66.0	62.0	64.0					15																	60740312		2203	4300	6503	SO:0001583	missense	79664					nucleus		g.chr15:60740312C>G																												ENST00000261520.4:c.2152G>C	15.37:g.60740312C>G	ENSP00000261520:p.Asp718His					NARG2_uc002ago.2_Missense_Mutation_p.D581H|NARG2_uc002agq.3_Intron	p.D718H	NM_024611	NP_078887	Q659A1	NARG2_HUMAN			11	2387	-			718						Missense_Mutation	SNP	ENST00000261520.4	37	c.2152G>C	CCDS10176.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846093	0.71603	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	5.99	4.89	0.63831	NMDA receptor-regulated gene protein 2 (1);	0.046381	0.85682	D	0.000000	T	0.69441	0.3111	L	0.50333	1.59	0.43657	D	0.996078	D	0.89917	1.0	D	0.75484	0.986	T	0.70568	-0.4836	9	0.72032	D	0.01	-26.6731	13.3661	0.60684	0.0:0.915:0.0:0.085	.	718	Q659A1	NARG2_HUMAN	H	718;581	.	ENSP00000261520:D718H	D	-	1	0	NARG2	58527604	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.985000	0.40668	2.831000	0.97527	0.650000	0.86243	GAT		0.363	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1				20	36	0	0	0	0.043863	0	20	36		
CCDC78	124093	broad.mit.edu	37	16	775574	775574	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:775574G>A	ENST00000293889.6	-	4	379	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	HAGHL_ENST00000561546.1_5'Flank|HAGHL_ENST00000564545.1_5'Flank|HAGHL_ENST00000564537.1_5'Flank|HAGHL_ENST00000389703.3_5'Flank|HAGHL_ENST00000341413.4_5'Flank|HAGHL_ENST00000549114.1_5'Flank	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	92					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)|skeletal muscle contraction (GO:0003009)	centriole (GO:0005814)|deuterosome (GO:0098536)|perinuclear region of cytoplasm (GO:0048471)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				CTCTCCAGCCGAAGGATCTGT	0.677																																						uc002cjg.2		NaN																	0				central_nervous_system(1)	1						c.(274-276)CGG>TGG		coiled-coil domain containing 78							37.0	37.0	37.0					16																	775574		2193	4297	6490	SO:0001583	missense	124093							g.chr16:775574G>A	BC042110	CCDS32353.1	16p13.3	2014-07-15		2006-02-20	ENSG00000162004	ENSG00000162004			14153	protein-coding gene	gene with protein product		614666		C16orf25		24075808	Standard	NM_001031737		Approved	FLJ34512	uc002cjg.3	A2IDD5	OTTHUMG00000121176	ENST00000293889.6:c.274C>T	16.37:g.775574G>A	ENSP00000293889:p.Arg92Trp					CCDC78_uc002cjf.2_5'Flank|CCDC78_uc002cji.3_Missense_Mutation_p.R166W|CCDC78_uc002cjj.3_Intron|CCDC78_uc002cjh.2_5'UTR|CCDC78_uc010uuo.1_Missense_Mutation_p.R92W|CCDC78_uc002cjk.2_Missense_Mutation_p.R92W|HAGHL_uc002cjl.1_5'Flank|HAGHL_uc002cjm.1_5'Flank|HAGHL_uc002cjn.1_5'Flank|HAGHL_uc002cjo.1_5'Flank|HAGHL_uc010uup.1_5'Flank	p.R92W	NM_001031737	NP_001026907	A2IDD5	CCD78_HUMAN			4	380	-		Hepatocellular(780;0.0218)	92			Potential.		B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	Missense_Mutation	SNP	ENST00000293889.6	37	c.274C>T	CCDS32353.1	.	.	.	.	.	.	.	.	.	.	G	4.851	0.158207	0.09236	.	.	ENSG00000162004	ENST00000293889	T	0.48201	0.82	4.83	0.228	0.15364	.	0.789478	0.11175	N	0.591611	T	0.26846	0.0657	N	0.17082	0.46	0.19945	N	0.999947	B;B;B;B	0.17667	0.023;0.023;0.01;0.003	B;B;B;B	0.06405	0.002;0.002;0.001;0.002	T	0.17961	-1.0352	10	0.51188	T	0.08	-28.1705	4.2574	0.10724	0.2978:0.0:0.5432:0.159	.	92;92;166;92	A2IDD5-4;A2IDD5-6;A2IDD5-5;A2IDD5	.;.;.;CCD78_HUMAN	W	92	ENSP00000293889:R92W	ENSP00000293889:R92W	R	-	1	2	CCDC78	715575	0.000000	0.05858	0.947000	0.38551	0.003000	0.03518	-0.193000	0.09573	0.197000	0.20387	-1.407000	0.01130	CGG		0.677	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241665.3		NM_173476		12	43	0	0	0	0.09319	0	12	43		
CEMP1	752014	broad.mit.edu	37	16	2580885	2580885	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:2580885C>T	ENST00000567119.1	-	1	524	c.190G>A	c.(190-192)Gtg>Atg	p.V64M	CEMP1_ENST00000565480.1_Intron|CEMP1_ENST00000382350.1_Missense_Mutation_p.V64M|AMDHD2_ENST00000413459.3_3'UTR|MIR3178_ENST00000581887.1_RNA|AMDHD2_ENST00000565570.1_3'UTR|AMDHD2_ENST00000302956.4_3'UTR	NM_001048212.3	NP_001041677.1	Q6PRD7	CEMP1_HUMAN	cementum protein 1	64						cytoplasm (GO:0005737)				lung(1)|skin(1)	2						GGGATACCCACCTCTGCCTTG	0.662																																						uc002cqr.2		NaN																	0				skin(1)	1						c.(190-192)GTG>ATG		cementum protein 1							44.0	52.0	49.0					16																	2580885		2043	4180	6223	SO:0001583	missense	752014					cytoplasm		g.chr16:2580885C>T	AY584596	CCDS42108.1	16p13.3	2006-09-22							32553	protein-coding gene	gene with protein product	"""cementum protein-23"""	611113				16263347	Standard	NM_001048212		Approved	CP-23	uc002cqr.3	Q6PRD7		ENST00000567119.1:c.190G>A	16.37:g.2580885C>T	ENSP00000457380:p.Val64Met					AMDHD2_uc010uwc.1_3'UTR|AMDHD2_uc010uwd.1_3'UTR	p.V64M	NM_001048212	NP_001041677	Q6PRD7	CEMP1_HUMAN			1	546	-			64					B2RUY1	Missense_Mutation	SNP	ENST00000567119.1	37	c.190G>A	CCDS42108.1	.	.	.	.	.	.	.	.	.	.	C	3.112	-0.182457	0.06340	.	.	ENSG00000205923	ENST00000382350	T	0.55930	0.49	1.3	-1.16	0.09678	.	.	.	.	.	T	0.21387	0.0515	N	0.08118	0	0.09310	N	1	P	0.39022	0.655	B	0.24848	0.056	T	0.13710	-1.0499	9	0.87932	D	0	.	2.7022	0.05152	0.2308:0.3209:0.4483:0.0	.	64	Q6PRD7	CEMP1_HUMAN	M	64	ENSP00000371787:V64M	ENSP00000371787:V64M	V	-	1	0	CEMP1	2520886	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.562000	0.05950	-0.297000	0.08934	-0.270000	0.10280	GTG		0.662	CEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435686.1		NM_001048212		17	45	0	0	0	0.049695	0	17	45		
ZSCAN10	84891	broad.mit.edu	37	16	3139654	3139654	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:3139654G>A	ENST00000252463.2	-	5	1703	c.1616C>T	c.(1615-1617)gCc>gTc	p.A539V	ZSCAN10_ENST00000538082.2_Missense_Mutation_p.A457V|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.A200V|RP11-473M20.9_ENST00000571404.1_lincRNA	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	539					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CAGGTGGCGGGCAAGGCTGGC	0.706																																						uc002ctv.1		NaN																	0				ovary(1)	1						c.(1615-1617)GCC>GTC		zinc finger and SCAN domain containing 10							8.0	8.0	8.0					16																	3139654		2158	4223	6381	SO:0001583	missense	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3139654G>A	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.1616C>T	16.37:g.3139654G>A	ENSP00000252463:p.Ala539Val					ZSCAN10_uc002cty.1_Missense_Mutation_p.A200V|ZSCAN10_uc002ctw.1_Missense_Mutation_p.A457V|ZSCAN10_uc002ctx.1_Missense_Mutation_p.A467V	p.A539V	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN			5	1704	-			539			C2H2-type 8.		B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	c.1616C>T	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	G	4.733	0.136392	0.09032	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.16897	2.31	5.34	5.34	0.76211	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000099	T	0.21387	0.0515	N	0.13003	0.285	0.09310	N	0.999998	D;P;D	0.71674	0.998;0.888;0.988	D;B;P	0.68765	0.96;0.218;0.607	T	0.15492	-1.0435	10	0.26408	T	0.33	-27.6492	11.6059	0.51031	0.0:0.0:0.8221:0.1779	.	200;472;539	Q96SZ4-2;Q1WWM2;Q96SZ4	.;.;ZSC10_HUMAN	V	472;539	ENSP00000252463:A539V	ENSP00000252463:A539V	A	-	2	0	ZSCAN10	3079655	0.000000	0.05858	0.986000	0.45419	0.775000	0.43874	-0.227000	0.09126	2.504000	0.84457	0.561000	0.74099	GCC		0.706	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2		NM_032805		5	19	0	0	0	0.014758	0	5	19		
OTOA	146183	broad.mit.edu	37	16	21696662	21696662	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:21696662G>C	ENST00000286149.4	+	6	380	c.379G>C	c.(379-381)Gaa>Caa	p.E127Q	OTOA_ENST00000388956.4_Missense_Mutation_p.E48Q|OTOA_ENST00000388958.3_Missense_Mutation_p.E127Q			Q7RTW8	OTOAN_HUMAN	otoancorin	127					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		ATGCCTCTTAGAAGACAAGAA	0.557																																						uc002djh.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(379-381)GAA>CAA		otoancorin isoform 1							60.0	55.0	56.0					16																	21696662		2199	4300	6499	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21696662G>C	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.379G>C	16.37:g.21696662G>C	ENSP00000286149:p.Glu127Gln					uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.E48Q	p.E127Q	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	6	380	+			127					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.379G>C		.	.	.	.	.	.	.	.	.	.	G	20.2	3.952569	0.73787	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956	T;T;T	0.12255	2.7;2.7;2.7	5.84	5.84	0.93424	.	0.633748	0.16141	N	0.227728	T	0.20740	0.0499	L	0.54323	1.7	0.80722	D	1	P;P	0.45827	0.867;0.867	B;B	0.44044	0.439;0.439	T	0.00621	-1.1640	10	0.39692	T	0.17	-2.5634	17.649	0.88157	0.0:0.0:1.0:0.0	.	48;127	B3KWU3;E9PF51	.;.	Q	127;127;48	ENSP00000373610:E127Q;ENSP00000286149:E127Q;ENSP00000373608:E48Q	ENSP00000286149:E127Q	E	+	1	0	OTOA	21604163	0.162000	0.22906	0.862000	0.33874	0.809000	0.45718	2.640000	0.46579	2.760000	0.94817	0.655000	0.94253	GAA		0.557	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1				5	56	0	0	0	0.014758	0	5	56		
ZKSCAN2	342357	broad.mit.edu	37	16	25258366	25258366	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:25258366C>T	ENST00000328086.7	-	5	1954	c.1151G>A	c.(1150-1152)tGt>tAt	p.C384Y		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	384					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		AAGGAAGCCACATTCTCGCAA	0.483																																						uc002dod.3		NaN																	0				ovary(3)|breast(1)	4						c.(1150-1152)TGT>TAT		zinc finger with KRAB and SCAN domains 2							128.0	121.0	124.0					16																	25258366		2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25258366C>T	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1151G>A	16.37:g.25258366C>T	ENSP00000331626:p.Cys384Tyr					ZKSCAN2_uc010vcl.1_Missense_Mutation_p.C180Y|ZKSCAN2_uc002doe.2_Missense_Mutation_p.C384Y	p.C384Y	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	5	1558	-			384					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.1151G>A	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.394677	0.25205	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.40756	1.02	5.76	5.76	0.90799	SANT domain, DNA binding (1);	0.000000	0.64402	D	0.000001	T	0.37758	0.1015	N	0.04203	-0.255	0.44316	D	0.99719	D;B;D	0.89917	1.0;0.274;1.0	D;B;D	0.91635	0.999;0.039;0.999	T	0.18272	-1.0342	10	0.02654	T	1	-17.0304	15.8146	0.78589	0.0:1.0:0.0:0.0	.	180;384;384	B4DYF0;Q63HK3-2;Q63HK3	.;.;ZKSC2_HUMAN	Y	384	ENSP00000331626:C384Y	ENSP00000331626:C384Y	C	-	2	0	ZKSCAN2	25165867	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.818000	0.55678	2.882000	0.98803	0.655000	0.94253	TGT		0.483	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1		NM_001012981		94	72	0	0	0	0.048971	0	94	72		
PYDC1	260434	broad.mit.edu	37	16	31228334	31228334	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:31228334C>T	ENST00000302964.3	-	1	346	c.16G>A	c.(16-18)Gag>Aag	p.E6K	PYDC1_ENST00000568383.1_5'Flank|TRIM72_ENST00000322122.3_Intron	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1	6	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of interleukin-1 beta secretion (GO:0050718)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						AGGATGGCCTCGCGCTTCGTT	0.647																																						uc002ebo.2		NaN																	0					0						c.(16-18)GAG>AAG		pyrin domain containing 1							50.0	43.0	45.0					16																	31228334		2197	4300	6497	SO:0001583	missense	260434				innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex|nucleus	cysteine-type endopeptidase activity|protein binding	g.chr16:31228334C>T		CCDS10710.1	16p11.2	2008-02-05	2005-12-02		ENSG00000169900	ENSG00000169900			30261	protein-coding gene	gene with protein product		615700	"""pyrin domain containing 1"""			11786556, 16905547	Standard	NM_152901		Approved	ASC2, POP1	uc002ebo.3	Q8WXC3	OTTHUMG00000132407	ENST00000302964.3:c.16G>A	16.37:g.31228334C>T	ENSP00000304336:p.Glu6Lys					TRIM72_uc002ebn.1_Intron	p.E6K	NM_152901	NP_690865	Q8WXC3	PYDC1_HUMAN			1	65	-			6			DAPIN.		B2R8L4|Q8NFP8	Missense_Mutation	SNP	ENST00000302964.3	37	c.16G>A	CCDS10710.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354892	0.41700	.	.	ENSG00000169900	ENST00000302964	T	0.48522	0.81	3.57	1.59	0.23543	Pyrin (2);DEATH-like (2);	0.164448	0.27922	U	0.017302	T	0.29389	0.0732	.	.	.	0.09310	N	1	B	0.33318	0.408	B	0.24155	0.051	T	0.16364	-1.0405	9	0.59425	D	0.04	.	5.359	0.16077	0.0:0.7328:0.0:0.2672	.	6	Q8WXC3	PYDC1_HUMAN	K	6	ENSP00000304336:E6K	ENSP00000304336:E6K	E	-	1	0	PYDC1	31135835	0.000000	0.05858	0.006000	0.13384	0.078000	0.17371	0.690000	0.25451	0.225000	0.20959	0.561000	0.74099	GAG		0.647	PYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255543.2		NM_152901		5	49	0	0	0	0.02938	0	5	49		
CIRH1A	84916	broad.mit.edu	37	16	69184784	69184784	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:69184784C>G	ENST00000314423.7	+	8	1156	c.979C>G	c.(979-981)Ctc>Gtc	p.L327V	CIRH1A_ENST00000352319.4_Missense_Mutation_p.L327V|CIRH1A_ENST00000563094.1_Missense_Mutation_p.L327V			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	327					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CGATGCCGCTCTCCGAAAAAT	0.522																																					Melanoma(69;1156 1278 4951 8715 52012)	uc002ews.3		NaN																	0					0						c.(979-981)CTC>GTC		cirhin							119.0	100.0	107.0					16																	69184784		2198	4300	6498	SO:0001583	missense	84916					nucleolus	protein binding	g.chr16:69184784C>G	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"""WD repeat domain containing"""	1983	protein-coding gene	gene with protein product	"""UTP4, small subunit (SSU) processome component, homolog (yeast)"""	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.979C>G	16.37:g.69184784C>G	ENSP00000327179:p.Leu327Val					CIRH1A_uc002ewr.2_Missense_Mutation_p.L327V|CIRH1A_uc002ewt.3_Missense_Mutation_p.L244V|CIRH1A_uc010cfi.2_Missense_Mutation_p.L244V|CIRH1A_uc010cfj.1_Missense_Mutation_p.L146V	p.L327V	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	8	1075	+			327			WD 8.		Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	37	c.979C>G	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837558	0.50951	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.28069	1.63;2.75	5.73	3.75	0.43078	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.332110	0.31370	N	0.007773	T	0.26702	0.0653	L	0.43152	1.355	0.47214	D	0.999355	P;P;P	0.48640	0.913;0.726;0.891	P;B;B	0.49829	0.623;0.122;0.359	T	0.30119	-0.9989	10	0.02654	T	1	.	7.3605	0.26744	0.0:0.7137:0.1398:0.1465	.	327;327;327	Q969X6-2;Q969X6;Q969X6-3	.;CIR1A_HUMAN;.	V	327	ENSP00000327179:L327V;ENSP00000339164:L327V	ENSP00000327179:L327V	L	+	1	0	CIRH1A	67742285	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.189000	0.58358	0.735000	0.32537	0.514000	0.50259	CTC		0.522	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2		NM_032830		19	51	0	0	0	0.043863	0	19	51		
HYDIN	54768	broad.mit.edu	37	16	70841650	70841650	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:70841650C>T	ENST00000393567.2	-	86	15349	c.15199G>A	c.(15199-15201)Gag>Aag	p.E5067K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5067					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CGCACAGACTCTCCAGCGCGA	0.512																																						uc002ezr.2		NaN																	0				ovary(1)|skin(1)	2						c.(15196-15198)GAG>AAG		hydrocephalus inducing isoform a							152.0	157.0	155.0					16																	70841650		2056	4199	6255	SO:0001583	missense	54768							g.chr16:70841650C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.15199G>A	16.37:g.70841650C>T	ENSP00000377197:p.Glu5067Lys					HYDIN_uc010cfy.2_RNA	p.E5066K	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			86	15324	-		Ovarian(137;0.0654)	5067					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.15196G>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513557	0.64522	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01059	5.39	6.16	6.16	0.99307	.	0.298946	0.16948	U	0.193022	T	0.03651	0.0104	M	0.82630	2.6	0.80722	D	1	B	0.32862	0.387	B	0.33568	0.166	T	0.53401	-0.8444	10	0.30078	T	0.28	.	20.4549	0.99139	0.0:1.0:0.0:0.0	.	5066	F8WD23	.	K	5067;5066	ENSP00000377197:E5067K	ENSP00000313052:E5066K	E	-	1	0	HYDIN	69399151	0.986000	0.35501	0.128000	0.21923	0.023000	0.10783	3.975000	0.56859	2.937000	0.99478	0.650000	0.86243	GAG		0.512	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3				28	91	0	0	0	0.108266	0	28	91		
PHLPP2	23035	broad.mit.edu	37	16	71682799	71682799	+	Silent	SNP	T	T	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:71682799T>A	ENST00000568954.1	-	19	4344	c.3966A>T	c.(3964-3966)gcA>gcT	p.A1322A	PHLPP2_ENST00000393524.2_Silent_p.A1255A|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000567016.1_Silent_p.A1357A|PHLPP2_ENST00000356272.3_Silent_p.A1322A|PHLPP2_ENST00000360429.3_Intron			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1322					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GCAGTCATAGTGCTGTGTCGA	0.557																																						uc002fax.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(3964-3966)GCA>GCT		PH domain and leucine rich repeat protein							54.0	53.0	53.0					16																	71682799		2198	4300	6498	SO:0001819	synonymous_variant	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71682799T>A	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.3966A>T	16.37:g.71682799T>A						PHLPP2_uc002fav.2_Intron|PHLPP2_uc010cgf.2_Silent_p.A1255A	p.A1322A	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN			18	3972	-			1322					A1L374|Q9NV17|Q9Y2E3	Silent	SNP	ENST00000568954.1	37	c.3966A>T	CCDS32479.1																																																																																				0.557	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1		NM_015020		52	28	0	0	0	0.048971	0	52	28		
OR1A1	8383	broad.mit.edu	37	17	3119784	3119784	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:3119784G>A	ENST00000304094.1	+	1	870	c.870G>A	c.(868-870)ctG>ctA	p.L290L		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TCTACAGTCTGAGAAATCGGG	0.463																																						uc010vrc.1		NaN																	0				ovary(1)|skin(1)	2						c.(868-870)CTG>CTA		olfactory receptor, family 1, subfamily A,							111.0	107.0	108.0					17																	3119784		2203	4300	6503	SO:0001819	synonymous_variant	8383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3119784G>A	AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"""GPCR / Class A : Olfactory receptors"""	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.870G>A	17.37:g.3119784G>A							p.L290L	NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN			1	870	+			290			Helical; Name=7; (Potential).		A5D914|Q6IFM1|Q6NTA9|Q96R87	Silent	SNP	ENST00000304094.1	37	c.870G>A	CCDS11022.1																																																																																				0.463	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207292.1		NM_014565		38	104	0	0	0	0.080422	0	38	104		
CAMTA2	23125	broad.mit.edu	37	17	4883062	4883062	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:4883062G>A	ENST00000348066.3	-	9	1678	c.1555C>T	c.(1555-1557)Cca>Tca	p.P519S	CAMTA2_ENST00000572543.1_Missense_Mutation_p.P524S|CAMTA2_ENST00000414043.3_Missense_Mutation_p.P542S|CAMTA2_ENST00000571831.1_5'Flank|CAMTA2_ENST00000358183.4_Missense_Mutation_p.P519S|CAMTA2_ENST00000361571.5_Missense_Mutation_p.P518S|CAMTA2_ENST00000381311.5_Missense_Mutation_p.P521S	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	519					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GGGATGCTTGGAGCTTCGTCA	0.557																																						uc002gah.1		NaN																	0				ovary(1)	1						c.(1555-1557)CCA>TCA		calmodulin binding transcription activator 2							133.0	132.0	132.0					17																	4883062		2203	4300	6503	SO:0001583	missense	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4883062G>A	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.1555C>T	17.37:g.4883062G>A	ENSP00000321813:p.Pro519Ser					CAMTA2_uc010cku.1_Missense_Mutation_p.P542S|CAMTA2_uc002gag.1_Missense_Mutation_p.P518S|CAMTA2_uc002gai.1_Missense_Mutation_p.P521S|CAMTA2_uc010ckv.1_Missense_Mutation_p.P166S|CAMTA2_uc010vsu.1_Missense_Mutation_p.P332S	p.P519S	NM_015099	NP_055914	O94983	CMTA2_HUMAN			9	1663	-			519					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	37	c.1555C>T	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	G	3.939	-0.014518	0.07681	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.30981	2.73;1.74;1.51;1.74;1.52	4.79	2.8	0.32819	.	0.141344	0.47852	D	0.000220	T	0.21347	0.0514	L	0.38175	1.15	0.09310	N	1	B;B;B;B;B	0.30686	0.002;0.104;0.29;0.191;0.001	B;B;B;B;B	0.30782	0.002;0.024;0.12;0.056;0.003	T	0.16867	-1.0388	10	0.20519	T	0.43	-4.4393	9.3137	0.37921	0.0816:0.2759:0.6424:0.0	.	495;542;521;519;518	B7ZM30;E7EWU5;O94983-3;O94983;O94983-4	.;.;.;CMTA2_HUMAN;.	S	542;521;518;519;519	ENSP00000412886:P542S;ENSP00000370712:P521S;ENSP00000354828:P518S;ENSP00000350910:P519S;ENSP00000321813:P519S	ENSP00000321813:P519S	P	-	1	0	CAMTA2	4823786	1.000000	0.71417	0.259000	0.24435	0.205000	0.24178	1.057000	0.30492	0.337000	0.23665	-0.795000	0.03280	CCA		0.557	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1		NM_015099		45	109	0	0	0	0.042209	0	45	109		
TP53	7157	broad.mit.edu	37	17	7577084	7577084	+	Missense_Mutation	SNP	T	T	A	rs121912667		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:7577084T>A	ENST00000269305.4	-	8	1043	c.854A>T	c.(853-855)gAg>gTg	p.E285V	TP53_ENST00000455263.2_Missense_Mutation_p.E285V|TP53_ENST00000420246.2_Missense_Mutation_p.E285V|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.E285V|TP53_ENST00000359597.4_Missense_Mutation_p.E285V	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	285	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:1694291}.|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (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.E285V(15)|p.0?(8)|p.E285G(5)|p.?(2)|p.E285A(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)	ATTCTCTTCCTCTGTGCGCCG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		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		46	Substitution - Missense(22)|Deletion - Frameshift(8)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	p.E285K(95)|p.E285*(16)|p.E285V(13)|p.0?(7)|p.E285Q(4)|p.E285E(3)|p.E285G(3)|p.E285A(2)|p.?(2)|p.R283fs*16(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.E285fs*20(1)	liver(7)|upper_aerodigestive_tract(5)|lung(5)|soft_tissue(4)|central_nervous_system(4)|bone(4)|large_intestine(3)|stomach(3)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|biliary_tract(1)|salivary_gland(1)|skin(1)|ovary(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	CM083790	TP53	M	rs121912667	c.(853-855)GAG>GTG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							92.0	79.0	83.0					17																	7577084		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577084T>A	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.854A>T	17.37:g.7577084T>A	ENSP00000269305:p.Glu285Val	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E285V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E153V|TP53_uc010cng.1_Missense_Mutation_p.E153V|TP53_uc002gii.1_Missense_Mutation_p.E153V|TP53_uc010cnh.1_Missense_Mutation_p.E285V|TP53_uc010cni.1_Missense_Mutation_p.E285V|TP53_uc002gij.2_Missense_Mutation_p.E285V	p.E285V	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1048	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	285		E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.854A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.367808	0.82463	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99825	-6.97;-6.97;-6.97;-6.97;-6.97;-6.97	4.99	4.99	0.66335	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	M	0.84846	2.72	0.80722	D	1	D;D;D;D	0.76494	0.999;0.994;0.999;0.999	D;D;D;D	0.85130	0.994;0.976;0.994;0.997	D	0.96880	0.9645	10	0.87932	D	0	-38.0538	12.6799	0.56916	0.0:0.0:0.0:1.0	.	285;285;285;285	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	V	285;285;285;285;285;274;153	ENSP00000352610:E285V;ENSP00000269305:E285V;ENSP00000398846:E285V;ENSP00000391127:E285V;ENSP00000391478:E285V;ENSP00000425104:E153V	ENSP00000269305:E285V	E	-	2	0	TP53	7517809	1.000000	0.71417	0.939000	0.37840	0.649000	0.38597	7.802000	0.85969	2.085000	0.62840	0.379000	0.24179	GAG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		30	36	0	0	0	0.034045	0	30	36		
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W	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	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		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		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(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	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)CGG>TGG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83.0	71.0	75.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577094G>A	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.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	p.R282W	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1038	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.844C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		23	31	0	0	0	0.062417	0	23	31		
RPL26	6154	broad.mit.edu	37	17	8285552	8285552	+	Missense_Mutation	SNP	C	C	T	rs11542516		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:8285552C>T	ENST00000584164.1	-	2	468	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	RP11-849F2.5_ENST00000579904.1_RNA|RPL26_ENST00000585176.1_Intron|RPL26_ENST00000293842.5_Missense_Mutation_p.R26Q|RP11-849F2.5_ENST00000585181.1_RNA|RPL26_ENST00000582556.1_Missense_Mutation_p.R26Q|RP11-849F2.7_ENST00000582471.1_Missense_Mutation_p.R26Q|RPL26_ENST00000578812.1_Missense_Mutation_p.R26Q|RPL26_ENST00000583011.1_Missense_Mutation_p.R26Q			P61254	RL26_HUMAN	ribosomal protein L26	26					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			skin(1)|urinary_tract(1)	2						AATCTTCCTTCGAATGTGGGA	0.418																																						uc002glh.1		NaN																	0					0						c.(76-78)CGA>CAA		ribosomal protein L26							90.0	80.0	83.0					17																	8285552		2203	4300	6503	SO:0001583	missense	6154				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr17:8285552C>T		CCDS11142.1	17p13	2011-04-06			ENSG00000161970	ENSG00000161970		"""L ribosomal proteins"""	10327	protein-coding gene	gene with protein product		603704				8479925	Standard	XM_005256749		Approved	L26	uc002glh.1	P61254	OTTHUMG00000108191	ENST00000584164.1:c.77G>A	17.37:g.8285552C>T	ENSP00000463784:p.Arg26Gln						p.R26Q	NM_000987	NP_000978	P61254	RL26_HUMAN			2	173	-			26					B2R4F0|D3DTR8|Q02877|Q6IPY2	Missense_Mutation	SNP	ENST00000584164.1	37	c.77G>A	CCDS11142.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442493	0.63067	.	.	ENSG00000161970	ENST00000293842	.	.	.	5.17	4.2	0.49525	Translation protein SH3-like (1);Ribosomal protein L24, SH3-like (1);	0.049530	0.85682	D	0.000000	T	0.58991	0.2161	M	0.85542	2.76	0.58432	D	0.999999	P	0.45212	0.853	B	0.37304	0.246	T	0.67868	-0.5559	9	0.87932	D	0	-4.7055	11.5704	0.50830	0.0:0.9121:0.0:0.0879	.	26	P61254	RL26_HUMAN	Q	26	.	ENSP00000293842:R26Q	R	-	2	0	RPL26	8226277	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	5.895000	0.69814	1.303000	0.44873	0.643000	0.83706	CGA		0.418	RPL26-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442322.1		NM_000987		11	36	0	0	0	0.069234	0	11	36		
SUPT6H	6830	broad.mit.edu	37	17	27011886	27011886	+	Silent	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:27011886G>T	ENST00000314616.6	+	19	2677	c.2394G>T	c.(2392-2394)ctG>ctT	p.L798L	SUPT6H_ENST00000347486.4_Silent_p.L798L	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	798	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCTGCGCCCTGGTCAATGGTG	0.453																																						uc002hby.2		NaN																	0				ovary(2)|skin(1)	3						c.(2392-2394)CTG>CTT		suppressor of Ty 6 homolog							99.0	89.0	92.0					17																	27011886		2203	4300	6503	SO:0001819	synonymous_variant	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27011886G>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.2394G>T	17.37:g.27011886G>T						SUPT6H_uc010crt.2_Silent_p.L798L	p.L798L	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN			19	2484	+	Lung NSC(42;0.00431)		798					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	c.2394G>T	CCDS32596.1																																																																																				0.453	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2		NM_003170		21	46	1	0	7.41877e-09	0.062417	7.90051e-09	21	46		
SUPT6H	6830	broad.mit.edu	37	17	27031334	27031334	+	IGR	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:27031334C>T	ENST00000314616.6	+	0	6518				PROCA1_ENST00000581289.1_Intron|PROCA1_ENST00000301039.2_Missense_Mutation_p.R116Q|PROCA1_ENST00000439862.3_Missense_Mutation_p.R118Q|PROCA1_ENST00000579650.1_5'UTR	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CCAGCCATACCGGAATCGCTC	0.642																																						uc002hcb.3		NaN																	0				ovary(1)	1						c.(352-354)CGG>CAG		protein interacting with cyclin A1							93.0	100.0	98.0					17																	27031334		2203	4300	6503	SO:0001628	intergenic_variant	147011				lipid catabolic process		calcium ion binding|phospholipase A2 activity	g.chr17:27031334C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85			17.37:g.27031334C>T						PROCA1_uc010crv.2_Missense_Mutation_p.R44Q|PROCA1_uc002hca.1_Missense_Mutation_p.R116Q	p.R118Q	NM_152465	NP_689678	Q8NCQ7	PRCA1_HUMAN			4	556	-	Lung NSC(42;0.00431)		144					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.353G>A	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	c	12.52	1.961896	0.34659	.	.	ENSG00000167525	ENST00000301039;ENST00000439862;ENST00000415329;ENST00000422880	T;T	0.04603	3.59;3.59	5.29	4.32	0.51571	Phospholipase A2 (2);	0.148653	0.48767	N	0.000179	T	0.02649	0.0080	N	0.08118	0	0.09310	N	0.999997	P;B;B	0.36874	0.572;0.0;0.0	B;B;B	0.22880	0.042;0.0;0.0	T	0.38090	-0.9677	10	0.62326	D	0.03	-6.381	13.5654	0.61815	0.0:0.9162:0.0:0.0838	.	144;118;116	Q8NCQ7;G5E9R8;Q8NCQ7-2	PRCA1_HUMAN;.;.	Q	116;118;144;118	ENSP00000301039:R116Q;ENSP00000411400:R118Q	ENSP00000301039:R116Q	R	-	2	0	PROCA1	24055461	1.000000	0.71417	0.957000	0.39632	0.018000	0.09664	2.396000	0.44468	0.617000	0.30160	-0.713000	0.03633	CGG		0.642	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2		NM_003170		50	243	0	0	0	0.048971	0	50	243		
ABHD15	116236	broad.mit.edu	37	17	27893269	27893269	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:27893269C>G	ENST00000307201.4	-	1	886	c.716G>C	c.(715-717)gGc>gCc	p.G239A	RP11-68I3.2_ENST00000581474.1_RNA|TP53I13_ENST00000301057.7_5'Flank	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	239						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						CAGCGCCGAGCCCGAGCCTTC	0.697																																						uc002hed.1		NaN																	0					0						c.(715-717)GGC>GCC		abhydrolase domain containing 15 precursor							12.0	16.0	15.0					17																	27893269		2190	4283	6473	SO:0001583	missense	116236					extracellular region	carboxylesterase activity	g.chr17:27893269C>G	AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792		"""Abhydrolase domain containing"""	26971	protein-coding gene	gene with protein product						12975309	Standard	NM_198147		Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.716G>C	17.37:g.27893269C>G	ENSP00000302657:p.Gly239Ala					TP53I13_uc002hee.2_5'Flank	p.G239A	NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN			1	780	-			239					Q96EC5	Missense_Mutation	SNP	ENST00000307201.4	37	c.716G>C	CCDS32602.1	.	.	.	.	.	.	.	.	.	.	C	32	5.125776	0.94429	.	.	ENSG00000168792	ENST00000307201	D	0.97430	-4.38	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.98071	0.9364	M	0.69823	2.125	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	D	0.99016	1.0816	10	0.87932	D	0	-11.2906	16.4884	0.84191	0.0:1.0:0.0:0.0	.	239	Q6UXT9	ABH15_HUMAN	A	239	ENSP00000302657:G239A	ENSP00000302657:G239A	G	-	2	0	ABHD15	24917395	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	4.246000	0.58740	2.444000	0.82710	0.655000	0.94253	GGC		0.697	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447796.2		NM_198147		11	46	0	0	0	0.069234	0	11	46		
PIGW	284098	broad.mit.edu	37	17	34894046	34894046	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:34894046C>T	ENST00000592983.1	+	2	1676	c.1096C>T	c.(1096-1098)Cga>Tga	p.R366*	MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_Nonsense_Mutation_p.R366*			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	366					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGCAGTATCTCGAAGAATGGC	0.343																																						uc002hmy.1		NaN																	0					0						c.(1096-1098)CGA>TGA		phosphatidylinositol glycan, class W							72.0	70.0	71.0					17																	34894046		2203	4300	6503	SO:0001587	stop_gained	284098				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity	g.chr17:34894046C>T	AB097818	CCDS11313.1	17q21.1	2014-05-06	2006-06-28		ENSG00000184886	ENSG00000277161		"""Phosphatidylinositol glycan anchor biosynthesis"""	23213	protein-coding gene	gene with protein product		610275	"""phosphatidylinositol glycan, class W"""			14517336, 12714589	Standard	XM_005257238		Approved	Gwt1, FLJ37433	uc002hmz.1	Q7Z7B1	OTTHUMG00000188438	ENST00000592983.1:c.1096C>T	17.37:g.34894046C>T	ENSP00000468778:p.Arg366*					MYO19_uc010wcy.1_5'Flank|MYO19_uc002hmx.2_5'Flank|PIGW_uc002hmz.1_Nonsense_Mutation_p.R366*	p.R366*	NM_178517	NP_848612	Q7Z7B1	PIGW_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	1139	+		Breast(25;0.00957)|Ovarian(249;0.17)	366					Q8N9G3	Nonsense_Mutation	SNP	ENST00000592983.1	37	c.1096C>T	CCDS11313.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017153	0.93404	.	.	ENSG00000184886	ENST00000328396	.	.	.	5.79	2.5	0.30297	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.2047	14.1629	0.65457	0.417:0.583:0.0:0.0	.	.	.	.	X	366	.	.	R	+	1	2	PIGW	31968159	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.569000	0.53827	0.719000	0.32188	0.561000	0.74099	CGA		0.343	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451318.1		NM_178517		4	65	0	0	0	0.009096	0	4	65		
ERBB2	2064	broad.mit.edu	37	17	37866359	37866359	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:37866359G>T	ENST00000269571.5	+	6	823	c.664G>T	c.(664-666)Ggt>Tgt	p.G222C	ERBB2_ENST00000584450.1_Missense_Mutation_p.G222C|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000540042.1_Missense_Mutation_p.G192C|ERBB2_ENST00000584601.1_Missense_Mutation_p.G192C|ERBB2_ENST00000578199.1_Missense_Mutation_p.G192C|ERBB2_ENST00000406381.2_Missense_Mutation_p.G192C|ERBB2_ENST00000541774.1_Missense_Mutation_p.G207C|ERBB2_ENST00000540147.1_Missense_Mutation_p.G192C			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	222					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	TGTCTGTGCCGGTGGCTGTGC	0.647		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												uc002hso.2		1		Dom	yes		17	17q21.1	2064	A|Mis|O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			breast|ovarian|other tumour types|NSCLC|gastric		0				lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143						c.(664-666)GGT>TGT		erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						58.0	60.0	59.0					17																	37866359		2203	4298	6501	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37866359G>T	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.664G>T	17.37:g.37866359G>T	ENSP00000269571:p.Gly222Cys	TCGA GBM(5;<1E-08)				ERBB2_uc002hsm.2_Missense_Mutation_p.G192C|ERBB2_uc010cwa.2_Missense_Mutation_p.G207C|ERBB2_uc002hsp.2_Missense_Mutation_p.G25C|ERBB2_uc010cwb.2_Missense_Mutation_p.G222C|ERBB2_uc010wek.1_Intron|ERBB2_uc002hsl.2_Missense_Mutation_p.G192C|ERBB2_uc002hsn.1_Missense_Mutation_p.G222C	p.G222C	NM_004448	NP_004439	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	6	902	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	222			Extracellular (Potential).		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.664G>T	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.592992	0.28357	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16	5.62	-3.31	0.04988	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.58779	0.2146	N	0.24115	0.695	0.20489	N	0.999896	P;P;P;D	0.55385	0.953;0.953;0.949;0.971	P;P;P;D	0.63877	0.621;0.596;0.765;0.919	T	0.60576	-0.7236	9	0.66056	D	0.02	.	14.1239	0.65208	0.8654:0.0:0.1346:0.0	.	192;207;222;222	F5H1T4;P04626-4;P04626;Q9UK79	.;.;ERBB2_HUMAN;.	C	192;207;222;192;192	ENSP00000385185:G192C;ENSP00000446466:G207C;ENSP00000269571:G222C;ENSP00000443562:G192C;ENSP00000446382:G192C	ENSP00000269571:G222C	G	+	1	0	ERBB2	35119885	0.000000	0.05858	0.104000	0.21259	0.820000	0.46376	0.000000	0.12993	-1.041000	0.03266	0.467000	0.42956	GGT		0.647	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2				101	47	1	0	2.96211e-45	0.048971	3.40504e-45	101	47		
KRT38	8687	broad.mit.edu	37	17	39597029	39597029	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:39597029C>T	ENST00000246646.3	-	1	144	c.145G>A	c.(145-147)Gtg>Atg	p.V49M		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	49	Head.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GCATGTGCCACGTTGGCCAAA	0.632																																						uc002hwq.1		NaN																	0				skin(2)	2						c.(145-147)GTG>ATG		keratin 38							48.0	51.0	50.0					17																	39597029		2203	4300	6503	SO:0001583	missense	8687					intermediate filament	structural molecule activity	g.chr17:39597029C>T	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.145G>A	17.37:g.39597029C>T	ENSP00000246646:p.Val49Met						p.V49M	NM_006771	NP_006762	O76015	KRT38_HUMAN			1	568	-		Breast(137;0.000496)	49			Head.		A2RRM5|Q6A164	Missense_Mutation	SNP	ENST00000246646.3	37	c.145G>A	CCDS11392.1	.	.	.	.	.	.	.	.	.	.	C	9.387	1.074587	0.20227	.	.	ENSG00000171360	ENST00000246646	D	0.83075	-1.68	4.6	-4.99	0.03010	.	1.466260	0.04643	N	0.405726	T	0.63200	0.2491	N	0.14661	0.345	0.09310	N	1	B	0.26602	0.154	B	0.14023	0.01	T	0.48980	-0.8986	10	0.30078	T	0.28	.	3.7037	0.08392	0.0854:0.2606:0.3944:0.2596	.	49	O76015	KRT38_HUMAN	M	49	ENSP00000246646:V49M	ENSP00000246646:V49M	V	-	1	0	KRT38	36850555	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	-0.915000	0.04033	-1.170000	0.02769	-0.172000	0.13284	GTG		0.632	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2		NM_006771		10	120	0	0	0	0.069234	0	10	120		
NKIRAS2	28511	broad.mit.edu	37	17	40175690	40175690	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:40175690G>A	ENST00000307641.5	+	4	976	c.355G>A	c.(355-357)Ggc>Agc	p.G119S	NKIRAS2_ENST00000316082.4_Missense_Mutation_p.G157S|NKIRAS2_ENST00000393880.1_Missense_Mutation_p.G119S|NKIRAS2_ENST00000479407.1_Silent_p.L86L|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.G117S|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.G119S|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.G63S|ZNF385C_ENST00000461831.1_5'Flank|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.G119S|NKIRAS2_ENST00000462043.2_Nonsense_Mutation_p.W38*	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	119	Small GTPase-like.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				CGTGGTCCTTGGCAACAAGTG	0.572																																						uc002hyq.2		NaN																	0				ovary(1)	1						c.(355-357)GGC>AGC		NFKB inhibitor interacting Ras-like 2 isoform a							104.0	86.0	92.0					17																	40175690		2203	4300	6503	SO:0001583	missense	28511				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	g.chr17:40175690G>A	AF229840	CCDS11415.1, CCDS45679.1, CCDS45680.1	17q21.31	2014-05-09	2004-05-20		ENSG00000168256	ENSG00000168256			17898	protein-coding gene	gene with protein product		604497	"""NFKB inhibitor interacting Ras-like protein 2"""			10657303	Standard	NM_001001349		Approved	KBRAS2, DKFZP434N1526, kappaB-Ras2	uc002hys.3	Q9NYR9	OTTHUMG00000133503	ENST00000307641.5:c.355G>A	17.37:g.40175690G>A	ENSP00000303580:p.Gly119Ser					NKIRAS2_uc010wgd.1_Silent_p.L86L|NKIRAS2_uc002hyr.2_Missense_Mutation_p.G119S|NKIRAS2_uc002hys.2_Missense_Mutation_p.G119S|NKIRAS2_uc010wge.1_Missense_Mutation_p.G63S|NKIRAS2_uc002hyt.2_Missense_Mutation_p.G119S	p.G119S	NM_001001349	NP_001001349	Q9NYR9	KBRS2_HUMAN			4	420	+		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)	119			Small GTPase-like.		A6NCZ5|B3KNN0|B4DNM3|Q6PK52|Q96KC7|Q9NSX1	Missense_Mutation	SNP	ENST00000307641.5	37	c.355G>A	CCDS11415.1	.	.	.	.	.	.	.	.	.	.	G	34	5.323804	0.95708	.	.	ENSG00000168256	ENST00000307641;ENST00000393884;ENST00000393880;ENST00000393881;ENST00000393885;ENST00000462043;ENST00000316082	D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	5.65	4.68	0.58851	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.92479	0.7612	.	.	.	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.994	D	0.93522	0.6862	9	0.87932	D	0	-19.3822	14.7798	0.69756	0.0694:0.0:0.9306:0.0	.	63;119	B4DNM3;Q9NYR9	.;KBRS2_HUMAN	S	119;117;119;119;119;63;157	ENSP00000303580:G119S;ENSP00000377462:G117S;ENSP00000377458:G119S;ENSP00000377459:G119S;ENSP00000377463:G119S;ENSP00000312773:G157S	ENSP00000303580:G119S	G	+	1	0	NKIRAS2	37429216	1.000000	0.71417	0.926000	0.36857	0.986000	0.74619	9.841000	0.99482	1.387000	0.46486	0.467000	0.42956	GGC		0.572	NKIRAS2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257457.1		NM_017595		18	81	0	0	0	0.069288	0	18	81		
ITGA2B	3674	broad.mit.edu	37	17	42457993	42457993	+	Missense_Mutation	SNP	C	C	T	rs375195998		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:42457993C>T	ENST00000262407.5	-	14	1445	c.1414G>A	c.(1414-1416)Ggg>Agg	p.G472R	ITGA2B_ENST00000353281.4_Missense_Mutation_p.G472R|ITGA2B_ENST00000377068.3_3'UTR	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	472					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.G472R(1)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	TGGTTGGCCCCGTAAGCTCCC	0.597																																						uc002igt.1		NaN																	1	Substitution - Missense(1)	p.G472R(1)	ovary(1)	ovary(2)|lung(1)	3						c.(1414-1416)GGG>AGG		integrin alpha 2b preproprotein	Tirofiban(DB00775)	C	ARG/GLY	0,4406		0,0,2203	117.0	108.0	111.0		1414	5.0	0.3	17		111	2,8598	2.2+/-6.3	0,2,4298	no	missense	ITGA2B	NM_000419.3	125	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	472/1040	42457993	2,13004	2203	4300	6503	SO:0001583	missense	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42457993C>T		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1414G>A	17.37:g.42457993C>T	ENSP00000262407:p.Gly472Arg					ITGA2B_uc002igu.1_5'UTR	p.G472R	NM_000419	NP_000410	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	14	1446	-		Prostate(33;0.0181)	472			Extracellular (Potential).|FG-GAP 7.		B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	c.1414G>A	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989917	0.54041	0.0	2.33E-4	ENSG00000005961	ENST00000262407;ENST00000353281	T;T	0.74315	-0.83;-0.83	5.02	5.02	0.67125	.	0.270310	0.20133	N	0.098542	D	0.85831	0.5788	M	0.90870	3.155	0.80722	D	1	D	0.76494	0.999	P	0.57846	0.828	D	0.88186	0.2874	10	0.87932	D	0	.	11.3725	0.49708	0.0:0.9133:0.0:0.0867	.	472	P08514	ITA2B_HUMAN	R	472	ENSP00000262407:G472R;ENSP00000340536:G472R	ENSP00000262407:G472R	G	-	1	0	ITGA2B	39813519	0.992000	0.36948	0.258000	0.24420	0.099000	0.18886	4.720000	0.61944	2.613000	0.88420	0.655000	0.94253	GGG		0.597	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1				40	59	0	0	0	0.039052	0	40	59		
SPATA20	64847	broad.mit.edu	37	17	48628894	48628894	+	Silent	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:48628894T>C	ENST00000356488.4	+	12	1634	c.1551T>C	c.(1549-1551)gcT>gcC	p.A517A	SPATA20_ENST00000393244.3_Silent_p.A473A|SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000006658.6_Silent_p.A533A	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	517					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CAGGCTATGCTGTGACTGGGG	0.582																																						uc002irf.2		NaN																	0					0						c.(1549-1551)GCT>GCC		spermatogenesis associated 20							102.0	83.0	90.0					17																	48628894		2203	4300	6503	SO:0001819	synonymous_variant	64847				cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	g.chr17:48628894T>C		CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"""hypothetical protein FLJ21347"""	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.1551T>C	17.37:g.48628894T>C						SPATA20_uc002irc.2_Silent_p.A184A|SPATA20_uc002ire.2_Silent_p.A473A|SPATA20_uc002ird.2_Silent_p.A533A|SPATA20_uc002irg.2_RNA	p.A517A	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	BRCA - Breast invasive adenocarcinoma(22;9.38e-09)		12	1692	+	Breast(11;1.23e-18)		517					Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Silent	SNP	ENST00000356488.4	37	c.1551T>C	CCDS58563.1																																																																																				0.582	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1		NM_022827		12	82	0	0	0	0.09319	0	12	82		
SMG8	55181	broad.mit.edu	37	17	57289841	57289841	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:57289841C>G	ENST00000543872.2	+	3	2163	c.1899C>G	c.(1897-1899)ttC>ttG	p.F633L	CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.F633L|SMG8_ENST00000580498.1_3'UTR			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	633					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						ATTATGACTTCTATCAGGTAG	0.368																																						uc002ixi.2		NaN																	0					0						c.(1897-1899)TTC>TTG		SMG8 protein							80.0	86.0	84.0					17																	57289841		2203	4300	6503	SO:0001583	missense	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57289841C>G	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1899C>G	17.37:g.57289841C>G	ENSP00000438748:p.Phe633Leu						p.F633L	NM_018149	NP_060619	Q8ND04	SMG8_HUMAN			2	1941	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		633					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	c.1899C>G	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825388	0.50739	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.62941	-0.01;-0.01	5.77	-0.217	0.13149	.	0.000000	0.85682	D	0.000000	T	0.73434	0.3586	M	0.72353	2.195	0.58432	D	0.999997	D	0.57257	0.979	D	0.71414	0.973	T	0.72297	-0.4335	10	0.72032	D	0.01	-16.6292	11.2851	0.49218	0.0:0.4016:0.0:0.5984	.	633	Q8ND04	SMG8_HUMAN	L	633	ENSP00000300917:F633L;ENSP00000438748:F633L	ENSP00000300917:F633L	F	+	3	2	SMG8	54644623	0.959000	0.32827	0.992000	0.48379	0.977000	0.68977	0.089000	0.15002	-0.334000	0.08463	-1.004000	0.02495	TTC		0.368	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2		NM_018149		4	108	0	0	0	0.014758	0	4	108		
EVPL	2125	broad.mit.edu	37	17	74011020	74011020	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:74011020G>A	ENST00000301607.3	-	17	2452	c.2199C>T	c.(2197-2199)gcC>gcT	p.A733A	EVPL_ENST00000586740.1_Silent_p.A755A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	733	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGTCCCCTACGGCGTGGTAGC	0.652																																						uc002jqi.2		NaN																	0				pancreas(2)|central_nervous_system(1)|skin(1)	4						c.(2197-2199)GCC>GCT		envoplakin							32.0	33.0	33.0					17																	74011020		2203	4299	6502	SO:0001819	synonymous_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74011020G>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.2199C>T	17.37:g.74011020G>A						EVPL_uc010wss.1_Silent_p.A755A|EVPL_uc010wst.1_Silent_p.A203A	p.A733A	NM_001988	NP_001979	Q92817	EVPL_HUMAN			17	2427	-			733			Globular 1.		A0AUV5	Silent	SNP	ENST00000301607.3	37	c.2199C>T	CCDS11737.1																																																																																				0.652	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1		NM_001988		4	67	0	0	0	0.009096	0	4	67		
CARD14	79092	broad.mit.edu	37	17	78180861	78180861	+	Silent	SNP	C	C	T	rs140536892		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:78180861C>T	ENST00000573882.1	+	22	3320	c.2784C>T	c.(2782-2784)aaC>aaT	p.N928N	RP11-334C17.5_ENST00000573346.1_RNA|CARD14_ENST00000344227.2_Silent_p.N928N|RP11-334C17.5_ENST00000573935.1_RNA|RP11-334C17.5_ENST00000572730.1_RNA|RP11-334C17.5_ENST00000576824.1_RNA|RP11-334C17.5_ENST00000570309.1_RNA			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	928	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCTCTGTCAACGAGAAGATGG	0.612																																						uc002jxw.1		NaN																	0				ovary(4)|skin(1)	5						c.(2782-2784)AAC>AAT		caspase recruitment domain protein 14 isoform 1		C		2,4404	4.2+/-10.8	0,2,2201	116.0	89.0	98.0		2784	-4.6	0.6	17	dbSNP_134	98	0,8598		0,0,4299	no	coding-synonymous	CARD14	NM_024110.3		0,2,6500	TT,TC,CC		0.0,0.0454,0.0154		928/1005	78180861	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78180861C>T	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.2784C>T	17.37:g.78180861C>T						CARD14_uc002jxt.1_RNA	p.N928N	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		20	2979	+	all_neural(118;0.0952)		928			Guanylate kinase-like.		B8QQJ3|Q9BVB5	Silent	SNP	ENST00000573882.1	37	c.2784C>T	CCDS11768.1																																																																																				0.612	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1				42	27	0	0	0	0.11126	0	42	27		
NPB	256933	broad.mit.edu	37	17	79860514	79860514	+	Missense_Mutation	SNP	G	G	A	rs201542175	byFrequency	TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:79860514G>A	ENST00000333383.7	+	2	437	c.268G>A	c.(268-270)Gtc>Atc	p.V90I	NPB_ENST00000573081.1_Missense_Mutation_p.V121I|PCYT2_ENST00000538936.2_3'UTR	NM_148896.3	NP_683694.1	Q8NG41	NPB_HUMAN	neuropeptide B	90					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)						all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CGTCCAGGACGTCGCCCCAAA	0.726													G|||	3	0.000599042	0.0023	0.0	5008	,	,		10663	0.0		0.0	False		,,,				2504	0.0					uc002kcd.2		NaN																	0					0						c.(268-270)GTC>ATC		preproneuropeptide B precursor			ILE/VAL	5,4347		0,5,2171	11.0	15.0	14.0		268	0.4	0.0	17		14	2,8550		0,2,4274	yes	missense	NPB	NM_148896.3	29	0,7,6445	AA,AG,GG		0.0234,0.1149,0.0542	possibly-damaging	90/126	79860514	7,12897	2176	4276	6452	SO:0001583	missense	256933				neuropeptide signaling pathway	extracellular region		g.chr17:79860514G>A		CCDS11790.1	17q25.3	2013-02-26			ENSG00000183979	ENSG00000183979		"""Endogenous ligands"""	30099	protein-coding gene	gene with protein product	"""prepro-NPB"""	607996				12118011, 12401809	Standard	NM_148896		Approved	PPL7, PPNPB	uc002kcd.3	Q8NG41	OTTHUMG00000177983	ENST00000333383.7:c.268G>A	17.37:g.79860514G>A	ENSP00000332766:p.Val90Ile						p.V90I	NM_148896	NP_683694	Q8NG41	NPB_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		2	350	+	all_neural(118;0.0878)|Ovarian(332;0.12)		90					A0AUX9|A6NJD6|B9EJC3	Missense_Mutation	SNP	ENST00000333383.7	37	c.268G>A	CCDS11790.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	4.257	0.046773	0.08243	0.001149	2.34E-4	ENSG00000183979	ENST00000333383	.	.	.	3.72	0.403	0.16350	.	0.186484	0.35525	U	0.003144	T	0.24509	0.0594	L	0.38175	1.15	0.23966	N	0.996326	B	0.30021	0.265	B	0.20577	0.03	T	0.18493	-1.0335	9	0.15952	T	0.53	.	8.6835	0.34223	0.2659:0.0:0.7341:0.0	.	90	Q8NG41	NPB_HUMAN	I	90	.	ENSP00000332766:V90I	V	+	1	0	NPB	77453806	0.016000	0.18221	0.001000	0.08648	0.020000	0.10135	0.608000	0.24223	0.103000	0.17682	0.550000	0.68814	GTC		0.726	NPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440109.2		NM_148896		6	33	0	0	0	0.021553	0	6	33		
HEXDC	284004	broad.mit.edu	37	17	80400084	80400084	+	Missense_Mutation	SNP	G	G	A	rs373845503		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:80400084G>A	ENST00000327949.9	+	12	1296	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	HEXDC_ENST00000337014.6_Silent_p.R458R|HEXDC_ENST00000577944.1_Missense_Mutation_p.G431E			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	429					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CCTCGTGCAGGAGCTGGAGGC	0.642																																						uc002kew.2		NaN																	0				ovary(1)|skin(1)	2						c.(1285-1287)GAG>AAG		SubName: Full=Hexosaminidase (Glycosyl hydrolase family 20, catalytic domain) containing, isoform CRA_c; SubName: Full=Hexosaminidase D;		G		0,4226		0,0,2113	24.0	27.0	26.0		1374	3.4	1.0	17		26	1,8465		0,1,4232	no	coding-synonymous	HEXDC	NM_173620.2		0,1,6345	AA,AG,GG		0.0118,0.0,0.0079		458/586	80400084	1,12691	2113	4233	6346	SO:0001583	missense	284004				carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding	g.chr17:80400084G>A	AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.1285G>A	17.37:g.80400084G>A	ENSP00000332634:p.Glu429Lys					HEXDC_uc002kev.3_Silent_p.R458R|HEXDC_uc010diq.2_Missense_Mutation_p.G431E|HEXDC_uc010wvm.1_RNA	p.E429K			Q8WVB3	HEXDC_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		12	1336	+	Breast(20;0.00106)|all_neural(118;0.0804)		429					B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	ENST00000327949.9	37	c.1285G>A		.	.	.	.	.	.	.	.	.	.	G	8.918	0.960371	0.18507	0.0	1.18E-4	ENSG00000169660	ENST00000327949	T	0.32023	1.47	5.4	3.39	0.38822	.	.	.	.	.	T	0.17789	0.0427	.	.	.	0.35656	D	0.812147	P	0.40578	0.722	B	0.33750	0.169	T	0.10730	-1.0617	8	0.12103	T	0.63	-0.9144	14.6661	0.68910	0.0:0.3346:0.6654:0.0	.	429	Q8WVB3	HEXDC_HUMAN	K	429	ENSP00000332634:E429K	ENSP00000332634:E429K	E	+	1	0	HEXDC	77993373	0.998000	0.40836	0.958000	0.39756	0.006000	0.05464	2.800000	0.47900	0.636000	0.30508	-0.304000	0.09214	GAG		0.642	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1		NM_173620		13	57	0	0	0	0.020292	0	13	57		
AP3D1	8943	broad.mit.edu	37	19	2111719	2111719	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:2111719C>T	ENST00000345016.5	-	23	2941	c.2710G>A	c.(2710-2712)Gag>Aag	p.E904K	AP3D1_ENST00000350812.6_Missense_Mutation_p.E735K|AP3D1_ENST00000355272.6_Missense_Mutation_p.E966K|AP3D1_ENST00000356926.4_Missense_Mutation_p.E863K	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	904					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCACCGGCTCCCCCGCTGCC	0.662																																						uc002luz.2		NaN																	0					0						c.(2710-2712)GAG>AAG		adaptor-related protein complex 3, delta 1							51.0	50.0	51.0					19																	2111719		2181	4281	6462	SO:0001583	missense	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2111719C>T	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.2710G>A	19.37:g.2111719C>T	ENSP00000344055:p.Glu904Lys					AP3D1_uc010dsv.2_5'Flank|AP3D1_uc002luy.2_Missense_Mutation_p.E863K|AP3D1_uc002lva.2_Missense_Mutation_p.E966K	p.E904K	NM_003938	NP_003929	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	23	2933	-		Hepatocellular(1079;0.137)	904					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	c.2710G>A	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.585035	0.46110	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	4.86	3.83	0.44106	.	0.252799	0.39020	N	0.001491	T	0.29588	0.0738	L	0.44542	1.39	0.39801	D	0.972578	B;B;B	0.16802	0.019;0.0;0.0	B;B;B	0.15484	0.013;0.002;0.001	T	0.09773	-1.0659	10	0.06365	T	0.9	-23.0932	10.5316	0.44979	0.0:0.9088:0.0:0.0912	.	966;904;863	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	K	863;904;966;772;735	ENSP00000349398:E863K;ENSP00000344055:E904K;ENSP00000347416:E966K;ENSP00000342321:E735K	ENSP00000341579:E772K	E	-	1	0	AP3D1	2062719	0.166000	0.22962	0.007000	0.13788	0.100000	0.18952	3.509000	0.53386	1.288000	0.44600	-0.126000	0.14955	GAG		0.662	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1				4	8	0	0	0	0.009096	0	4	8		
XAB2	56949	broad.mit.edu	37	19	7684884	7684884	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:7684884C>T	ENST00000358368.4	-	17	2381	c.2344G>A	c.(2344-2346)Gag>Aag	p.E782K	XAB2_ENST00000534844.1_Missense_Mutation_p.E779K	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	782					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.E779K(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CGCTCCGCCTCAGCCGCCAGC	0.667								Direct reversal of damage;Nucleotide excision repair (NER)																														uc002mgx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(2)|breast(1)|skin(1)	4						c.(2344-2346)GAG>AAG	Direct_reversal_of_damage|NER	XPA binding protein 2							30.0	30.0	30.0					19																	7684884		2203	4295	6498	SO:0001583	missense	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7684884C>T	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.2344G>A	19.37:g.7684884C>T	ENSP00000351137:p.Glu782Lys						p.E782K	NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN			17	2370	-			782					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	c.2344G>A	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	C	7.694	0.691646	0.15039	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.22945	1.93;1.93	4.67	3.6	0.41247	.	0.064548	0.64402	D	0.000012	T	0.27866	0.0686	M	0.74881	2.28	0.80722	D	1	P	0.50617	0.937	B	0.42851	0.4	T	0.25779	-1.0122	10	0.07482	T	0.82	-23.7322	13.5218	0.61572	0.0:0.8417:0.1583:0.0	.	782	Q9HCS7	SYF1_HUMAN	K	782;779	ENSP00000351137:E782K;ENSP00000438225:E779K	ENSP00000351137:E782K	E	-	1	0	XAB2	7590884	1.000000	0.71417	0.211000	0.23655	0.005000	0.04900	7.036000	0.76524	0.925000	0.37094	0.305000	0.20034	GAG		0.667	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1		NM_020196		16	63	0	0	0	0.038395	0	16	63		
CLEC4M	10332	broad.mit.edu	37	19	7831632	7831632	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:7831632C>G	ENST00000327325.5	+	5	993	c.875C>G	c.(874-876)tCc>tGc	p.S292C	CLEC4M_ENST00000597522.1_Missense_Mutation_p.S200C|CLEC4M_ENST00000248228.4_Missense_Mutation_p.S270C|CLEC4M_ENST00000595496.1_Missense_Mutation_p.S156C|CLEC4M_ENST00000357361.2_Missense_Mutation_p.S292C|CLEC4M_ENST00000596707.1_Missense_Mutation_p.S225C|CLEC4M_ENST00000394122.2_Missense_Mutation_p.S280C|CLEC4M_ENST00000596363.1_Missense_Mutation_p.S264C|CLEC4M_ENST00000359059.5_Missense_Mutation_p.S225C|CLEC4M_ENST00000334806.5_Missense_Mutation_p.S241C	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	292	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						TGGCACGACTCCGTCACCGCC	0.597																																						uc002mih.2		NaN																	0				pancreas(1)	1						c.(805-807)TCC>TGC		C-type lectin domain family 4, member M isoform							97.0	89.0	92.0					19																	7831632		2203	4300	6503	SO:0001583	missense	10332				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	g.chr19:7831632C>G	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.875C>G	19.37:g.7831632C>G	ENSP00000316228:p.Ser292Cys					CLEC4M_uc010xjv.1_3'UTR|CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc010xjw.1_Missense_Mutation_p.S225C|CLEC4M_uc010dvt.2_Missense_Mutation_p.S246C|CLEC4M_uc010dvs.2_Missense_Mutation_p.S268C|CLEC4M_uc010xjx.1_Missense_Mutation_p.S241C|CLEC4M_uc002mhz.2_Missense_Mutation_p.S200C|CLEC4M_uc002mic.2_Missense_Mutation_p.S264C|CLEC4M_uc002mia.2_Missense_Mutation_p.S156C	p.S269C	NM_001144910	NP_001138382	Q9H2X3	CLC4M_HUMAN			6	924	+			292			Extracellular (Probable).|C-type lectin.		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	ENST00000327325.5	37	c.806C>G	CCDS12187.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080735	0.36758	.	.	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059;ENST00000357361;ENST00000358690	T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13	2.57	2.57	0.30868	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.52901	0.1763	M	0.93462	3.42	0.09310	N	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998;1.0;1.0;1.0	D;D;D;D;P;D;D;D	0.91635	0.997;0.995;0.999;0.998;0.857;0.995;0.998;0.993	T	0.38908	-0.9639	9	0.87932	D	0	.	8.8251	0.35050	0.0:1.0:0.0:0.0	.	241;225;292;280;269;264;156;200	B4E2Z5;Q9H2X3-5;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-9;Q9H2X3-7;Q9H2X3-4	.;.;CLC4M_HUMAN;.;.;.;.;.	C	292;280;270;241;225;292;236	ENSP00000316228:S292C;ENSP00000377680:S280C;ENSP00000248228:S270C;ENSP00000335228:S241C;ENSP00000351954:S225C;ENSP00000349924:S292C	ENSP00000248228:S270C	S	+	2	0	CLEC4M	7737632	0.004000	0.15560	0.002000	0.10522	0.003000	0.03518	2.466000	0.45084	1.754000	0.51921	0.556000	0.70494	TCC		0.597	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1		NM_014257		22	102	0	0	0	0.055883	0	22	102		
DOCK6	57572	broad.mit.edu	37	19	11312572	11312572	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:11312572C>T	ENST00000294618.7	-	44	5692	c.5681G>A	c.(5680-5682)cGg>cAg	p.R1894Q	DOCK6_ENST00000319867.7_Missense_Mutation_p.R1233Q|DOCK6_ENST00000586702.1_5'UTR|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1894	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CACCTCCTCCCGGTGGCACAC	0.677																																						uc002mqs.3		NaN																	0				ovary(2)|skin(1)	3						c.(5680-5682)CGG>CAG		dedicator of cytokinesis 6							32.0	31.0	32.0					19																	11312572		1972	4124	6096	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11312572C>T		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.5681G>A	19.37:g.11312572C>T	ENSP00000294618:p.Arg1894Gln					DOCK6_uc002mqr.3_Missense_Mutation_p.R294Q|DOCK6_uc010xlq.1_Missense_Mutation_p.R1233Q	p.R1894Q	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN			44	5722	-			1894			DHR-2.		A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.5681G>A	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809882	0.90707	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.17370	2.28;2.28	5.19	4.09	0.47781	.	0.271405	0.34986	N	0.003523	T	0.19604	0.0471	L	0.29908	0.895	0.43642	D	0.996046	D;B;D	0.63046	0.983;0.428;0.992	P;B;P	0.57371	0.533;0.109;0.819	T	0.00847	-1.1542	10	0.32370	T	0.25	-26.6456	7.2244	0.26007	0.0:0.8025:0.0:0.1975	.	1233;1894;1233	C9IZV6;Q96HP0;B4DIL4	.;DOCK6_HUMAN;.	Q	1894;1233	ENSP00000294618:R1894Q;ENSP00000321556:R1233Q	ENSP00000294618:R1894Q	R	-	2	0	DOCK6	11173572	1.000000	0.71417	0.999000	0.59377	0.860000	0.49131	4.093000	0.57714	2.414000	0.81942	0.561000	0.74099	CGG		0.677	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1		NM_020812		4	12	0	0	0	0.009096	0	4	12		
MYO9B	4650	broad.mit.edu	37	19	17295781	17295781	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:17295781C>T	ENST00000594824.1	+	17	2628	c.2481C>T	c.(2479-2481)atC>atT	p.I827I	MYO9B_ENST00000397274.2_Silent_p.I827I|MYO9B_ENST00000595618.1_Silent_p.I827I			Q13459	MYO9B_HUMAN	myosin IXB	827	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CACCAAGCATCAGCGCCCAGT	0.582																																						uc010eak.2		NaN																	0				breast(1)	1						c.(2479-2481)ATC>ATT		myosin IXB isoform 1							137.0	150.0	146.0					19																	17295781		2140	4248	6388	SO:0001819	synonymous_variant	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17295781C>T		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.2481C>T	19.37:g.17295781C>T						MYO9B_uc002nfi.2_Silent_p.I827I|MYO9B_uc002nfj.1_Silent_p.I827I	p.I827I	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			17	2633	+			827			Myosin head-like.		O75314|Q9NUJ2|Q9UHN0	Silent	SNP	ENST00000594824.1	37	c.2481C>T																																																																																					0.582	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1				8	229	0	0	0	0.080935	0	8	229		
KLHL26	55295	broad.mit.edu	37	19	18779242	18779242	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:18779242G>A	ENST00000300976.4	+	3	1125	c.1035G>A	c.(1033-1035)acG>acA	p.T345T	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	345										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCGAGCTCACGGAGATGGAGG	0.682																																						uc002njz.1		NaN																	0				ovary(1)	1						c.(1033-1035)ACG>ACA		kelch-like 26							16.0	16.0	16.0					19																	18779242		2088	4085	6173	SO:0001819	synonymous_variant	55295							g.chr19:18779242G>A		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"""Kelch-like"", ""BTB/POZ domain containing"""	25623	protein-coding gene	gene with protein product			"""kelch-like 26 (Drosophila)"""				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.1035G>A	19.37:g.18779242G>A							p.T345T	NM_018316	NP_060786	Q53HC5	KLH26_HUMAN			3	1062	+			345			Kelch 1.		Q8TAP0|Q9NUX3	Silent	SNP	ENST00000300976.4	37	c.1035G>A	CCDS12384.1																																																																																				0.682	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1		NM_018316		19	17	0	0	0	0.062417	0	19	17		
ZNF492	57615	broad.mit.edu	37	19	22847804	22847805	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:22847804_22847805GG>TT	ENST00000456783.2	+	4	1577_1578	c.1333_1334GG>TT	c.(1333-1335)GGa>TTa	p.G445L	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	445					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AATTCATACTGGAGAGAAGCCC	0.376																																						uc002nqw.3		NaN																	0					0						c.(1333-1335)GGA>TTA		zinc finger protein 492																																				SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22847804_22847805GG>TT	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		Exception_encountered	19.37:g.22847804_22847805delinsTT	ENSP00000413660:p.Gly445Leu						p.G445L	NM_020855	NP_065906	Q9P255	ZN492_HUMAN			4	1577_1578	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	445					Q08EI7|Q08EI8	Missense_Mutation	DNP	ENST00000456783.2	37	c.1333_1334GG>TT	CCDS46032.1																																																																																				0.376	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1		NM_020855		26	47	0	0	0	0.004672	0	26	47		
ZNF792	126375	broad.mit.edu	37	19	35449114	35449114	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:35449114G>A	ENST00000404801.1	-	4	2031	c.1645C>T	c.(1645-1647)Ctg>Ttg	p.L549L	ZNF792_ENST00000605484.1_Silent_p.L482L	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	549					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGCTGCCTCAGATTGGACCTC	0.527																																					GBM(1;7 183 21053 22581 22847)	uc002nxh.1		NaN																	0					0						c.(1645-1647)CTG>TTG		zinc finger protein 792							96.0	77.0	83.0					19																	35449114		2203	4300	6503	SO:0001819	synonymous_variant	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35449114G>A	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.1645C>T	19.37:g.35449114G>A							p.L549L	NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		4	2032	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		549			C2H2-type 12.		B4E333|Q495L1|Q495L3|Q8N932	Silent	SNP	ENST00000404801.1	37	c.1645C>T	CCDS12440.2																																																																																				0.527	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1		NM_175872		13	37	0	0	0	0.105934	0	13	37		
CATSPERG	57828	broad.mit.edu	37	19	38845387	38845387	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:38845387G>C	ENST00000409235.3	+	9	1150	c.1035G>C	c.(1033-1035)aaG>aaC	p.K345N	CATSPERG_ENST00000215069.4_Missense_Mutation_p.K358N|CATSPERG_ENST00000410018.1_Missense_Mutation_p.K345N	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	345					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						AGTGCATCAAGAAGCTGTGCC	0.562																																						uc002oih.3		NaN																	0				ovary(1)|skin(1)	2						c.(1033-1035)AAG>AAC		cation channel, sperm-associated, gamma							177.0	161.0	166.0					19																	38845387		2203	4300	6503	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38845387G>C	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.1035G>C	19.37:g.38845387G>C	ENSP00000386962:p.Lys345Asn					CATSPERG_uc002oig.3_Missense_Mutation_p.K345N|CATSPERG_uc002oif.3_5'UTR|CATSPERG_uc010efw.2_RNA	p.K345N	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN			9	1122	+			345			Extracellular (Potential).		A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.1035G>C	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949067	0.53186	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410;ENST00000215069	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.83	4.78	0.61160	.	0.000000	0.64402	D	0.000006	T	0.58293	0.2112	M	0.74258	2.255	0.35732	D	0.817976	D;D	0.76494	0.999;0.999	D;D	0.72075	0.976;0.976	T	0.71101	-0.4690	10	0.87932	D	0	-32.999	12.1552	0.54072	0.0:0.0:0.8289:0.1711	.	345;345	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	N	345;345;345;358	ENSP00000387057:K345N;ENSP00000386962:K345N;ENSP00000386950:K345N;ENSP00000215069:K358N	ENSP00000215069:K358N	K	+	3	2	CATSPERG	43537227	1.000000	0.71417	0.991000	0.47740	0.318000	0.28184	1.601000	0.36773	1.427000	0.47276	0.561000	0.74099	AAG		0.562	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1		NM_021185		9	256	0	0	0	0.058154	0	9	256		
CATSPERG	57828	broad.mit.edu	37	19	38845424	38845424	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:38845424G>C	ENST00000409235.3	+	9	1187	c.1072G>C	c.(1072-1074)Gag>Cag	p.E358Q	CATSPERG_ENST00000215069.4_Missense_Mutation_p.E371Q|CATSPERG_ENST00000410018.1_Missense_Mutation_p.E358Q	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	358					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CAATGGCTCTGAGTACATAAT	0.557																																						uc002oih.3		NaN																	0				ovary(1)|skin(1)	2						c.(1072-1074)GAG>CAG		cation channel, sperm-associated, gamma							213.0	192.0	199.0					19																	38845424		2203	4300	6503	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38845424G>C	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.1072G>C	19.37:g.38845424G>C	ENSP00000386962:p.Glu358Gln					CATSPERG_uc002oig.3_Missense_Mutation_p.E358Q|CATSPERG_uc002oif.3_5'UTR|CATSPERG_uc010efw.2_RNA	p.E358Q	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN			9	1159	+			358			Extracellular (Potential).		A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.1072G>C	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974959	0.53720	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410;ENST00000215069	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.83	5.83	0.93111	.	0.096661	0.45606	D	0.000360	T	0.60996	0.2312	M	0.74258	2.255	0.36167	D	0.848523	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	T	0.69767	-0.5056	10	0.87932	D	0	-43.5176	15.6238	0.76833	0.0:0.0:1.0:0.0	.	358;358	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	Q	358;358;358;371	ENSP00000387057:E358Q;ENSP00000386962:E358Q;ENSP00000386950:E358Q;ENSP00000215069:E371Q	ENSP00000215069:E371Q	E	+	1	0	CATSPERG	43537264	1.000000	0.71417	0.690000	0.30148	0.056000	0.15407	5.546000	0.67243	2.759000	0.94783	0.561000	0.74099	GAG		0.557	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1		NM_021185		11	337	0	0	0	0.069234	0	11	337		
C19orf54	284325	broad.mit.edu	37	19	41248439	41248439	+	Missense_Mutation	SNP	G	G	A	rs184492176		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:41248439G>A	ENST00000378313.2	-	6	1074	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	C19orf54_ENST00000470681.1_3'UTR|C19orf54_ENST00000598485.2_Intron|C19orf54_ENST00000339153.3_Intron|C19orf54_ENST00000598729.1_Missense_Mutation_p.R147W|C19orf54_ENST00000594163.1_5'Flank	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	319										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCAGTGGCCCGTGAGGGCGAG	0.647																																						uc002oou.1		NaN																	0					0						c.(955-957)CGG>TGG		hypothetical protein LOC284325							36.0	32.0	34.0					19																	41248439		2202	4300	6502	SO:0001583	missense	284325							g.chr19:41248439G>A	AK123126	CCDS12564.2	19q13.2	2012-10-26			ENSG00000188493	ENSG00000188493			24758	protein-coding gene	gene with protein product							Standard	NM_198476		Approved	FLJ41131	uc002oou.1	Q5BKX5	OTTHUMG00000150174	ENST00000378313.2:c.955C>T	19.37:g.41248439G>A	ENSP00000367564:p.Arg319Trp					C19orf54_uc002oow.1_Missense_Mutation_p.R147W|C19orf54_uc002oox.1_RNA|C19orf54_uc002ooy.1_Intron|C19orf54_uc010xvs.1_Intron	p.R319W	NM_198476	NP_940878	Q5BKX5	CS054_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		6	1075	-			319					A8MSZ5|B4DNU7	Missense_Mutation	SNP	ENST00000378313.2	37	c.955C>T	CCDS12564.2	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303818	0.40795	.	.	ENSG00000188493	ENST00000378313	.	.	.	5.48	-3.59	0.04583	.	0.000000	0.85682	D	0.000000	T	0.81240	0.4781	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84778	0.0771	9	0.87932	D	0	-33.0076	19.5169	0.95169	0.0:0.0:0.1966:0.8034	.	147;319	Q5BKX5-3;Q5BKX5	.;CS054_HUMAN	W	319	.	ENSP00000367564:R319W	R	-	1	2	C19orf54	45940279	0.014000	0.17966	0.032000	0.17829	0.011000	0.07611	0.005000	0.13129	-0.317000	0.08677	-0.261000	0.10672	CGG		0.647	C19orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316701.1		NM_198476		12	13	0	0	0	0.080935	0	12	13		
MEGF8	1954	broad.mit.edu	37	19	42866549	42866549	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:42866549G>A	ENST00000251268.6	+	34	5858	c.5858G>A	c.(5857-5859)cGc>cAc	p.R1953H	MEGF8_ENST00000334370.4_Missense_Mutation_p.R1886H	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1953	PSI 5.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TCCACCCCCCGCTGTAAGTGG	0.607																																						uc002otl.3		NaN																	0				ovary(1)	1						c.(5656-5658)CGC>CAC		multiple EGF-like-domains 8							100.0	88.0	92.0					19																	42866549		2203	4300	6503	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42866549G>A	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.5858G>A	19.37:g.42866549G>A	ENSP00000251268:p.Arg1953His					MEGF8_uc002otm.3_Missense_Mutation_p.R1494H	p.R1886H	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			33	6292	+		Prostate(69;0.00682)	1953			Extracellular (Potential).|PSI 5.		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.5657G>A		.	.	.	.	.	.	.	.	.	.	G	18.39	3.614371	0.66672	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21191	2.02;2.02	5.2	5.2	0.72013	.	0.086108	0.50627	D	0.000104	T	0.27866	0.0686	N	0.22421	0.69	0.80722	D	1	D;D	0.71674	0.995;0.998	P;P	0.62740	0.661;0.906	T	0.01630	-1.1308	10	0.44086	T	0.13	-29.2381	11.7379	0.51775	0.086:0.0:0.914:0.0	.	1953;1886	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	H	1886;1953	ENSP00000334219:R1886H;ENSP00000251268:R1953H	ENSP00000251268:R1953H	R	+	2	0	MEGF8	47558389	1.000000	0.71417	0.999000	0.59377	0.765000	0.43378	3.159000	0.50731	2.442000	0.82660	0.462000	0.41574	CGC		0.607	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1		NM_001410		74	95	0	0	0	0.048971	0	74	95		
IRGC	56269	broad.mit.edu	37	19	44222828	44222828	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:44222828G>A	ENST00000244314.5	+	2	317	c.118G>A	c.(118-120)Gcc>Acc	p.A40T		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	40						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CCCCCAGGCCGCCTCTCACCT	0.667																																					Colon(189;350 2037 11447 13433 38914)	uc002oxh.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(118-120)GCC>ACC		immunity-related GTPase family, cinema							33.0	39.0	37.0					19																	44222828		2201	4299	6500	SO:0001583	missense	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44222828G>A	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.118G>A	19.37:g.44222828G>A	ENSP00000244314:p.Ala40Thr						p.A40T	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN			2	265	+		Prostate(69;0.0435)	40					Q05BR8	Missense_Mutation	SNP	ENST00000244314.5	37	c.118G>A	CCDS12629.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878433	0.72294	.	.	ENSG00000124449	ENST00000244314	T	0.21932	1.98	5.06	3.98	0.46160	.	0.224065	0.36482	N	0.002571	T	0.28433	0.0703	N	0.26042	0.785	0.31559	N	0.65774	D	0.71674	0.998	D	0.65010	0.931	T	0.06807	-1.0806	10	0.33940	T	0.23	.	12.7097	0.57082	0.0:0.0:0.8353:0.1647	.	40	Q6NXR0	IIGP5_HUMAN	T	40	ENSP00000244314:A40T	ENSP00000244314:A40T	A	+	1	0	IRGC	48914668	0.993000	0.37304	1.000000	0.80357	0.925000	0.55904	2.742000	0.47434	2.366000	0.80165	0.549000	0.68633	GCC		0.667	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1		NM_019612		6	116	0	0	0	0.02938	0	6	116		
ZNF112	7771	broad.mit.edu	37	19	44832186	44832186	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:44832186G>A	ENST00000337401.4	-	5	2230	c.2142C>T	c.(2140-2142)gtC>gtT	p.V714V	ZNF112_ENST00000536500.1_Silent_p.V731V|ZNF112_ENST00000354340.4_Silent_p.V708V	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	714					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CTCCAGAATGGACACTCTGAT	0.463																																						uc010ejj.2		NaN																	0				ovary(3)|skin(2)	5						c.(2140-2142)GTC>GTT		zinc finger protein 228 isoform 1							160.0	139.0	146.0					19																	44832186		2203	4300	6503	SO:0001819	synonymous_variant	7771				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44832186G>A	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.2142C>T	19.37:g.44832186G>A						ZFP112_uc002ozc.3_Silent_p.V708V|ZFP112_uc010xwy.1_Silent_p.V731V|ZFP112_uc010xwz.1_Silent_p.V713V	p.V714V	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN			5	2255	-			714			C2H2-type 11.		A4FU53|Q9HCA7	Silent	SNP	ENST00000337401.4	37	c.2142C>T	CCDS54276.1																																																																																				0.463	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1		NM_013380		32	104	0	0	0	0.045705	0	32	104		
GEMIN7	79760	broad.mit.edu	37	19	45593632	45593632	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:45593632G>A	ENST00000270257.4	+	3	507	c.260G>A	c.(259-261)cGt>cAt	p.R87H	GEMIN7_ENST00000591747.1_Missense_Mutation_p.R87H|GEMIN7_ENST00000591607.1_Missense_Mutation_p.R87H|PPP1R37_ENST00000421905.1_5'Flank|CTB-179K24.3_ENST00000586556.1_RNA|CTB-179K24.3_ENST00000586744.1_RNA|GEMIN7_ENST00000391951.2_Missense_Mutation_p.R87H|PPP1R37_ENST00000221462.4_5'Flank	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	87					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		GAGGGTGTGCGTGTGGCCGCC	0.642																																						uc002pap.1		NaN																	0				ovary(1)	1						c.(259-261)CGT>CAT		gemin 7							54.0	50.0	51.0					19																	45593632		2203	4300	6503	SO:0001583	missense	79760				ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding	g.chr19:45593632G>A	AK024018	CCDS12654.1	19q13.32	2008-02-05				ENSG00000142252			20045	protein-coding gene	gene with protein product		607419				12065586	Standard	NM_024707		Approved	FLJ13956	uc002pap.1	Q9H840		ENST00000270257.4:c.260G>A	19.37:g.45593632G>A	ENSP00000270257:p.Arg87His					uc002pas.2_5'Flank|GEMIN7_uc002paq.1_Missense_Mutation_p.R87H|GEMIN7_uc002par.1_Missense_Mutation_p.R87H	p.R87H	NM_001007270	NP_001007271	Q9H840	GEMI7_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0131)	3	411	+		Ovarian(192;0.0728)|all_neural(266;0.112)	87					Q6IA34	Missense_Mutation	SNP	ENST00000270257.4	37	c.260G>A	CCDS12654.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893501	0.33442	.	.	ENSG00000142252	ENST00000270257;ENST00000391951	.	.	.	5.06	0.683	0.17998	.	0.795152	0.11637	N	0.544183	T	0.35008	0.0917	L	0.34521	1.04	0.35488	D	0.798701	B	0.06786	0.001	B	0.06405	0.002	T	0.24905	-1.0147	9	0.23302	T	0.38	-9.6668	4.924	0.13883	0.4254:0.1779:0.3967:0.0	.	87	Q9H840	GEMI7_HUMAN	H	87	.	ENSP00000270257:R87H	R	+	2	0	GEMIN7	50285472	0.002000	0.14202	0.600000	0.28864	0.965000	0.64279	0.055000	0.14229	0.014000	0.14944	-0.378000	0.06908	CGT		0.642	GEMIN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457533.1				17	59	0	0	0	0.0333	0	17	59		
SAE1	10055	broad.mit.edu	37	19	47646784	47646784	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:47646784G>A	ENST00000270225.7	+	2	200	c.132G>A	c.(130-132)ttG>ttA	p.L44L	SAE1_ENST00000598840.1_Silent_p.L44L|SAE1_ENST00000392776.3_Silent_p.L44L|SAE1_ENST00000540850.1_5'UTR|SAE1_ENST00000413379.3_Silent_p.L44L	NM_005500.2	NP_005491.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	44					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitotic cell cycle (GO:0007346)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP-dependent protein binding (GO:0043008)|enzyme activator activity (GO:0008047)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|ubiquitin activating enzyme activity (GO:0004839)			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		TTGTCGGCTTGAAAGGACTTG	0.488																																						uc002pgc.2		NaN																	0				ovary(1)	1						c.(130-132)TTG>TTA		SubName: Full=SUMO-1 activating enzyme subunit 1, isoform CRA_b; SubName: Full=cDNA, FLJ96708, Homo sapiens SUMO-1 activating enzyme subunit 1 (SAE1), mRNA;							105.0	97.0	100.0					19																	47646784		2203	4300	6503	SO:0001819	synonymous_variant	10055				protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity	g.chr19:47646784G>A	BC018271	CCDS12696.1, CCDS54284.1, CCDS54285.1	19q13.32	2013-09-26				ENSG00000142230		"""Ubiquitin-like modifier activating enzymes"""	30660	protein-coding gene	gene with protein product	"""activator Of sumo 1"""	613294				10187858, 9920803, 10217437	Standard	NM_005500		Approved	AOS1, FLJ3091, Sua1	uc002pgc.3	Q9UBE0		ENST00000270225.7:c.132G>A	19.37:g.47646784G>A						SAE1_uc002pgd.2_Silent_p.L44L|SAE1_uc010ekx.2_Silent_p.L44L|SAE1_uc010ekw.2_RNA|SAE1_uc010xyk.1_5'UTR|SAE1_uc002pge.2_5'UTR	p.L44L	NM_016402	NP_057486	Q9UBE0	SAE1_HUMAN		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)	2	188	+		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)	44					B2RDP5|B3KMQ2|F5GXX7|G3XAK6|O95717|Q9P020	Silent	SNP	ENST00000270225.7	37	c.132G>A	CCDS12696.1																																																																																				0.488	SAE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466775.1		NM_005500		15	92	0	0	0	0.024245	0	15	92		
GRIN2D	2906	broad.mit.edu	37	19	48919345	48919345	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:48919345C>T	ENST00000263269.3	+	7	1756	c.1668C>T	c.(1666-1668)ttC>ttT	p.F556F		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	556					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCGTCCCCTTCGTGGAGACCG	0.667																																						uc002pjc.3		NaN																	0				ovary(3)|breast(3)	6						c.(1666-1668)TTC>TTT		N-methyl-D-aspartate receptor subunit 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						103.0	86.0	92.0					19																	48919345		2203	4300	6503	SO:0001819	synonymous_variant	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48919345C>T	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1668C>T	19.37:g.48919345C>T							p.F556F	NM_000836	NP_000827	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	7	1756	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	556			Extracellular (Potential).			Silent	SNP	ENST00000263269.3	37	c.1668C>T	CCDS12719.1																																																																																				0.667	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1				17	93	0	0	0	0.0333	0	17	93		
NR1H2	7376	broad.mit.edu	37	19	50881790	50881790	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:50881790G>A	ENST00000253727.5	+	6	719	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	NR1H2_ENST00000598168.1_Missense_Mutation_p.E162K|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000593926.1_Missense_Mutation_p.E162K|NR1H2_ENST00000411902.2_Missense_Mutation_p.E65K|NR1H2_ENST00000599105.1_Missense_Mutation_p.E162K	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	162					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CGTCCTTTCTGAAGAACAGAT	0.647																																						uc010enw.2		NaN																	0					0						c.(484-486)GAA>AAA		nuclear receptor subfamily 1, group H, member 2							34.0	41.0	39.0					19																	50881790		2067	4206	6273	SO:0001583	missense	7376				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr19:50881790G>A	U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.484G>A	19.37:g.50881790G>A	ENSP00000253727:p.Glu162Lys					NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Missense_Mutation_p.E162K|NR1H2_uc002psa.3_Missense_Mutation_p.E65K	p.E162K	NM_007121	NP_009052	P55055	NR1H2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	6	760	+		all_neural(266;0.057)	162					A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Missense_Mutation	SNP	ENST00000253727.5	37	c.484G>A	CCDS42593.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803596	0.70682	.	.	ENSG00000131408	ENST00000253727;ENST00000411902;ENST00000376942	D;D	0.93019	-3.15;-2.96	4.44	0.964	0.19655	Nuclear hormone receptor, ligand-binding (2);	0.180678	0.35615	N	0.003100	D	0.91600	0.7346	N	0.19112	0.55	0.80722	D	1	D;B;D	0.89917	1.0;0.001;1.0	D;B;D	0.87578	0.998;0.002;0.99	D	0.88546	0.3113	10	0.66056	D	0.02	.	6.5256	0.22299	0.1787:0.1482:0.6731:0.0	.	162;65;162	P55055;E7EWA6;F1D8P7	NR1H2_HUMAN;.;.	K	162;65;162	ENSP00000253727:E162K;ENSP00000396151:E65K	ENSP00000253727:E162K	E	+	1	0	NR1H2	55573602	1.000000	0.71417	0.075000	0.20258	0.815000	0.46073	6.053000	0.71089	0.195000	0.20347	0.561000	0.74099	GAA		0.647	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2				21	98	0	0	0	0.062417	0	21	98		
CD33	945	broad.mit.edu	37	19	51742831	51742831	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:51742831C>T	ENST00000262262.4	+	7	1004	c.983C>T	c.(982-984)gCc>gTc	p.A328V	CD33_ENST00000600557.1_3'UTR|CD33_ENST00000421133.2_Missense_Mutation_p.A201V	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	328					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TGTTCAGGTGCCGCCCCTACT	0.517																																						uc002pwa.2		NaN																	0					0						c.(982-984)GCC>GTC		CD33 antigen isoform 1 precursor	Gemtuzumab ozogamicin(DB00056)						114.0	100.0	105.0					19																	51742831		2203	4300	6503	SO:0001583	missense	945				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	g.chr19:51742831C>T	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1659	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 3"""	159590	"""CD33 antigen (gp67)"""			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.983C>T	19.37:g.51742831C>T	ENSP00000262262:p.Ala328Val					CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Missense_Mutation_p.A201V|CD33_uc010eou.1_RNA	p.A328V	NM_001772	NP_001763	P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	7	1023	+		all_neural(266;0.0199)	328			Cytoplasmic (Potential).		B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	c.983C>T	CCDS33084.1	.	.	.	.	.	.	.	.	.	.	C	8.188	0.795300	0.16327	.	.	ENSG00000105383	ENST00000262262;ENST00000421133	T;T	0.39229	2.14;1.09	2.51	0.317	0.15861	.	.	.	.	.	T	0.30978	0.0782	L	0.43923	1.385	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.12156	0.007;0.001	T	0.30001	-0.9993	9	0.59425	D	0.04	.	4.6612	0.12643	0.0:0.6767:0.0:0.3233	.	201;328	C9JEN7;P20138	.;CD33_HUMAN	V	328;201	ENSP00000262262:A328V;ENSP00000410126:A201V	ENSP00000262262:A328V	A	+	2	0	CD33	56434643	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.690000	0.05138	0.153000	0.19213	0.313000	0.20887	GCC		0.517	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2		NM_001772		11	31	0	0	0	0.09319	0	11	31		
ZNF468	90333	broad.mit.edu	37	19	53344325	53344325	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:53344325C>T	ENST00000595646.1	-	4	1342	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K	ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.E355K|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000396409.4_Missense_Mutation_p.E355K			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TAAGGTTTCTCTCCACTATGA	0.388																																						uc002qaf.2		NaN																	0				ovary(2)	2						c.(1222-1224)GAG>AAG		zinc finger protein ZNF468 isoform 2							94.0	95.0	94.0					19																	53344325		2203	4300	6503	SO:0001583	missense	90333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53344325C>T	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.1222G>A	19.37:g.53344325C>T	ENSP00000470381:p.Glu408Lys					ZNF468_uc002qae.2_Missense_Mutation_p.E355K	p.E408K	NM_001008801	NP_001008801	Q5VIY5	ZN468_HUMAN		GBM - Glioblastoma multiforme(134;0.0358)	4	1373	-			408					A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	ENST00000595646.1	37	c.1222G>A	CCDS33094.1	.	.	.	.	.	.	.	.	.	.	-	16.87	3.241864	0.58995	.	.	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651	T;T	0.24350	1.86;1.86	1.88	1.88	0.25563	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36110	0.0955	L	0.31294	0.92	0.31181	N	0.70204	D	0.89917	1.0	D	0.91635	0.999	T	0.36720	-0.9736	9	0.72032	D	0.01	.	10.8024	0.46495	0.0:1.0:0.0:0.0	.	408	Q5VIY5	ZN468_HUMAN	K	408;355;355	ENSP00000379690:E355K;ENSP00000445669:E355K	ENSP00000243639:E408K	E	-	1	0	ZNF468	58036137	0.944000	0.32072	0.992000	0.48379	0.359000	0.29487	2.066000	0.41452	1.043000	0.40175	0.409000	0.27619	GAG		0.388	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1		NM_001008801		29	110	0	0	0	0.034045	0	29	110		
NLRP12	91662	broad.mit.edu	37	19	54314478	54314478	+	Silent	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:54314478C>A	ENST00000324134.6	-	3	603	c.435G>T	c.(433-435)gcG>gcT	p.A145A	NLRP12_ENST00000535162.1_Silent_p.A145A|NLRP12_ENST00000391772.1_Silent_p.A145A|NLRP12_ENST00000351894.4_Silent_p.A145A|NLRP12_ENST00000391773.1_Silent_p.A145A|NLRP12_ENST00000391775.3_Silent_p.A145A|NLRP12_ENST00000354278.3_Silent_p.A145A|NLRP12_ENST00000345770.5_Silent_p.A145A	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	145					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.A145A(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCCCTAGGCGCGCATTGCGGT	0.567																																						uc002qch.3		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(433-435)GCG>GCT		NLR family, pyrin domain containing 12 isoform							91.0	88.0	89.0					19																	54314478		2203	4300	6503	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314478C>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.435G>T	19.37:g.54314478C>A						NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.A145A|NLRP12_uc002qcj.3_Silent_p.A145A|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.A145A	p.A145A	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	655	-	Ovarian(34;0.19)		145					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.435G>T	CCDS12864.1																																																																																				0.567	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1		NM_144687		26	138	1	0	3.69857e-22	0.037714	4.15455e-22	26	138		
NLRP7	199713	broad.mit.edu	37	19	55451478	55451478	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:55451478C>T	ENST00000590030.1	-	3	749	c.709G>A	c.(709-711)Gac>Aac	p.D237N	NLRP7_ENST00000328092.5_Missense_Mutation_p.D237N|NLRP7_ENST00000446217.1_Missense_Mutation_p.D265N|NLRP7_ENST00000592784.1_Missense_Mutation_p.D237N|NLRP7_ENST00000448121.2_Missense_Mutation_p.D237N|NLRP7_ENST00000340844.2_Missense_Mutation_p.D237N|NLRP7_ENST00000588756.1_Missense_Mutation_p.D237N			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	237	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CTTGGAATGTCATCCTGCAAT	0.557																																						uc002qih.3		NaN																	0				large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(709-711)GAC>AAC		NACHT, leucine rich repeat and PYD containing 7							120.0	119.0	119.0					19																	55451478		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55451478C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.709G>A	19.37:g.55451478C>T	ENSP00000465520:p.Asp237Asn					NLRP7_uc002qig.3_Missense_Mutation_p.D237N|NLRP7_uc002qii.3_Missense_Mutation_p.D237N|NLRP7_uc010esk.2_Missense_Mutation_p.D237N|NLRP7_uc010esl.2_Missense_Mutation_p.D265N	p.D237N	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	785	-			237			NACHT.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.709G>A	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823184	0.32237	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	1.76	0.649	0.17806	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.80783	0.4689	L	0.59436	1.845	0.09310	N	1	D;D;D;D	0.76494	0.999;0.998;0.999;0.998	D;D;D;D	0.68621	0.959;0.959;0.959;0.931	T	0.66085	-0.6011	9	0.46703	T	0.11	.	2.9979	0.06004	0.0:0.5168:0.2997:0.1835	.	265;237;237;237	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	N	237;237;237;265	ENSP00000329568:D237N;ENSP00000409137:D237N;ENSP00000339491:D237N;ENSP00000414273:D265N	ENSP00000329568:D237N	D	-	1	0	NLRP7	60143290	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.509000	0.06336	0.285000	0.22329	0.462000	0.41574	GAC		0.557	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1		NM_139176		35	127	0	0	0	0.069456	0	35	127		
ZNF548	147694	broad.mit.edu	37	19	57910071	57910071	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:57910071C>T	ENST00000366197.5	+	3	666	c.416C>T	c.(415-417)tCa>tTa	p.S139L	ZNF548_ENST00000336128.7_Missense_Mutation_p.S151L|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	139					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGATACCTTCATTTGGGAAG	0.478																																						uc002qom.2		NaN																	0				breast(1)	1						c.(415-417)TCA>TTA		zinc finger protein 548							88.0	84.0	85.0					19																	57910071		2012	4224	6236	SO:0001583	missense	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57910071C>T	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.416C>T	19.37:g.57910071C>T	ENSP00000379482:p.Ser139Leu					ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.S142L	p.S139L	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	666	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	139					Q96M05	Missense_Mutation	SNP	ENST00000366197.5	37	c.416C>T	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897612	0.52121	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.05855	3.38;3.42	2.34	1.3	0.21679	.	.	.	.	.	T	0.05868	0.0153	L	0.44542	1.39	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.003	T	0.36792	-0.9733	9	0.37606	T	0.19	.	4.9556	0.14038	0.0:0.8239:0.0:0.1761	.	151;139	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	L	151;139	ENSP00000337555:S151L;ENSP00000379482:S139L	ENSP00000337555:S151L	S	+	2	0	ZNF548	62601883	0.000000	0.05858	0.005000	0.12908	0.689000	0.40095	-0.090000	0.11163	0.564000	0.29238	0.591000	0.81541	TCA		0.478	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1		NM_152909		22	99	0	0	0	0.062417	0	22	99		
MYT1L	23040	broad.mit.edu	37	2	1983318	1983319	+	Nonsense_Mutation	DNP	CC	CC	AT			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:1983318_1983319CC>AT	ENST00000399161.2	-	7	810_811	c.63_64GG>AT	c.(61-66)gtGGaa>gtATaa	p.E22*	MYT1L_ENST00000428368.2_Nonsense_Mutation_p.E22*	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	22					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ATGGCTGGTTCCACGGGAACTG	0.45																																						uc002qxe.2		NaN																	0				ovary(5)|central_nervous_system(1)	6						c.(61-66)GTGGAA>GTATAA		myelin transcription factor 1-like																																				SO:0001587	stop_gained	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1983318_1983319CC>AT	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.63_64delinsAT	2.37:g.1983318_1983319delinsAT	ENSP00000382114:p.Glu22*					MYT1L_uc002qxd.2_Nonsense_Mutation_p.E22*	p.E22*	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	7	890_891	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	22					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Nonsense_Mutation	DNP	ENST00000399161.2	37	c.63_64GG>AT																																																																																					0.450	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1		NM_015025		18	43	0	0	0	0.004672	0	18	43		
CD207	50489	broad.mit.edu	37	2	71060168	71060168	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:71060168C>T	ENST00000410009.3	-	4	625	c.580G>A	c.(580-582)Gtg>Atg	p.V194M		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	194					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TGAGAAACCACCTGTAGAATA	0.453																																						uc002shg.2		NaN																	0				ovary(1)|lung(1)	2						c.(580-582)GTG>ATG		CD207 antigen, langerin							67.0	64.0	65.0					2																	71060168		1880	4108	5988	SO:0001583	missense	50489				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	g.chr2:71060168C>T	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.580G>A	2.37:g.71060168C>T	ENSP00000386378:p.Val194Met						p.V194M	NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN			4	627	-			194			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000410009.3	37	c.580G>A		.	.	.	.	.	.	.	.	.	.	C	0.005	-2.231772	0.00280	.	.	ENSG00000116031	ENST00000410009	T	0.29142	1.58	5.35	-3.52	0.04682	.	0.402198	0.23985	N	0.042628	T	0.08313	0.0207	N	0.02960	-0.455	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.12656	-1.0539	10	0.31617	T	0.26	.	1.9989	0.03463	0.1258:0.3123:0.1289:0.433	.	194	Q9UJ71	CLC4K_HUMAN	M	194	ENSP00000386378:V194M	ENSP00000386378:V194M	V	-	1	0	CD207	70913676	0.958000	0.32768	0.187000	0.23214	0.213000	0.24496	0.277000	0.18734	-0.388000	0.07797	-0.302000	0.09304	GTG		0.453	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4		NM_015717		27	18	0	0	0	0.099896	0	27	18		
DCTN1	1639	broad.mit.edu	37	2	74598210	74598210	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:74598210C>T	ENST00000361874.3	-	9	1056	c.739G>A	c.(739-741)Gag>Aag	p.E247K	DCTN1_ENST00000409438.1_Missense_Mutation_p.E113K|DCTN1_ENST00000409240.1_Missense_Mutation_p.E210K|DCTN1_ENST00000409567.3_Missense_Mutation_p.E227K|DCTN1_ENST00000409868.1_Missense_Mutation_p.E230K|DCTN1_ENST00000407639.2_Missense_Mutation_p.E113K|DCTN1_ENST00000394003.3_Missense_Mutation_p.E240K	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	247					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TTCTCCAGCTCTTTTAGCTTT	0.562																																						uc002skx.2		NaN																	0				ovary(3)|skin(2)	5						c.(739-741)GAG>AAG		dynactin 1 isoform 1							265.0	274.0	271.0					2																	74598210		2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74598210C>T		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.739G>A	2.37:g.74598210C>T	ENSP00000354791:p.Glu247Lys					DCTN1_uc002skv.2_Missense_Mutation_p.E113K|DCTN1_uc002sku.2_Missense_Mutation_p.E113K|DCTN1_uc002skw.1_Missense_Mutation_p.E223K|DCTN1_uc010ffd.2_Missense_Mutation_p.E227K|DCTN1_uc002sky.2_Missense_Mutation_p.E210K	p.E247K	NM_004082	NP_004073	Q14203	DCTN1_HUMAN			9	1050	-			247			Potential.		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.739G>A	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915803	0.92178	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.80909	-1.05;-1.23;-1.1;-1.1;-1.43;-1.25;-1.23	5.66	4.77	0.60923	.	0.000000	0.43579	D	0.000545	D	0.90889	0.7137	M	0.89414	3.03	0.80722	D	1	D;D;P;D;D;P	0.89917	0.997;0.976;0.598;1.0;0.999;0.72	D;P;B;D;D;B	0.80764	0.937;0.762;0.135;0.994;0.987;0.263	D	0.92463	0.5979	10	0.66056	D	0.02	-10.5779	15.4792	0.75511	0.0:0.8604:0.1396:0.0	.	227;210;247;240;113;113	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	K	247;240;230;113;113;210;230;227	ENSP00000354791:E247K;ENSP00000377571:E240K;ENSP00000384844:E113K;ENSP00000387270:E113K;ENSP00000386406:E210K;ENSP00000387327:E230K;ENSP00000386843:E227K	ENSP00000354791:E247K	E	-	1	0	DCTN1	74451718	1.000000	0.71417	0.996000	0.52242	0.959000	0.62525	7.766000	0.85320	1.364000	0.46038	0.655000	0.94253	GAG		0.562	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3		NM_004082		14	397	0	0	0	0.105934	0	14	397		
DQX1	165545	broad.mit.edu	37	2	74756363	74756363	+	5'Flank	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:74756363G>A	ENST00000404568.3	-	0	0				AUP1_ENST00000377526.3_Nonsense_Mutation_p.Q79*|HTRA2_ENST00000352222.3_5'Flank|HTRA2_ENST00000258080.3_5'Flank	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1							nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GAGTCCTCCTGCCGGGCCACG	0.587																																						uc010yry.1		NaN																	0					0						c.(235-237)CAG>TAG		SubName: Full=cDNA FLJ58836, highly similar to Ancient ubiquitous protein 1;							43.0	49.0	47.0					2																	74756363		2134	4236	6370	SO:0001631	upstream_gene_variant	550					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding	g.chr2:74756363G>A	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965		2.37:g.74756363G>A	Exception_encountered					DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_Nonsense_Mutation_p.Q79*|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_5'UTR|AUP1_uc010yrx.1_Nonsense_Mutation_p.Q136*|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank|HTRA2_uc010ffl.2_5'Flank	p.Q79*			Q9Y679	AUP1_HUMAN			3	453	-			79			Cytoplasmic (Potential).		Q6B017|Q8NAM8	Nonsense_Mutation	SNP	ENST00000404568.3	37	c.235C>T	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	G	38	6.656481	0.97739	.	.	ENSG00000115307	ENST00000377526;ENST00000258081;ENST00000412627	.	.	.	5.27	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3554	11.6578	0.51328	0.0854:0.0:0.9146:0.0	.	.	.	.	X	79;79;81	.	ENSP00000258081:Q79X	Q	-	1	0	AUP1	74609871	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.358000	0.66064	1.464000	0.47987	0.561000	0.74099	CAG		0.587	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3		NM_133637		8	26	0	0	0	0.038147	0	8	26		
HTRA2	27429	broad.mit.edu	37	2	74757942	74757942	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:74757942G>C	ENST00000258080.3	+	2	1335	c.705G>C	c.(703-705)caG>caC	p.Q235H	AUP1_ENST00000377526.3_5'Flank|HTRA2_ENST00000467961.1_3'UTR|HTRA2_ENST00000352222.3_Missense_Mutation_p.Q235H	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	235	Serine protease.				adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TGAGGATTCAGACTAAGGTGG	0.572																																						uc002smi.1		NaN																	0				ovary(1)	1						c.(703-705)CAG>CAC		HtrA serine peptidase 2 isoform 1 preproprotein							87.0	96.0	93.0					2																	74757942		2203	4300	6503	SO:0001583	missense	27429				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	g.chr2:74757942G>C		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.705G>C	2.37:g.74757942G>C	ENSP00000258080:p.Gln235His					AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Missense_Mutation_p.Q235H|HTRA2_uc002smk.1_Missense_Mutation_p.Q235H|HTRA2_uc002sml.1_Missense_Mutation_p.Q235H|HTRA2_uc002smm.1_5'UTR|HTRA2_uc002smn.1_5'UTR|HTRA2_uc010ffl.2_5'UTR	p.Q235H	NM_013247	NP_037379	O43464	HTRA2_HUMAN			2	1307	+			235			Serine protease.		Q9HBZ4|Q9P0Y3|Q9P0Y4	Missense_Mutation	SNP	ENST00000258080.3	37	c.705G>C	CCDS1951.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174019	0.38413	.	.	ENSG00000115317	ENST00000258080;ENST00000352222;ENST00000437202	D;D;D	0.88201	-2.35;-2.35;-2.35	4.94	1.9	0.25705	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	0.469306	0.23682	N	0.045616	D	0.88100	0.6346	L	0.42581	1.335	0.30385	N	0.781566	D;D;D;D	0.64830	0.99;0.993;0.994;0.99	P;P;P;P	0.58266	0.836;0.747;0.791;0.836	T	0.82872	-0.0242	10	0.34782	T	0.22	-8.0846	7.5807	0.27963	0.3168:0.0:0.6832:0.0	.	235;235;235;235	A8K7G2;O43464-3;O43464-2;O43464	.;.;.;HTRA2_HUMAN	H	235;235;222	ENSP00000258080:Q235H;ENSP00000312893:Q235H;ENSP00000399166:Q222H	ENSP00000258080:Q235H	Q	+	3	2	HTRA2	74611450	0.976000	0.34144	1.000000	0.80357	0.637000	0.38172	0.143000	0.16115	0.672000	0.31204	0.462000	0.41574	CAG		0.572	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2		NM_013247		43	123	0	0	0	0.092188	0	43	123		
FER1L5	90342	broad.mit.edu	37	2	97368447	97368447	+	RNA	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:97368447C>T	ENST00000457909.1	+	0	4869							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GACTACCTGGCGGCGGAGCGC	0.612																																						uc010fia.2		NaN																	0				ovary(1)	1						c.(5473-5475)GCG>GTG		fer-1-like 5 isoform 2							36.0	41.0	39.0					2																	97368447		2097	4226	6323			90342					integral to membrane		g.chr2:97368447C>T	BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"""fer-1-like 5 (C. elegans)"""				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		2.37:g.97368447C>T						FER1L5_uc002sws.3_Missense_Mutation_p.A534V|FER1L5_uc002swt.3_Missense_Mutation_p.A534V|FER1L5_uc010yus.1_Missense_Mutation_p.A533V	p.A1825V	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN			47	5474	+			1825			C2 6.		Q17RH2|Q6ZU24	Missense_Mutation	SNP	ENST00000457909.1	37	c.5474C>T		.	.	.	.	.	.	.	.	.	.	C	4.701	0.130360	0.08981	.	.	ENSG00000214272	ENST00000414152;ENST00000436930;ENST00000397978	.	.	.	4.99	1.06	0.20224	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	1.847400	0.03993	U	0.295248	T	0.30510	0.0767	L	0.34521	1.04	.	.	.	B;B;B	0.30439	0.008;0.279;0.03	B;B;B	0.17433	0.006;0.018;0.013	T	0.17992	-1.0351	8	0.42905	T	0.14	-0.3868	6.1372	0.20239	0.131:0.6467:0.0:0.2223	.	533;1825;534	B7ZLI3;A0AVI2;A0AVI2-2	.;FR1L5_HUMAN;.	V	1825;1829;534	.	ENSP00000442027:A534V	A	+	2	0	FER1L5	96732174	0.770000	0.28543	0.066000	0.19879	0.216000	0.24613	1.660000	0.37397	-0.023000	0.13963	0.561000	0.74099	GCG		0.612	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1		NM_001077400		8	23	0	0	0	0.038147	0	8	23		
KIAA1211L	343990	broad.mit.edu	37	2	99463239	99463239	+	Missense_Mutation	SNP	T	T	C	rs374021696		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:99463239T>C	ENST00000397899.2	-	2	356	c.25A>G	c.(25-27)Att>Gtt	p.I9V	KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	9																	CGAAGCTTAATGTCCATCACC	0.502																																						uc002szf.1		NaN																	0					0						c.(25-27)ATT>GTT		hypothetical protein LOC343990							99.0	99.0	99.0					2																	99463239		1988	4156	6144	SO:0001583	missense	343990							g.chr2:99463239T>C	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 55"""	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.25A>G	2.37:g.99463239T>C	ENSP00000380996:p.Ile9Val						p.I9V	NM_207362	NP_997245	Q6NV74	CB055_HUMAN			2	319	-			9						Missense_Mutation	SNP	ENST00000397899.2	37	c.25A>G	CCDS42720.1	.	.	.	.	.	.	.	.	.	.	T	12.21	1.870190	0.33069	.	.	ENSG00000196872	ENST00000397899;ENST00000423771;ENST00000428096;ENST00000415261;ENST00000420294	T	0.45276	0.9	5.41	-1.33	0.09172	.	0.992097	0.08186	N	0.984665	T	0.28200	0.0696	L	0.42245	1.32	0.20638	N	0.999875	B	0.19583	0.037	B	0.18561	0.022	T	0.30621	-0.9972	10	0.38643	T	0.18	-0.418	0.6511	0.00826	0.1548:0.2256:0.231:0.3885	.	9	Q6NV74	CB055_HUMAN	V	9;37;23;23;23	ENSP00000380996:I9V	ENSP00000380996:I9V	I	-	1	0	C2orf55	98829671	0.631000	0.27164	0.990000	0.47175	0.994000	0.84299	-0.487000	0.06505	-0.200000	0.10300	0.454000	0.30748	ATT		0.502	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1		NM_207362		57	65	0	0	0	0.048971	0	57	65		
IL1F10	84639	broad.mit.edu	37	2	113832410	113832410	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:113832410C>A	ENST00000393197.2	+	3	650	c.229C>A	c.(229-231)Cct>Act	p.P77T	IL1F10_ENST00000337569.3_Missense_Mutation_p.P77T|IL1F10_ENST00000341010.2_Missense_Mutation_p.P77T	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	77						extracellular space (GO:0005615)				endometrium(1)|lung(6)|ovary(1)	8						AGAAGAGGGGCCTTCCCTACA	0.602																																						uc002tiu.2		NaN																	0				ovary(1)	1						c.(229-231)CCT>ACT		interleukin 1 family, member 10							49.0	47.0	47.0					2																	113832410		2203	4300	6503	SO:0001583	missense	84639					extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113832410C>A	AY026753	CCDS2112.1	2q13	2011-07-14			ENSG00000136697	ENSG00000136697		"""Interleukins and interleukin receptors"""	15552	protein-coding gene	gene with protein product	"""FIL1- theta"", ""interleukin-1 receptor antagonist FKSG75"""	615296				11747621, 11991723, 11991722	Standard	NM_173161		Approved	FKSG75, IL-1HY2, IL-1F10, IL1-theta, MGC11983, MGC119832, MGC119833	uc002tiu.3	Q8WWZ1	OTTHUMG00000131339	ENST00000393197.2:c.229C>A	2.37:g.113832410C>A	ENSP00000376893:p.Pro77Thr					IL1F10_uc002tiv.2_Missense_Mutation_p.P77T|IL1F10_uc002tiw.2_Missense_Mutation_p.P69T	p.P77T	NM_173161	NP_775184	Q8WWZ1	IL1FA_HUMAN			4	304	+			77					Q53SR9|Q56AT8|Q7RTZ5|Q969H5|Q9BYX1	Missense_Mutation	SNP	ENST00000393197.2	37	c.229C>A	CCDS2112.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463328	0.63513	.	.	ENSG00000136697	ENST00000341010;ENST00000337569;ENST00000393197	T;T;T	0.21734	1.99;1.99;1.99	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.46308	0.1386	M	0.75447	2.3	0.40593	D	0.981502	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.43702	-0.9375	10	0.51188	T	0.08	-13.6267	14.3565	0.66740	0.0:1.0:0.0:0.0	.	77;77	Q8WWZ1-2;Q8WWZ1	.;IL1FA_HUMAN	T	77	ENSP00000341794:P77T;ENSP00000338418:P77T;ENSP00000376893:P77T	ENSP00000338418:P77T	P	+	1	0	IL1F10	113548881	0.995000	0.38212	0.996000	0.52242	0.960000	0.62799	3.739000	0.55075	2.539000	0.85634	0.655000	0.94253	CCT		0.602	IL1F10-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330725.1		NM_173161		13	41	1	0	2.27111e-07	0.09319	2.38758e-07	13	41		
NCKAP5	344148	broad.mit.edu	37	2	133542251	133542251	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:133542251C>A	ENST00000409261.1	-	14	2506	c.2133G>T	c.(2131-2133)gaG>gaT	p.E711D	NCKAP5_ENST00000317721.6_Missense_Mutation_p.E711D|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	711										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GAGGTAAAAGCTCAGTATGTT	0.433																																						uc002ttp.2		NaN																	0					0						c.(2131-2133)GAG>GAT		Nck-associated protein 5 isoform 1							109.0	102.0	104.0					2																	133542251		1869	4110	5979	SO:0001583	missense	344148						protein binding	g.chr2:133542251C>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.2133G>T	2.37:g.133542251C>A	ENSP00000387128:p.Glu711Asp					NCKAP5_uc002ttq.2_Intron	p.E711D	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	2507	-			711					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.2133G>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	c	12.73	2.024715	0.35701	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.48201	0.82;0.82	5.64	3.24	0.37175	.	0.000000	0.39759	U	0.001274	T	0.34019	0.0883	L	0.34521	1.04	0.80722	D	1	B	0.31435	0.323	B	0.30495	0.116	T	0.13495	-1.0507	10	0.62326	D	0.03	.	7.7018	0.28627	0.0:0.0704:0.139:0.7905	.	711	O14513	NCKP5_HUMAN	D	711	ENSP00000387128:E711D;ENSP00000380603:E711D	ENSP00000380603:E711D	E	-	3	2	NCKAP5	133258721	1.000000	0.71417	0.624000	0.29186	0.967000	0.64934	1.303000	0.33470	0.529000	0.28599	-0.304000	0.09214	GAG		0.433	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1		NM_207481		30	111	1	0	1.16021e-09	0.034045	1.24634e-09	30	111		
GRB14	2888	broad.mit.edu	37	2	165350941	165350941	+	Splice_Site	SNP	T	T	C	rs200139965		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:165350941T>C	ENST00000263915.3	-	13	2014	c.1476A>G	c.(1474-1476)ccA>ccG	p.P492P	GRB14_ENST00000543549.1_Splice_Site_p.P405P|GRB14_ENST00000497306.1_Intron	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	492	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						AATTACTTACTGGTATAATTT	0.323																																						uc002ucl.2		NaN																	0				ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7						c.(1474-1476)CCA>CCG		growth factor receptor-bound protein 14		T		0,4406		0,0,2203	126.0	129.0	128.0		1476	1.5	1.0	2		128	4,8594	3.7+/-12.6	0,4,4295	yes	coding-synonymous-near-splice	GRB14	NM_004490.2		0,4,6498	CC,CT,TT		0.0465,0.0,0.0308		492/541	165350941	4,13000	2203	4299	6502	SO:0001630	splice_region_variant	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165350941T>C		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.1476+1A>G	2.37:g.165350941T>C						GRB14_uc010zcv.1_Silent_p.P405P|GRB14_uc002ucm.2_RNA	p.P492P	NM_004490	NP_004481	Q14449	GRB14_HUMAN			13	2017	-			492			SH2.		B7Z7F9|Q7Z6I1	Silent	SNP	ENST00000263915.3	37	c.1476A>G	CCDS2222.1																																																																																				0.323	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			Silent	33	38	0	0	0	0.059317	0	33	38		
SCN9A	6335	broad.mit.edu	37	2	167108339	167108339	+	Silent	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:167108339T>C	ENST00000409435.1	-	17	3407	c.3408A>G	c.(3406-3408)ggA>ggG	p.G1136G	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.G1137G|SCN9A_ENST00000409672.1_Silent_p.G1125G|SCN9A_ENST00000375387.4_Silent_p.G1137G			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1136					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTTCTCCTTCTCCAGGCAAAG	0.458																																						uc010fpl.2		NaN																	0				ovary(6)|central_nervous_system(5)|skin(2)	13						c.(3373-3375)GGA>GGG		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						103.0	96.0	98.0					2																	167108339		1907	4120	6027	SO:0001819	synonymous_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167108339T>C	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.3408A>G	2.37:g.167108339T>C						uc002udp.2_RNA	p.G1125G	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			18	3716	-			1136					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	c.3375A>G	CCDS46441.1																																																																																				0.458	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1		NM_002977		11	46	0	0	0	0.09319	0	11	46		
TTN	7273	broad.mit.edu	37	2	179425858	179425858	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:179425858T>C	ENST00000591111.1	-	276	80302	c.80078A>G	c.(80077-80079)gAc>gGc	p.D26693G	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D28334G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D19394G|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D19461G|TTN_ENST00000460472.2_Missense_Mutation_p.D19269G|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D25766G			Q8WZ42	TITIN_HUMAN	titin	26693	Fibronectin type-III 94. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTAACTGAGTCAGCAGCATT	0.383																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(77296-77298)GAC>GGC		titin isoform N2-A							98.0	96.0	97.0					2																	179425858		1913	4111	6024	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179425858T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.80078A>G	2.37:g.179425858T>C	ENSP00000465570:p.Asp26693Gly					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D19461G|TTN_uc010zfi.1_Missense_Mutation_p.D19394G|TTN_uc010zfj.1_Missense_Mutation_p.D19269G	p.D25766G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	77521	-			26693					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.77297A>G		.	.	.	.	.	.	.	.	.	.	T	8.707	0.911107	0.17833	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.84	4.65	0.58169	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.04543	0.0124	N	0.00001	-3.75	0.38348	D	0.94425	B;B;B;B	0.09022	0.002;0.002;0.002;0.001	B;B;B;B	0.10450	0.005;0.005;0.005;0.003	T	0.30563	-0.9974	9	0.87932	D	0	.	6.6465	0.22939	0.0:0.2802:0.0:0.7198	.	19269;19394;19461;26693	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	25766;19269;19461;19394;19267	ENSP00000343764:D25766G;ENSP00000434586:D19269G;ENSP00000340554:D19461G;ENSP00000352154:D19394G	ENSP00000340554:D19461G	D	-	2	0	TTN	179134104	1.000000	0.71417	0.997000	0.53966	0.690000	0.40134	3.170000	0.50816	0.997000	0.38969	0.459000	0.35465	GAC		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		31	127	0	0	0	0.045705	0	31	127		
TTN	7273	broad.mit.edu	37	2	179634499	179634499	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:179634499G>A	ENST00000591111.1	-	37	9033	c.8809C>T	c.(8809-8811)Cag>Tag	p.Q2937*	TTN_ENST00000360870.5_Nonsense_Mutation_p.Q2937*|TTN_ENST00000589042.1_Nonsense_Mutation_p.Q2937*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Q2891*|TTN_ENST00000342175.6_Nonsense_Mutation_p.Q2891*|TTN_ENST00000460472.2_Nonsense_Mutation_p.Q2891*|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q2937*			Q8WZ42	TITIN_HUMAN	titin	13267	Ig-like 16.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGATCAGCTGATGGAGTTTT	0.473																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(8809-8811)CAG>TAG		titin isoform N2-A							211.0	205.0	207.0					2																	179634499		2203	4300	6503	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179634499G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8809C>T	2.37:g.179634499G>A	ENSP00000465570:p.Gln2937*					TTN_uc010zfh.1_Nonsense_Mutation_p.Q2891*|TTN_uc010zfi.1_Nonsense_Mutation_p.Q2891*|TTN_uc010zfj.1_Nonsense_Mutation_p.Q2891*|TTN_uc002unb.2_Nonsense_Mutation_p.Q2937*	p.Q2937*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		37	9033	-			2937					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.8809C>T		.	.	.	.	.	.	.	.	.	.	G	51	18.269014	0.99902	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.3363	0.98740	0.0:0.0:1.0:0.0	.	.	.	.	X	2937;2891;2891;2891;2891;2937	.	ENSP00000340554:Q2891X	Q	-	1	0	TTN	179342744	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.814000	0.96858	0.563000	0.77884	CAG		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		50	182	0	0	0	0.048971	0	50	182		
INO80D	54891	broad.mit.edu	37	2	206872144	206872144	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:206872144C>T	ENST00000403263.1	-	10	2186	c.1782G>A	c.(1780-1782)ctG>ctA	p.L594L	Vault_ENST00000516676.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	594					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CATCAGCACTCAGCTCTGGCG	0.498																																						uc002vaz.3		NaN																	0				ovary(1)	1						c.(1780-1782)CTG>CTA		INO80 complex subunit D							127.0	127.0	127.0					2																	206872144		2070	4223	6293	SO:0001819	synonymous_variant	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206872144C>T		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.1782G>A	2.37:g.206872144C>T							p.L594L	NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN			10	2187	-			594					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Silent	SNP	ENST00000403263.1	37	c.1782G>A	CCDS46500.1																																																																																				0.498	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1		NM_017759		8	165	0	0	0	0.058154	0	8	165		
ZDBF2	57683	broad.mit.edu	37	2	207170653	207170653	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:207170653G>A	ENST00000374423.3	+	5	1787	c.1401G>A	c.(1399-1401)atG>atA	p.M467I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	467							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AATCCCAAATGATTGTTAAAG	0.323																																						uc002vbp.2		NaN																	0				ovary(3)	3						c.(1399-1401)ATG>ATA		zinc finger, DBF-type containing 2							42.0	39.0	40.0					2																	207170653		1842	4090	5932	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207170653G>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1401G>A	2.37:g.207170653G>A	ENSP00000363545:p.Met467Ile						p.M467I	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	1651	+			467					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.1401G>A	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	8.381	0.837598	0.16891	.	.	ENSG00000204186	ENST00000374423	T	0.39229	1.09	4.89	-2.09	0.07232	.	0.510728	0.14740	N	0.301221	T	0.13243	0.0321	N	0.02011	-0.69	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.23190	-1.0195	10	0.22109	T	0.4	.	5.8777	0.18838	0.4178:0.1354:0.4468:0.0	.	467	Q9HCK1	ZDBF2_HUMAN	I	467	ENSP00000363545:M467I	ENSP00000363545:M467I	M	+	3	0	ZDBF2	206878898	0.999000	0.42202	0.001000	0.08648	0.000000	0.00434	1.162000	0.31786	-0.536000	0.06298	-1.191000	0.01696	ATG		0.323	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1		NM_020923		11	19	0	0	0	0.069234	0	11	19		
FASTKD2	22868	broad.mit.edu	37	2	207636741	207636741	+	Splice_Site	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:207636741G>T	ENST00000236980.6	+	5	1462	c.1114G>T	c.(1114-1116)Gat>Tat	p.D372Y	FASTKD2_ENST00000402774.3_Splice_Site_p.D372Y|FASTKD2_ENST00000403094.3_Splice_Site_p.D372Y	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	372					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		GGTGGTCCTAGGTAAGAGGAA	0.333																																						uc002vbu.2		NaN																	0				ovary(2)|skin(1)	3						c.(1114-1116)GAT>TAT		FAST kinase domains 2							137.0	140.0	139.0					2																	207636741		2203	4300	6503	SO:0001630	splice_region_variant	22868				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:207636741G>T	BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"""KIAA0971"""	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.1114+1G>T	2.37:g.207636741G>T						FASTKD2_uc002vbv.2_Missense_Mutation_p.D372Y|FASTKD2_uc002vbx.2_Missense_Mutation_p.D372Y|FASTKD2_uc002vbw.1_Missense_Mutation_p.D372Y	p.D372Y	NM_001136193	NP_001129665	Q9NYY8	FAKD2_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)	5	1524	+			372					Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	ENST00000236980.6	37	c.1114G>T	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782527	0.31502	.	.	ENSG00000118246	ENST00000236980;ENST00000402774;ENST00000403094	T;T;T	0.14893	2.47;2.47;2.47	5.59	4.7	0.59300	.	0.824644	0.11031	N	0.607173	T	0.16428	0.0395	N	0.14661	0.345	0.58432	D	0.999999	P;P	0.48016	0.904;0.874	P;B	0.51135	0.66;0.438	T	0.03306	-1.1050	10	0.62326	D	0.03	-27.5376	7.0472	0.25052	0.2728:0.0:0.7272:0.0	.	372;372	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	Y	372	ENSP00000236980:D372Y;ENSP00000385990:D372Y;ENSP00000384929:D372Y	ENSP00000236980:D372Y	D	+	1	0	FASTKD2	207344986	1.000000	0.71417	0.970000	0.41538	0.430000	0.31655	3.640000	0.54350	1.326000	0.45319	0.460000	0.39030	GAT		0.333	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2		NM_014929	Missense_Mutation	8	141	1	0	0.000157383	0.038147	0.000162673	8	141		
CHRND	1144	broad.mit.edu	37	2	233391291	233391291	+	Missense_Mutation	SNP	G	G	C	rs541089636		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:233391291G>C	ENST00000258385.3	+	2	137	c.105G>C	c.(103-105)gaG>gaC	p.E35D	CHRND_ENST00000536614.1_Missense_Mutation_p.E35D|CHRND_ENST00000543200.1_Missense_Mutation_p.E35D|CHRND_ENST00000457943.2_5'UTR	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	35					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	TGTTTCAAGAGAAGGGCTACA	0.632																																						uc002vsw.2		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(103-105)GAG>GAC		nicotinic acetylcholine receptor delta							73.0	76.0	75.0					2																	233391291		2203	4300	6503	SO:0001583	missense	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233391291G>C	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.105G>C	2.37:g.233391291G>C	ENSP00000258385:p.Glu35Asp					CHRND_uc010zmg.1_Missense_Mutation_p.E35D|CHRND_uc010fyc.2_5'UTR|CHRND_uc010zmh.1_5'UTR	p.E35D	NM_000751	NP_000742	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	2	109	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	35			Extracellular (Potential).		A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	c.105G>C	CCDS2494.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.700566	0.30142	.	.	ENSG00000135902	ENST00000449596;ENST00000543200;ENST00000258385;ENST00000536614	T;T;T;T	0.78816	-0.58;-1.21;-1.21;-1.21	4.73	2.91	0.33838	Neurotransmitter-gated ion-channel ligand-binding (3);	0.554806	0.12836	U	0.435213	T	0.75436	0.3849	N	0.19112	0.55	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.65140	0.932;0.932	T	0.64744	-0.6335	10	0.13853	T	0.58	.	11.1538	0.48476	0.1513:0.0:0.8486:0.0	.	35;35	B4DT92;Q07001	.;ACHD_HUMAN	D	35	ENSP00000404950:E35D;ENSP00000438380:E35D;ENSP00000258385:E35D;ENSP00000437740:E35D	ENSP00000258385:E35D	E	+	3	2	CHRND	233099535	1.000000	0.71417	0.247000	0.24249	0.093000	0.18481	5.292000	0.65673	0.593000	0.29745	-0.136000	0.14681	GAG		0.632	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2				6	43	0	0	0	0.021553	0	6	43		
TRPM8	79054	broad.mit.edu	37	2	234878872	234878872	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:234878872G>A	ENST00000324695.4	+	17	2197	c.2157G>A	c.(2155-2157)aaG>aaA	p.K719K	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	719					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CTGTCGACAAGCACAAGAAGC	0.532																																						uc002vvh.2		NaN																	0				skin(4)	4						c.(2155-2157)AAG>AAA		transient receptor potential cation channel,	Menthol(DB00825)						408.0	331.0	357.0					2																	234878872		2203	4300	6503	SO:0001819	synonymous_variant	79054					integral to membrane		g.chr2:234878872G>A	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2157G>A	2.37:g.234878872G>A						TRPM8_uc010fyj.2_Intron	p.K719K	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	17	2197	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	719			Extracellular (Potential).		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	37	c.2157G>A	CCDS33407.1																																																																																				0.532	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4		NM_024080		6	95	0	0	0	0.02938	0	6	95		
XRN2	22803	broad.mit.edu	37	20	21309203	21309203	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr20:21309203C>T	ENST00000377191.3	+	4	417	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C	XRN2_ENST00000539513.1_Missense_Mutation_p.R54C|XRN2_ENST00000430571.2_Missense_Mutation_p.R32C	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	108					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TCAGGCACCACGTGCTAAAAT	0.388																																						uc002wsf.1		NaN																	0				skin(1)	1						c.(322-324)CGT>TGT		5'-3' exoribonuclease 2							76.0	73.0	74.0					20																	21309203		2203	4300	6503	SO:0001583	missense	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21309203C>T	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.322C>T	20.37:g.21309203C>T	ENSP00000366396:p.Arg108Cys					XRN2_uc002wsg.1_Missense_Mutation_p.R32C|XRN2_uc010zsk.1_Missense_Mutation_p.R54C	p.R108C	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN			4	417	+			108					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	c.322C>T	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.576692	0.86645	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.40756	1.02;1.04;1.02	5.35	4.4	0.53042	Putative 5-3 exonuclease (1);	0.000000	0.85682	D	0.000000	T	0.71350	0.3329	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79181	-0.1909	10	0.87932	D	0	-13.3337	14.4126	0.67124	0.0:0.9274:0.0:0.0726	.	108	Q9H0D6	XRN2_HUMAN	C	108;32;54	ENSP00000366396:R108C;ENSP00000413548:R32C;ENSP00000441113:R54C	ENSP00000366396:R108C	R	+	1	0	XRN2	21257203	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	5.571000	0.67404	2.505000	0.84491	0.591000	0.81541	CGT		0.388	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2		NM_012255		8	27	0	0	0	0.038147	0	8	27		
SERINC3	10955	broad.mit.edu	37	20	43138622	43138622	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr20:43138622G>A	ENST00000342374.4	-	5	680	c.523C>T	c.(523-525)Cag>Tag	p.Q175*	SERINC3_ENST00000255175.1_Nonsense_Mutation_p.Q175*|SERINC3_ENST00000541235.1_Nonsense_Mutation_p.Q120*	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	175					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			AGCACCAGCTGAATGAGGATG	0.433																																						uc002xme.2		NaN																	0				skin(3)	3						c.(523-525)CAG>TAG		tumor differentially expressed protein 1							148.0	131.0	137.0					20																	43138622		2203	4300	6503	SO:0001587	stop_gained	10955					integral to membrane|plasma membrane	protein binding	g.chr20:43138622G>A	U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.523C>T	20.37:g.43138622G>A	ENSP00000340243:p.Gln175*					SERINC3_uc002xmf.1_Nonsense_Mutation_p.Q175*|SERINC3_uc010ggs.1_Nonsense_Mutation_p.Q168*|SERINC3_uc010zwp.1_Nonsense_Mutation_p.Q120*	p.Q175*	NM_198941	NP_945179	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		5	657	-		Myeloproliferative disorder(115;0.0122)	175			Helical; (Potential).		B4DUE9|O43717|Q9BR33	Nonsense_Mutation	SNP	ENST00000342374.4	37	c.523C>T	CCDS13333.1	.	.	.	.	.	.	.	.	.	.	G	37	6.015700	0.97205	.	.	ENSG00000132824	ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-13.1589	19.9142	0.97043	0.0:0.0:1.0:0.0	.	.	.	.	X	175;175;142;120	.	ENSP00000255175:Q175X	Q	-	1	0	SERINC3	42572036	1.000000	0.71417	1.000000	0.80357	0.172000	0.22775	9.564000	0.98151	2.941000	0.99782	0.655000	0.94253	CAG		0.433	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3		NM_006811		15	664	0	0	0	0.020292	0	15	664		
CD40	958	broad.mit.edu	37	20	44756829	44756829	+	Silent	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr20:44756829C>A	ENST00000372285.3	+	7	684	c.612C>A	c.(610-612)atC>atA	p.I204I	CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372276.3_Missense_Mutation_p.P184T	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	204					B cell proliferation (GO:0042100)|cellular calcium ion homeostasis (GO:0006874)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|protein complex assembly (GO:0006461)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	CD40 receptor complex (GO:0035631)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|enzyme binding (GO:0019899)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)				TCTTCGGGATCCTGTTTGCCA	0.572									Immune Deficiency with Hyper-IgM		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xrg.1		NaN																	0				lung(1)|skin(1)	2						c.(610-612)ATC>ATA		CD40 antigen isoform 1 precursor	Simvastatin(DB00641)						198.0	173.0	182.0					20																	44756829		2203	4300	6503	SO:0001819	synonymous_variant	958	Immune_Deficiency_with_Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity	g.chr20:44756829C>A	X60592	CCDS13393.1, CCDS13394.1	20q12-q13.2	2014-09-17	2006-03-28	2005-01-14	ENSG00000101017	ENSG00000101017		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11919	protein-coding gene	gene with protein product		109535	"""tumor necrosis factor receptor superfamily, member 5"""	TNFRSF5		7687385, 2998589	Standard	XM_005260617		Approved	p50, Bp50	uc002xrg.1	P25942	OTTHUMG00000033053	ENST00000372285.3:c.612C>A	20.37:g.44756829C>A			OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	926	CD40_uc002xrh.1_Missense_Mutation_p.P184T|CD40_uc002xri.1_Missense_Mutation_p.P218T|CD40_uc002xrj.1_RNA|CD40_uc002xrk.1_RNA|CD40_uc002xrl.1_RNA	p.I204I	NM_001250	NP_001241	P25942	TNR5_HUMAN			7	689	+		Myeloproliferative disorder(115;0.0122)	204			Helical; (Potential).		E1P5S9|Q53GN5|Q5JY15|Q5U007|Q7M4Q8|Q86YK5|Q9BYU0	Silent	SNP	ENST00000372285.3	37	c.612C>A	CCDS13393.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150245	0.37923	.	.	ENSG00000101017	ENST00000372276	T	0.79653	-1.29	4.58	3.56	0.40772	.	.	.	.	.	T	0.69584	0.3127	.	.	.	0.09310	N	1	D	0.55385	0.971	P	0.52957	0.714	T	0.61436	-0.7063	8	0.02654	T	1	-1.3053	6.7612	0.23542	0.0:0.8711:0.0:0.1289	.	184	P25942-2	.	T	184	ENSP00000361350:P184T	ENSP00000361350:P184T	P	+	1	0	CD40	44190236	0.193000	0.23313	0.066000	0.19879	0.073000	0.16967	1.968000	0.40500	2.371000	0.80710	0.491000	0.48974	CCT		0.572	CD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080376.1		NM_001250		17	85	1	0	9.16793e-09	0.0333	9.72117e-09	17	85		
COL20A1	57642	broad.mit.edu	37	20	61943386	61943386	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr20:61943386C>T	ENST00000358894.6	+	14	1882	c.1782C>T	c.(1780-1782)agC>agT	p.S594S	COL20A1_ENST00000435874.1_Silent_p.S601S|COL20A1_ENST00000326996.6_Silent_p.S594S|COL20A1_ENST00000422202.1_Silent_p.S601S	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	594	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					ATGTGTCCAGCGAGGGTGGAC	0.677																																						uc011aau.1		NaN																	0				central_nervous_system(1)	1						c.(1780-1782)AGC>AGT		collagen, type XX, alpha 1							22.0	26.0	25.0					20																	61943386		1940	4127	6067	SO:0001819	synonymous_variant	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61943386C>T	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.1782C>T	20.37:g.61943386C>T						COL20A1_uc011aav.1_Silent_p.S415S	p.S594S	NM_020882	NP_065933	Q9P218	COKA1_HUMAN			14	1882	+	all_cancers(38;1.39e-10)		594			Fibronectin type-III 4.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	ENST00000358894.6	37	c.1782C>T	CCDS46628.1																																																																																				0.677	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2		NM_020882		11	28	0	0	0	0.069234	0	11	28		
GABPA	2551	broad.mit.edu	37	21	27141436	27141436	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr21:27141436G>A	ENST00000354828.3	+	10	1785	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	GABPA_ENST00000400075.3_Missense_Mutation_p.E420K	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	420					cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|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 coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						TTTGGTCACAGAATGTGAACA	0.448																																						uc002ylx.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1258-1260)GAA>AAA		GA binding protein transcription factor, alpha							69.0	72.0	71.0					21																	27141436		2203	4299	6502	SO:0001583	missense	2551				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr21:27141436G>A		CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"""human nuclear respiratory factor-2 subunit alpha"", ""nuclear respiratory factor 2 alpha subunit"""	600609	"""GA-binding protein transcription factor, alpha subunit (60kD)"""			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.1258G>A	21.37:g.27141436G>A	ENSP00000346886:p.Glu420Lys					GABPA_uc002yly.3_Missense_Mutation_p.E420K	p.E420K	NM_002040	NP_002031	Q06546	GABPA_HUMAN			10	1785	+			420					Q12939	Missense_Mutation	SNP	ENST00000354828.3	37	c.1258G>A	CCDS13575.1	.	.	.	.	.	.	.	.	.	.	G	32	5.162295	0.94727	.	.	ENSG00000154727	ENST00000354828;ENST00000400075	T;T	0.13538	2.58;2.58	5.76	5.76	0.90799	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.096626	0.64402	D	0.000001	T	0.26159	0.0638	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	P	0.59643	0.861	T	0.00262	-1.1867	10	0.54805	T	0.06	.	19.5484	0.95308	0.0:0.0:1.0:0.0	.	420	Q06546	GABPA_HUMAN	K	420	ENSP00000346886:E420K;ENSP00000382948:E420K	ENSP00000346886:E420K	E	+	1	0	GABPA	26063307	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.308000	0.96247	2.725000	0.93324	0.585000	0.79938	GAA		0.448	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1		NM_002040		38	102	0	0	0	0.086207	0	38	102		
C2CD2	25966	broad.mit.edu	37	21	43321769	43321769	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr21:43321769G>A	ENST00000380486.3	-	12	1763	c.1522C>T	c.(1522-1524)Cgg>Tgg	p.R508W	C2CD2_ENST00000329623.7_Missense_Mutation_p.R353W	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	508						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CTTTTCTTCCGTGGCGACTTG	0.498																																						uc002yzw.2		NaN																	0				ovary(1)	1						c.(1522-1524)CGG>TGG		C2 calcium-dependent domain containing 2 isoform							228.0	161.0	184.0					21																	43321769		2203	4300	6503	SO:0001583	missense	25966					cytosol|extracellular region|nucleus		g.chr21:43321769G>A	AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"""TMEM24-like"""		"""chromosome 21 open reading frame 25"""	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1522C>T	21.37:g.43321769G>A	ENSP00000369853:p.Arg508Trp					C2CD2_uc002yzs.2_Translation_Start_Site|C2CD2_uc002yzt.2_Missense_Mutation_p.R124W|C2CD2_uc002yzu.2_Missense_Mutation_p.R340W|C2CD2_uc002yzv.2_Missense_Mutation_p.R353W|C2CD2_uc002yzx.1_Missense_Mutation_p.R353W	p.R508W	NM_015500	NP_056315	Q9Y426	CU025_HUMAN			12	1764	-			508					Q5R2V7|Q6AHX8|Q9NSE6	Missense_Mutation	SNP	ENST00000380486.3	37	c.1522C>T	CCDS42933.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615588	0.46631	.	.	ENSG00000157617	ENST00000329623;ENST00000380486	T;T	0.77229	-1.08;-1.08	4.98	1.96	0.26148	.	0.263818	0.37809	N	0.001937	T	0.80292	0.4596	L	0.41027	1.25	0.29298	N	0.868889	D;D	0.89917	1.0;1.0	D;D	0.79108	0.936;0.992	T	0.73248	-0.4043	10	0.66056	D	0.02	-43.8378	9.3129	0.37917	0.0:0.1126:0.4684:0.419	.	353;508	Q6P6D1;Q9Y426	.;CU025_HUMAN	W	353;508	ENSP00000329302:R353W;ENSP00000369853:R508W	ENSP00000329302:R353W	R	-	1	2	C2CD2	42194838	0.481000	0.25941	0.760000	0.31359	0.303000	0.27691	0.964000	0.29306	1.217000	0.43442	0.655000	0.94253	CGG		0.498	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2		NM_015500		22	56	0	0	0	0.0918	0	22	56		
OSM	5008	broad.mit.edu	37	22	30659956	30659956	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr22:30659956G>A	ENST00000215781.2	-	3	715	c.675C>T	c.(673-675)caC>caT	p.H225H	OSM_ENST00000403389.1_Silent_p.H204H	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	225					behavioral response to pain (GO:0048266)|cell proliferation (GO:0008283)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|peripheral nervous system development (GO:0007422)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|response to heat (GO:0009408)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	extracellular space (GO:0005615)|oncostatin-M receptor complex (GO:0005900)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|oncostatin-M receptor binding (GO:0005147)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			TCAGGGCCTGGTGGGGGCTGT	0.657																																						uc003ahb.2		NaN																	0				skin(1)	1						c.(673-675)CAC>CAT		oncostatin M precursor							69.0	74.0	72.0					22																	30659956		2203	4300	6503	SO:0001819	synonymous_variant	5008				cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding	g.chr22:30659956G>A	AF129855	CCDS13873.1	22q12.2	2011-07-21			ENSG00000099985	ENSG00000099985			8506	protein-coding gene	gene with protein product		165095				1717982	Standard	NM_020530		Approved	MGC20461	uc003ahb.3	P13725	OTTHUMG00000150913	ENST00000215781.2:c.675C>T	22.37:g.30659956G>A							p.H225H	NM_020530	NP_065391	P13725	ONCM_HUMAN	Epithelial(10;0.206)		3	727	-			225					Q6FHP8|Q9UCP6	Silent	SNP	ENST00000215781.2	37	c.675C>T	CCDS13873.1																																																																																				0.657	OSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320512.1		NM_020530		7	216	0	0	0	0.038147	0	7	216		
C22orf24	25775	broad.mit.edu	37	22	32330184	32330184	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr22:32330184G>A	ENST00000248984.3	-	3	569	c.403C>T	c.(403-405)Ctg>Ttg	p.L135L	C22orf24_ENST00000486651.1_5'UTR|C22orf24_ENST00000543051.1_Silent_p.L202L	NM_015372.1	NP_056187.1	Q9Y442	CV024_HUMAN	chromosome 22 open reading frame 24	135						integral component of membrane (GO:0016021)				central_nervous_system(1)|urinary_tract(1)	2						GGCTCCCTCAGGGCCTGGTGG	0.532																																						uc003aly.2		NaN																	0				central_nervous_system(1)	1						c.(403-405)CTG>TTG		hypothetical protein LOC25775							30.0	31.0	31.0					22																	32330184		1997	4179	6176	SO:0001819	synonymous_variant	25775					integral to membrane		g.chr22:32330184G>A		CCDS46693.1	22q12.1-q12.3	2004-05-05			ENSG00000128254	ENSG00000128254			23051	protein-coding gene	gene with protein product							Standard	XM_005261497		Approved	HSN44A4A	uc003aly.3	Q9Y442	OTTHUMG00000030834	ENST00000248984.3:c.403C>T	22.37:g.32330184G>A						C22orf24_uc003alx.2_RNA	p.L135L	NM_015372	NP_056187	Q9Y442	CV024_HUMAN			3	570	-			135					B2RCT4|Q5K3R1	Silent	SNP	ENST00000248984.3	37	c.403C>T	CCDS46693.1																																																																																				0.532	C22orf24-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075722.2		NM_015372		17	4	0	0	0	0.038395	0	17	4		
GRM7	2917	broad.mit.edu	37	3	6903549	6903549	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:6903549G>A	ENST00000357716.4	+	1	748	c.474G>A	c.(472-474)ggG>ggA	p.G158G	GRM7_ENST00000486284.1_Silent_p.G158G|GRM7_ENST00000402647.2_Silent_p.G158G|GRM7_ENST00000403881.1_Silent_p.G158G|GRM7_ENST00000389336.4_Silent_p.G158G	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	158					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						GGGCTTCGGGGAGTTCGGTCT	0.612																																						uc003bqm.2		NaN																	0				ovary(4)|lung(3)	7						c.(472-474)GGG>GGA		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)						79.0	84.0	83.0					3																	6903549		2203	4300	6503	SO:0001819	synonymous_variant	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:6903549G>A	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.474G>A	3.37:g.6903549G>A						GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.G158G|GRM7_uc003bql.2_Silent_p.G158G	p.G158G	NM_000844	NP_000835	Q14831	GRM7_HUMAN			1	748	+			158			Extracellular (Potential).		Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	37	c.474G>A	CCDS43042.1																																																																																				0.612	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3		NM_000844		17	82	0	0	0	0.038395	0	17	82		
RARB	5915	broad.mit.edu	37	3	25637964	25637964	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:25637964C>G	ENST00000404969.1	+	8	1225	c.1225C>G	c.(1225-1227)Ctc>Gtc	p.L409V	RARB_ENST00000462272.1_3'UTR|RARB_ENST00000330688.4_Missense_Mutation_p.L402V|RARB_ENST00000437042.2_Missense_Mutation_p.L290V|RARB_ENST00000458646.1_Missense_Mutation_p.L290V			P10826	RARB_HUMAN	retinoic acid receptor, beta	409	Ligand-binding.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AATGCCACCTCTCATTCAAGA	0.433																																						uc011awl.1		NaN																	0				ovary(1)|large_intestine(1)|pancreas(1)	3						c.(1225-1227)CTC>GTC		retinoic acid receptor, beta isoform 2	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)						132.0	130.0	131.0					3																	25637964		2203	4300	6503	SO:0001583	missense	5915				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr3:25637964C>G	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.1225C>G	3.37:g.25637964C>G	ENSP00000385865:p.Leu409Val					RARB_uc003cdi.1_Missense_Mutation_p.L290V|RARB_uc003cdh.2_Missense_Mutation_p.L402V	p.L409V	NM_016152	NP_057236	P10826	RARB_HUMAN			8	1291	+			409			Ligand-binding.		P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	ENST00000404969.1	37	c.1225C>G		.	.	.	.	.	.	.	.	.	.	C	18.48	3.633480	0.67015	.	.	ENSG00000077092	ENST00000404969;ENST00000437042;ENST00000330688;ENST00000458646	T;T;T;T	0.60299	0.2;0.2;0.2;0.2	5.9	5.9	0.94986	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.76118	0.3943	M	0.78049	2.395	0.80722	D	1	P;P	0.52170	0.951;0.951	P;P	0.60541	0.876;0.876	T	0.74542	-0.3631	9	.	.	.	.	20.27	0.98469	0.0:1.0:0.0:0.0	.	409;402	P10826;F1D8S6	RARB_HUMAN;.	V	409;290;402;290	ENSP00000385865:L409V;ENSP00000398840:L290V;ENSP00000332296:L402V;ENSP00000391391:L290V	.	L	+	1	0	RARB	25612968	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.798000	0.85924	2.804000	0.96469	0.655000	0.94253	CTC		0.433	RARB-201	KNOWN	basic	protein_coding	protein_coding			NM_000965, NM_016152		41	137	0	0	0	0.11126	0	41	137		
ZCWPW2	152098	broad.mit.edu	37	3	28562491	28562491	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:28562491G>A	ENST00000383768.2	+	9	981	c.793G>A	c.(793-795)Gag>Aag	p.E265K	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.E265K			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	265							zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						AGTTGTCTGTGAGACGGAAGT	0.373																																						uc003ceh.2		NaN																	0				ovary(2)	2						c.(793-795)GAG>AAG		zinc finger, CW type with PWWP domain 2							90.0	87.0	88.0					3																	28562491		2203	4300	6503	SO:0001583	missense	152098						zinc ion binding	g.chr3:28562491G>A	BC065764	CCDS33723.1	3p23	2005-08-22			ENSG00000206559	ENSG00000206559			23574	protein-coding gene	gene with protein product						14607086	Standard	XM_005264892		Approved	ZCW2	uc003cei.3	Q504Y3	OTTHUMG00000155705	ENST00000383768.2:c.793G>A	3.37:g.28562491G>A	ENSP00000373278:p.Glu265Lys					ZCWPW2_uc003cei.2_Missense_Mutation_p.E265K|ZCWPW2_uc010hfo.2_Missense_Mutation_p.E70K	p.E265K	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN			9	961	+			265						Missense_Mutation	SNP	ENST00000383768.2	37	c.793G>A	CCDS33723.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.448867	0.63178	.	.	ENSG00000206559	ENST00000383768;ENST00000421010	T;T	0.44083	0.93;0.93	5.54	5.54	0.83059	.	0.000000	0.56097	D	0.000025	T	0.52240	0.1722	L	0.34521	1.04	0.34424	D	0.697812	D	0.76494	0.999	D	0.78314	0.991	T	0.58148	-0.7687	10	0.30854	T	0.27	-17.2712	14.9717	0.71238	0.0:0.0:1.0:0.0	.	265	Q504Y3	ZCPW2_HUMAN	K	265	ENSP00000373278:E265K;ENSP00000412386:E265K	ENSP00000373278:E265K	E	+	1	0	ZCWPW2	28537495	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	2.592000	0.46171	2.596000	0.87737	0.655000	0.94253	GAG		0.373	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341318.1		XM_087384		12	40	0	0	0	0.080935	0	12	40		
ZNF445	353274	broad.mit.edu	37	3	44491019	44491019	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:44491019A>G	ENST00000396077.2	-	7	1264	c.917T>C	c.(916-918)gTt>gCt	p.V306A	ZNF445_ENST00000425708.2_Missense_Mutation_p.V306A	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	306					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AGGAGCAGCAACTGGATTCCC	0.522																																						uc003cnf.2		NaN																	0				ovary(1)	1						c.(916-918)GTT>GCT		zinc finger protein 445							103.0	93.0	96.0					3																	44491019		2203	4300	6503	SO:0001583	missense	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44491019A>G	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.917T>C	3.37:g.44491019A>G	ENSP00000379387:p.Val306Ala					ZNF445_uc011azv.1_Missense_Mutation_p.V294A|ZNF445_uc011azw.1_Missense_Mutation_p.V306A	p.V306A	NM_181489	NP_852466	P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	7	1265	-			306					Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	c.917T>C	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	A	0.015	-1.562332	0.00903	.	.	ENSG00000185219	ENST00000425708;ENST00000396077;ENST00000340674	T;T	0.05447	3.44;3.44	3.84	-2.47	0.06442	.	0.898095	0.09346	N	0.814821	T	0.02119	0.0066	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.45440	-0.9261	10	0.06236	T	0.91	.	1.7243	0.02918	0.1425:0.3832:0.2793:0.1949	.	294;306	B7ZKX2;P59923	.;ZN445_HUMAN	A	306;306;299	ENSP00000413073:V306A;ENSP00000379387:V306A	ENSP00000342436:V299A	V	-	2	0	ZNF445	44466023	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.810000	0.04505	-0.511000	0.06514	-0.355000	0.07637	GTT		0.522	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2		NM_181489		29	41	0	0	0	0.030593	0	29	41		
ZNF660	285349	broad.mit.edu	37	3	44636003	44636003	+	Nonsense_Mutation	SNP	T	T	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:44636003T>G	ENST00000322734.2	+	3	651	c.318T>G	c.(316-318)taT>taG	p.Y106*	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	106					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TGAAGCCCTATACATGCAGTG	0.443																																						uc003cnl.1		NaN																	0					0						c.(316-318)TAT>TAG		zinc finger protein 660							69.0	75.0	73.0					3																	44636003		2203	4300	6503	SO:0001587	stop_gained	285349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44636003T>G	AK094189	CCDS2716.1	3p21.32	2013-01-08			ENSG00000144792	ENSG00000144792		"""Zinc fingers, C2H2-type"""	26720	protein-coding gene	gene with protein product							Standard	NM_173658		Approved	FLJ36870	uc003cnl.1	Q6AZW8	OTTHUMG00000133097	ENST00000322734.2:c.318T>G	3.37:g.44636003T>G	ENSP00000324605:p.Tyr106*						p.Y106*	NM_173658	NP_775929	Q6AZW8	ZN660_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	3	651	+			106			C2H2-type 3.		Q7Z331|Q8N9M8	Nonsense_Mutation	SNP	ENST00000322734.2	37	c.318T>G	CCDS2716.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.820611	0.90873	.	.	ENSG00000144792	ENST00000322734	.	.	.	4.45	1.63	0.23807	.	.	.	.	.	.	.	.	.	.	.	0.45899	D	0.998742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2964	0.26395	0.0:0.6087:0.0:0.3913	.	.	.	.	X	106	.	.	Y	+	3	2	ZNF660	44611007	0.000000	0.05858	0.853000	0.33588	0.981000	0.71138	-0.892000	0.04131	0.595000	0.29777	-0.248000	0.11899	TAT		0.443	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256756.4		NM_173658		4	110	0	0	0	0.009096	0	4	110		
PROS1	5627	broad.mit.edu	37	3	93611935	93611935	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:93611935C>T	ENST00000394236.3	-	10	1313	c.997G>A	c.(997-999)Gat>Aat	p.D333N	PROS1_ENST00000407433.1_Missense_Mutation_p.D202N	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	333	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CCTTCTGAATCATATGTCCGG	0.383																																						uc003drb.3		NaN																	0				large_intestine(1)	1	GRCh37	CM011466	PROS1	M		c.(997-999)GAT>AAT		protein S, alpha preproprotein	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						59.0	56.0	57.0					3																	93611935		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93611935C>T		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.997G>A	3.37:g.93611935C>T	ENSP00000377783:p.Asp333Asn					PROS1_uc010hoo.2_Missense_Mutation_p.D202N|PROS1_uc003dqz.3_Missense_Mutation_p.D202N	p.D333N	NM_000313	NP_000304	P07225	PROS_HUMAN			10	1338	-			333			Laminin G-like 1.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.997G>A	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329070	0.81690	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.79352	-1.26;-1.26	4.47	4.47	0.54385	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.88104	0.6347	M	0.79343	2.45	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89849	0.4008	10	0.72032	D	0.01	.	17.3232	0.87241	0.0:1.0:0.0:0.0	.	333	P07225	PROS_HUMAN	N	333;202	ENSP00000377783:D333N;ENSP00000385794:D202N	ENSP00000377783:D333N	D	-	1	0	PROS1	95094625	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	7.110000	0.77069	2.327000	0.79052	0.585000	0.79938	GAT		0.383	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1		NM_000313		5	34	0	0	0	0.014758	0	5	34		
ZIC1	7545	broad.mit.edu	37	3	147128662	147128662	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:147128662C>A	ENST00000282928.4	+	1	1492	c.763C>A	c.(763-765)Cac>Aac	p.H255N		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	255					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCTAGTTACGCACGTCACCGT	0.557																																						uc003ewe.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(763-765)CAC>AAC		zinc finger protein of the cerebellum 1							103.0	96.0	98.0					3																	147128662		2203	4300	6503	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128662C>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.763C>A	3.37:g.147128662C>A	ENSP00000282928:p.His255Asn						p.H255N	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	1482	+			255			C2H2-type 1; atypical.		Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.763C>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123549	0.77436	.	.	ENSG00000152977	ENST00000282928	D	0.92397	-3.03	4.01	4.01	0.46588	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	D	0.96781	0.8949	M	0.91510	3.215	0.80722	D	1	D	0.63880	0.993	D	0.91635	0.999	D	0.98016	1.0368	10	0.87932	D	0	.	16.467	0.84081	0.0:1.0:0.0:0.0	.	255	Q15915	ZIC1_HUMAN	N	255	ENSP00000282928:H255N	ENSP00000282928:H255N	H	+	1	0	ZIC1	148611352	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.586000	0.82596	1.930000	0.55929	0.561000	0.74099	CAC		0.557	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1		NM_003412		67	107	1	0	1.08241e-25	0.048971	1.23274e-25	67	107		
SHOX2	6474	broad.mit.edu	37	3	157815938	157815938	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:157815938C>T	ENST00000425436.3	-	5	899	c.874G>A	c.(874-876)Gat>Aat	p.D292N	SHOX2_ENST00000389589.4_Missense_Mutation_p.D316N|SHOX2_ENST00000441443.2_Missense_Mutation_p.D151N|SHOX2_ENST00000490689.2_Missense_Mutation_p.D151N|SHOX2_ENST00000483851.2_Missense_Mutation_p.D280N	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	292					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)			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)			GAAGCCGAATCCGCGGCCAGC	0.672																																						uc003fbr.2		NaN																	0					0						c.(874-876)GAT>AAT		short stature homeobox 2 isoform a							78.0	95.0	89.0					3																	157815938		2203	4298	6501	SO:0001583	missense	6474				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:157815938C>T	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.874G>A	3.37:g.157815938C>T	ENSP00000398704:p.Asp292Asn					SHOX2_uc003fbs.2_Missense_Mutation_p.D316N|SHOX2_uc010hvw.2_Missense_Mutation_p.D280N	p.D292N	NM_006884	NP_006875	O60902	SHOX2_HUMAN	Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)		5	1013	-			292					O60465|O60467|O60903	Missense_Mutation	SNP	ENST00000425436.3	37	c.874G>A	CCDS43164.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621837	0.66787	.	.	ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000258518	ENST00000425436;ENST00000490689;ENST00000389589;ENST00000313019;ENST00000441443;ENST00000483851	D;D;D;D;D	0.93366	-2.92;-3.21;-3.03;-3.21;-3.1	4.96	4.96	0.65561	.	0.071810	0.52532	D	0.000078	D	0.86772	0.6013	N	0.08118	0	0.52099	D	0.999941	P;P;P	0.44139	0.72;0.827;0.598	B;B;B	0.43386	0.263;0.418;0.135	D	0.85959	0.1469	10	0.18710	T	0.47	.	17.3102	0.87207	0.0:1.0:0.0:0.0	.	280;316;292	O60902-2;O60902-3;O60902	.;.;SHOX2_HUMAN	N	316;151;292;151;151;280	ENSP00000398704:D316N;ENSP00000451888:D151N;ENSP00000374240:D292N;ENSP00000397099:D151N;ENSP00000419362:D280N	ENSP00000327294:D151N	D	-	1	0	SHOX2;AC112502.1	159298632	0.999000	0.42202	0.995000	0.50966	0.933000	0.57130	4.497000	0.60367	2.443000	0.82685	0.655000	0.94253	GAT		0.672	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2				70	428	0	0	0	0.048971	0	70	428		
ATP13A4	84239	broad.mit.edu	37	3	193166040	193166040	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:193166040A>C	ENST00000342695.4	-	18	2429	c.2107T>G	c.(2107-2109)Ttg>Gtg	p.L703V	ATP13A4_ENST00000392443.3_Missense_Mutation_p.L684V	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	703						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AGCTCTTCCAAGACAGGTTTT	0.398																																						uc003ftd.2		NaN																	0				ovary(2)	2						c.(2107-2109)TTG>GTG		ATPase type 13A4							138.0	129.0	132.0					3																	193166040		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193166040A>C	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2107T>G	3.37:g.193166040A>C	ENSP00000339182:p.Leu703Val					ATP13A4_uc003fte.1_Missense_Mutation_p.L703V|ATP13A4_uc011bsr.1_Missense_Mutation_p.L174V|ATP13A4_uc010hzi.2_RNA	p.L703V	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	18	2215	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		703			Extracellular (Potential).		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.2107T>G	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	A	18.27	3.586262	0.66105	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	T;T	0.73575	-0.76;-0.76	4.84	2.75	0.32379	HAD-like domain (2);	0.000000	0.51477	D	0.000083	T	0.74627	0.3741	L	0.35249	1.045	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.994	D;D;D	0.71414	0.973;0.956;0.955	T	0.73805	-0.3867	10	0.72032	D	0.01	-31.2655	5.8533	0.18707	0.5647:0.0:0.4353:0.0	.	684;703;703	B7WPN9;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	V	684;703	ENSP00000376238:L684V;ENSP00000339182:L703V	ENSP00000339182:L703V	L	-	1	2	ATP13A4	194648734	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	3.503000	0.53340	0.947000	0.37659	0.528000	0.53228	TTG		0.398	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4		NM_032279		15	72	0	0	0	0.0333	0	15	72		
GRXCR1	389207	broad.mit.edu	37	4	42895368	42895368	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:42895368C>T	ENST00000399770.2	+	1	85	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	29					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TGGGCGAGTTCTGAAGGAAGT	0.522																																						uc003gwt.2		NaN																	0				ovary(1)	1						c.(85-87)CTG>TTG		glutaredoxin, cysteine rich 1							144.0	149.0	148.0					4																	42895368		2013	4176	6189	SO:0001819	synonymous_variant	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:42895368C>T		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.85C>T	4.37:g.42895368C>T							p.L29L	NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN			1	85	+			29						Silent	SNP	ENST00000399770.2	37	c.85C>T	CCDS43225.1																																																																																				0.522	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1		NM_001080476		37	74	0	0	0	0.059317	0	37	74		
WDFY3	23001	broad.mit.edu	37	4	85634393	85634393	+	Splice_Site	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:85634393C>T	ENST00000295888.4	-	51	8369		c.e51-1		WDFY3_ENST00000322366.6_Splice_Site	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3						aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGCCAAAAACCTGAAAAATTT	0.423																																						uc003hpd.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.e51-1		WD repeat and FYVE domain containing 3 isoform							117.0	118.0	117.0					4																	85634393		2203	4300	6503	SO:0001630	splice_region_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85634393C>T	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.7962-1G>A	4.37:g.85634393C>T						WDFY3_uc003hpe.1_Splice_Site_p.R265_splice	p.R2654_splice	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	51	8370	-		Hepatocellular(203;0.114)						Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Splice_Site	SNP	ENST00000295888.4	37	c.7962_splice	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193931	0.78902	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0965	0.97849	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDFY3	85853417	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	7.265000	0.78442	2.824000	0.97209	0.655000	0.94253	.		0.423	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2		NM_014991	Intron	30	99	0	0	0	0.034045	0	30	99		
FAT4	79633	broad.mit.edu	37	4	126370861	126370861	+	Missense_Mutation	SNP	C	C	G	rs549110859		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:126370861C>G	ENST00000394329.3	+	9	8703	c.8690C>G	c.(8689-8691)aCa>aGa	p.T2897R	FAT4_ENST00000335110.5_Missense_Mutation_p.T1195R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2897	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTATTTGCAACAGATCCTGAT	0.363																																						uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(8689-8691)ACA>AGA		FAT tumor suppressor homolog 4 precursor							88.0	91.0	90.0					4																	126370861		2203	4299	6502	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126370861C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.8690C>G	4.37:g.126370861C>G	ENSP00000377862:p.Thr2897Arg					FAT4_uc011cgp.1_Missense_Mutation_p.T1195R|FAT4_uc003ifi.1_Missense_Mutation_p.T375R	p.T2897R	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			9	8690	+			2897			Cadherin 28.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.8690C>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	10.25	1.299105	0.23650	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.02498	4.27;4.27	5.51	3.76	0.43208	Cadherin (4);Cadherin-like (1);	0.219310	0.21631	U	0.071497	T	0.12092	0.0294	L	0.53729	1.69	0.26674	N	0.971679	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.996;0.999	T	0.02676	-1.1125	10	0.49607	T	0.09	.	16.3673	0.83338	0.0:0.7533:0.2467:0.0	.	1195;2897;2897	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	R	2897;1195	ENSP00000377862:T2897R;ENSP00000335169:T1195R	ENSP00000335169:T1195R	T	+	2	0	FAT4	126590311	0.709000	0.27886	0.002000	0.10522	0.352000	0.29268	3.179000	0.50887	0.782000	0.33613	-0.951000	0.02657	ACA		0.363	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		5	89	0	0	0	0.014758	0	5	89		
DCLK2	166614	broad.mit.edu	37	4	151168844	151168844	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:151168844C>T	ENST00000296550.7	+	13	2622	c.1868C>T	c.(1867-1869)tCt>tTt	p.S623F	DCLK2_ENST00000302176.8_Missense_Mutation_p.S640F|DCLK2_ENST00000506325.1_Missense_Mutation_p.S622F	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	623	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ATCACGGACTCTGCCAAGGTA	0.542																																					GBM(195;186 2215 13375 16801 37459)	uc003ilm.3		NaN																	0				ovary(3)	3						c.(1867-1869)TCT>TTT		doublecortin-like kinase 2 isoform a							65.0	67.0	66.0					4																	151168844		2203	4300	6503	SO:0001583	missense	166614				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	g.chr4:151168844C>T	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1868C>T	4.37:g.151168844C>T	ENSP00000296550:p.Ser623Phe					DCLK2_uc003iln.3_Missense_Mutation_p.S622F|DCLK2_uc003ilo.3_Missense_Mutation_p.S640F|DCLK2_uc003ilp.3_RNA	p.S623F	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN			13	1968	+	all_hematologic(180;0.151)		623			Protein kinase.		C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	ENST00000296550.7	37	c.1868C>T	CCDS34076.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751366	0.89753	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	T;T;T	0.67171	-0.25;-0.25;-0.25	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80999	0.4732	L	0.58354	1.805	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.988	D;D;D	0.75020	0.956;0.985;0.961	T	0.80327	-0.1429	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	640;622;623	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	F	623;622;640	ENSP00000296550:S623F;ENSP00000427235:S622F;ENSP00000303887:S640F	ENSP00000296550:S623F	S	+	2	0	DCLK2	151388294	1.000000	0.71417	0.979000	0.43373	0.993000	0.82548	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	TCT		0.542	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1		NM_001040260		9	14	0	0	0	0.058154	0	9	14		
PRSS48	345062	broad.mit.edu	37	4	152203350	152203350	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:152203350G>A	ENST00000455694.2	+	3	268	c.266G>A	c.(265-267)gGt>gAt	p.G89D	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	89	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						ATTACAGTAGGTGACTCAAGG	0.478																																						uc011cif.1		NaN																	0				large_intestine(1)	1						c.(265-267)GGT>GAT		epidermis-specific serine protease-like protein							286.0	267.0	273.0					4																	152203350		2009	4179	6188	SO:0001583	missense	345062				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr4:152203350G>A	BN000134	CCDS47145.1	4q31.3	2010-05-07			ENSG00000189099	ENSG00000189099		"""Serine peptidases / Serine peptidases"""	24635	protein-coding gene	gene with protein product						12838346	Standard	NM_183375		Approved	ESSPL	uc011cif.2	Q7RTY5	OTTHUMG00000161673	ENST00000455694.2:c.266G>A	4.37:g.152203350G>A	ENSP00000401328:p.Gly89Asp					PRSS48_uc011cig.1_Intron	p.G89D	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN			3	266	+			89			Peptidase S1.		Q08E82|Q0VAD4	Missense_Mutation	SNP	ENST00000455694.2	37	c.266G>A	CCDS47145.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.604|0.604	-0.827945|-0.827945	0.02734|0.02734	.|.	.|.	ENSG00000189099|ENSG00000189099	ENST00000455694|ENST00000530477	D|.	0.88509|.	-2.39|.	3.77|3.77	-6.65|-6.65	0.01795|0.01795	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	1.576190|.	0.04279|.	N|.	0.343459|.	T|T	0.28699|0.28699	0.0711|0.0711	N|N	0.17838|0.17838	0.53|0.53	0.09310|0.09310	N|N	1|1	B|.	0.09022|.	0.002|.	B|.	0.08055|.	0.003|.	T|T	0.25152|0.25152	-1.0140|-1.0140	10|5	0.19590|.	T|.	0.45|.	.|.	15.8213|15.8213	0.78648|0.78648	0.8247:0.0:0.1753:0.0|0.8247:0.0:0.1753:0.0	.|.	89|.	Q7RTY5|.	PRS48_HUMAN|.	D|M	89|72	ENSP00000401328:G89D|.	ENSP00000401328:G89D|.	G|V	+|+	2|1	0|0	PRSS48|PRSS48	152422800|152422800	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.068000|0.068000	0.16541|0.16541	-1.512000|-1.512000	0.02258|0.02258	-1.946000|-1.946000	0.01035|0.01035	0.467000|0.467000	0.42956|0.42956	GGT|GTG		0.478	PRSS48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365685.3		NM_183375		13	168	0	0	0	0.105934	0	13	168		
MSMO1	6307	broad.mit.edu	37	4	166254772	166254772	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:166254772C>G	ENST00000261507.6	+	2	423	c.250C>G	c.(250-252)Caa>Gaa	p.Q84E	MSMO1_ENST00000393766.2_Intron|MSMO1_ENST00000504317.1_Missense_Mutation_p.Q84E	NM_006745.4	NP_006736.1	Q15800	MSMO1_HUMAN	methylsterol monooxygenase 1	84					cholesterol biosynthetic process (GO:0006695)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-4 methylsterol oxidase activity (GO:0000254)|iron ion binding (GO:0005506)										ATACAAAATTCAAAAGGTGAG	0.294																																						uc003ire.2		NaN																	0					0						c.(250-252)CAA>GAA		sterol-C4-methyl oxidase-like isoform 1	NADH(DB00157)						42.0	45.0	44.0					4																	166254772		2184	4287	6471	SO:0001583	missense	6307				cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding	g.chr4:166254772C>G	U93162	CCDS3809.1, CCDS43280.1	4q32-q34	2013-03-04	2011-09-01	2011-09-01	ENSG00000052802	ENSG00000052802	1.14.13.72	"""Fatty acid hydroxylase domain containing"""	10545	protein-coding gene	gene with protein product		607545	"""sterol-C4-methyl oxidase-like"""	SC4MOL		8663358	Standard	NM_006745		Approved	DESP4, ERG25	uc003ire.3	Q15800	OTTHUMG00000161126	ENST00000261507.6:c.250C>G	4.37:g.166254772C>G	ENSP00000261507:p.Gln84Glu					SC4MOL_uc010irb.2_Missense_Mutation_p.Q84E|SC4MOL_uc003irf.2_Intron	p.Q84E	NM_006745	NP_006736	Q15800	ERG25_HUMAN		GBM - Glioblastoma multiforme(119;0.0875)	2	380	+	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	84					A8K8Q3|A8MYF6|D3DP32|Q32Q24	Missense_Mutation	SNP	ENST00000261507.6	37	c.250C>G	CCDS3809.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052419	0.75960	.	.	ENSG00000052802	ENST00000261507;ENST00000507013;ENST00000504317;ENST00000505270	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.58	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.76601	0.4010	H	0.94698	3.57	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.75020	0.95;0.985	D	0.83665	0.0163	10	0.87932	D	0	-10.5592	15.8757	0.79159	0.1359:0.8641:0.0:0.0	.	84;84	D6R952;Q15800	.;MSMO1_HUMAN	E	84	ENSP00000261507:Q84E;ENSP00000425241:Q84E;ENSP00000423633:Q84E;ENSP00000425112:Q84E	ENSP00000261507:Q84E	Q	+	1	0	SC4MOL	166474222	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.962000	0.63687	2.633000	0.89246	0.561000	0.74099	CAA		0.294	MSMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363880.1		NM_006745		8	11	0	0	0	0.038147	0	8	11		
MSMO1	6307	broad.mit.edu	37	4	166263045	166263045	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:166263045C>A	ENST00000261507.6	+	6	1002	c.829C>A	c.(829-831)Cag>Aag	p.Q277K	MSMO1_ENST00000393766.2_Missense_Mutation_p.Q146K	NM_006745.4	NP_006736.1	Q15800	MSMO1_HUMAN	methylsterol monooxygenase 1	277					cholesterol biosynthetic process (GO:0006695)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-4 methylsterol oxidase activity (GO:0000254)|iron ion binding (GO:0005506)										AACAGACTCTCAGTATAATGC	0.363																																						uc003ire.2		NaN																	0					0						c.(829-831)CAG>AAG		sterol-C4-methyl oxidase-like isoform 1	NADH(DB00157)						82.0	83.0	83.0					4																	166263045		2203	4300	6503	SO:0001583	missense	6307				cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding	g.chr4:166263045C>A	U93162	CCDS3809.1, CCDS43280.1	4q32-q34	2013-03-04	2011-09-01	2011-09-01	ENSG00000052802	ENSG00000052802	1.14.13.72	"""Fatty acid hydroxylase domain containing"""	10545	protein-coding gene	gene with protein product		607545	"""sterol-C4-methyl oxidase-like"""	SC4MOL		8663358	Standard	NM_006745		Approved	DESP4, ERG25	uc003ire.3	Q15800	OTTHUMG00000161126	ENST00000261507.6:c.829C>A	4.37:g.166263045C>A	ENSP00000261507:p.Gln277Lys					SC4MOL_uc003irf.2_Missense_Mutation_p.Q146K	p.Q277K	NM_006745	NP_006736	Q15800	ERG25_HUMAN		GBM - Glioblastoma multiforme(119;0.0875)	6	959	+	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	277					A8K8Q3|A8MYF6|D3DP32|Q32Q24	Missense_Mutation	SNP	ENST00000261507.6	37	c.829C>A	CCDS3809.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381454	0.42207	.	.	ENSG00000052802	ENST00000261507;ENST00000393766	T;T	0.75367	0.06;-0.93	6.06	6.06	0.98353	.	0.115278	0.64402	D	0.000011	T	0.66538	0.2799	L	0.39898	1.24	0.80722	D	1	P	0.44734	0.842	B	0.40256	0.324	T	0.64266	-0.6448	10	0.06365	T	0.9	-20.0989	20.6208	0.99490	0.0:1.0:0.0:0.0	.	277	Q15800	MSMO1_HUMAN	K	277;146	ENSP00000261507:Q277K;ENSP00000377361:Q146K	ENSP00000261507:Q277K	Q	+	1	0	SC4MOL	166482495	1.000000	0.71417	0.999000	0.59377	0.122000	0.20287	7.469000	0.80959	2.882000	0.98803	0.655000	0.94253	CAG		0.363	MSMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363880.1		NM_006745		15	17	1	0	6.31663e-08	0.024245	6.66906e-08	15	17		
CFAP97	57587	broad.mit.edu	37	4	186112120	186112120	+	Silent	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:186112120T>C	ENST00000458385.2	-	2	350	c.231A>G	c.(229-231)ccA>ccG	p.P77P	KIAA1430_ENST00000296775.6_Silent_p.P77P|KIAA1430_ENST00000514798.1_Silent_p.P77P	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		77										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		CGGGGTGTTCTGGGGGAAATT	0.348																																						uc003ixf.3		NaN																	0					0						c.(229-231)CCA>CCG		hypothetical protein LOC57587							137.0	123.0	127.0					4																	186112120		1829	4084	5913	SO:0001819	synonymous_variant	57587							g.chr4:186112120T>C																												ENST00000458385.2:c.231A>G	4.37:g.186112120T>C						KIAA1430_uc003ixg.2_Silent_p.P77P	p.P77P	NM_020827	NP_065878	Q9P2B7	K1430_HUMAN		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)	2	378	-		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	77					B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Silent	SNP	ENST00000458385.2	37	c.231A>G	CCDS47168.1																																																																																				0.348	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2				7	13	0	0	0	0.02938	0	7	13		
IL7R	3575	broad.mit.edu	37	5	35874558	35874558	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:35874558G>A	ENST00000303115.3	+	6	843	c.714G>A	c.(712-714)atG>atA	p.M238I	IL7R_ENST00000506850.1_Intron|IL7R_ENST00000343305.4_Intron	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	238					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)	p.E237_L242>ASWC(2)|p.M238_L243>PCK(2)|p.M238I(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CAGGGGAGATGGATCCTATCT	0.448			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															uc003jjs.2		NaN		Dom	yes		5	5p13	146661		interleukin 7 receptor	yes		L					5	Complex - deletion inframe(4)|Substitution - Missense(1)		haematopoietic_and_lymphoid_tissue(4)|endometrium(1)	ovary(3)|breast(1)|skin(1)	5						c.(712-714)ATG>ATA		interleukin 7 receptor precursor							236.0	205.0	215.0					5																	35874558		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35874558G>A	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.714G>A	5.37:g.35874558G>A	ENSP00000306157:p.Met238Ile					IL7R_uc011coo.1_Intron|IL7R_uc011cop.1_Intron	p.M238I	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		6	803	+	all_lung(31;0.00015)		238			Extracellular (Potential).		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.714G>A	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.408848	0.01155	.	.	ENSG00000168685	ENST00000303115	D	0.95788	-3.81	5.97	2.18	0.27775	.	1.651190	0.02503	N	0.090679	D	0.89276	0.6669	N	0.16130	0.375	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.79305	-0.1858	10	0.22109	T	0.4	-16.2377	3.8946	0.09133	0.2562:0.0:0.5755:0.1683	.	238	P16871	IL7RA_HUMAN	I	238	ENSP00000306157:M238I	ENSP00000306157:M238I	M	+	3	0	IL7R	35910315	0.714000	0.27936	0.015000	0.15790	0.007000	0.05969	0.716000	0.25836	0.400000	0.25396	-0.136000	0.14681	ATG		0.448	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2				30	98	0	0	0	0.034045	0	30	98		
NUP155	9631	broad.mit.edu	37	5	37371058	37371058	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:37371058C>T	ENST00000231498.3	-	1	225	c.22G>A	c.(22-24)Gcg>Acg	p.A8T	NUP155_ENST00000381843.2_5'Flank|NUP155_ENST00000513532.1_Missense_Mutation_p.A8T	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	8					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGCATCGCCGCGCCCAACAAA	0.527																																						uc003jku.1		NaN																	0				ovary(1)	1						c.(22-24)GCG>ACG		nucleoporin 155kDa isoform 1							39.0	40.0	40.0					5																	37371058		2203	4300	6503	SO:0001583	missense	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37371058C>T	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.22G>A	5.37:g.37371058C>T	ENSP00000231498:p.Ala8Thr					NUP155_uc003jkt.1_5'Flank|NUP155_uc010iuz.1_Missense_Mutation_p.A8T	p.A8T	NM_153485	NP_705618	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		1	140	-	all_lung(31;0.000137)		8					Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	37	c.22G>A	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.517035	0.27123	.	.	ENSG00000113569	ENST00000231498;ENST00000513532	T;T	0.77229	-1.08;-1.08	4.15	-2.06	0.07298	.	0.490785	0.22504	N	0.059193	T	0.46795	0.1411	N	0.08118	0	0.09310	N	1	B;B	0.22003	0.063;0.0	B;B	0.09377	0.004;0.0	T	0.32295	-0.9912	10	0.15066	T	0.55	.	3.7255	0.08473	0.2095:0.3695:0.3287:0.0923	.	8;8	E9PF10;O75694	.;NU155_HUMAN	T	8	ENSP00000231498:A8T;ENSP00000422019:A8T	ENSP00000231498:A8T	A	-	1	0	NUP155	37406815	0.005000	0.15991	0.015000	0.15790	0.366000	0.29705	-0.146000	0.10250	-0.733000	0.04850	-0.231000	0.12243	GCG		0.527	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2		NM_153485, NM_004298		15	106	0	0	0	0.020292	0	15	106		
GHR	2690	broad.mit.edu	37	5	42689121	42689121	+	Splice_Site	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:42689121G>T	ENST00000230882.4	+	4	456	c.266G>T	c.(265-267)aGg>aTg	p.R89M	GHR_ENST00000357703.3_Splice_Site_p.R67M|GHR_ENST00000537449.1_Intron	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	89			R -> K (in LARS). {ECO:0000269|PubMed:8504296}.		2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TATACCAGAAGGTGCCACCAT	0.453																																						uc003jmt.2		NaN																	0				lung(4)|kidney(1)|skin(1)	6	GRCh37	CM930310	GHR	M		c.(265-267)AGG>ATG		growth hormone receptor precursor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						209.0	199.0	203.0					5																	42689121		2203	4300	6503	SO:0001630	splice_region_variant	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42689121G>T		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.266+1G>T	5.37:g.42689121G>T						GHR_uc011cpq.1_Intron	p.R89M	NM_000163	NP_000154	P10912	GHR_HUMAN			4	309	+		Myeloproliferative disorder(839;0.00878)	89		R -> K (in LARS).	Extracellular (Potential).		Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	c.266G>T	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396421	0.62177	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000356276	D;D	0.96334	-3.98;-3.98	5.66	5.66	0.87406	Fibronectin, type III (1);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.166607	0.64402	D	0.000015	D	0.97306	0.9119	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	P	0.62813	0.907	D	0.97366	0.9973	10	0.87932	D	0	-13.3636	12.6819	0.56926	0.076:0.0:0.924:0.0	.	89	P10912	GHR_HUMAN	M	89;67;89	ENSP00000230882:R89M;ENSP00000350335:R67M	ENSP00000230882:R89M	R	+	2	0	GHR	42724878	1.000000	0.71417	0.998000	0.56505	0.474000	0.32979	4.456000	0.60081	2.657000	0.90304	0.655000	0.94253	AGG		0.453	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2		NM_000163	Missense_Mutation	19	111	1	0	6.49762e-13	0.038395	7.07263e-13	19	111		
ZNF608	57507	broad.mit.edu	37	5	123977030	123977030	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:123977030G>T	ENST00000306315.5	-	7	4800	c.4365C>A	c.(4363-4365)ttC>ttA	p.F1455L	ZNF608_ENST00000513985.1_5'UTR|ZNF608_ENST00000504926.1_Missense_Mutation_p.F1028L	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1455							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCGCTGGCCGAAGGGGGAGT	0.567																																						uc003ktq.1		NaN																	0				skin(3)|ovary(2)|lung(1)	6						c.(4363-4365)TTC>TTA		zinc finger protein 608							159.0	142.0	148.0					5																	123977030		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123977030G>T	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.4365C>A	5.37:g.123977030G>T	ENSP00000307746:p.Phe1455Leu					ZNF608_uc003ktr.1_Intron|ZNF608_uc003ktp.1_Missense_Mutation_p.F150L	p.F1455L	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	7	4488	-		all_cancers(142;0.186)|Prostate(80;0.081)	1455					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.4365C>A	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605826	0.66445	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.43688	0.95;0.94	5.49	0.685	0.18009	.	0.110787	0.64402	D	0.000004	T	0.47893	0.1470	L	0.56769	1.78	0.34298	D	0.684022	D	0.57257	0.979	P	0.55303	0.773	T	0.57335	-0.7829	10	0.32370	T	0.25	-17.7744	11.0662	0.47976	0.5217:0.0:0.4783:0.0	.	1455	Q9ULD9	ZN608_HUMAN	L	1028;1455	ENSP00000427657:F1028L;ENSP00000307746:F1455L	ENSP00000307746:F1455L	F	-	3	2	ZNF608	124004929	0.454000	0.25728	0.527000	0.27925	0.993000	0.82548	0.353000	0.20130	-0.086000	0.12550	0.643000	0.83706	TTC		0.567	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1		XM_114432		46	51	1	0	1.15505e-17	0.11126	1.27992e-17	46	51		
JADE2	23338	broad.mit.edu	37	5	133909338	133909338	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:133909338A>G	ENST00000282605.4	+	10	1524	c.1438A>G	c.(1438-1440)Aga>Gga	p.R480G	PHF15_ENST00000361895.2_Missense_Mutation_p.R480G|PHF15_ENST00000402835.1_Intron|PHF15_ENST00000395003.1_Missense_Mutation_p.R480G														p.R480G(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCTCAGGTTAGAAATCTGTG	0.512																																						uc003kzo.1		NaN																	2	Substitution - Missense(2)		lung(2)		0						c.(1438-1440)AGA>GGA		PHD finger protein 15							120.0	95.0	103.0					5																	133909338		2203	4300	6503	SO:0001583	missense	23338				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133909338A>G																												ENST00000282605.4:c.1438A>G	5.37:g.133909338A>G	ENSP00000282605:p.Arg480Gly					PHF15_uc011cxt.1_Missense_Mutation_p.R480G|PHF15_uc003kzk.2_Missense_Mutation_p.R496G|PHF15_uc003kzl.2_Missense_Mutation_p.R480G|PHF15_uc003kzm.2_Missense_Mutation_p.R480G|PHF15_uc003kzn.2_Intron|PHF15_uc003kzp.2_Missense_Mutation_p.R188G	p.R480G	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		10	1617	+			480						Missense_Mutation	SNP	ENST00000282605.4	37	c.1438A>G		.	.	.	.	.	.	.	.	.	.	A	21.8	4.197263	0.79015	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000395003	T;T;T	0.66280	-0.2;-0.0;-0.0	5.51	5.51	0.81932	.	0.206046	0.48767	D	0.000161	T	0.77778	0.4181	M	0.69185	2.1	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999	D;D;D;D;D	0.87578	0.998;0.99;0.99;0.997;0.99	T	0.80169	-0.1494	10	0.87932	D	0	.	15.794	0.78394	1.0:0.0:0.0:0.0	.	480;480;480;480;496	B4DFY8;Q9NQC1;D3DQA3;Q9NQC1-3;B3KPL2	.;JADE2_HUMAN;.;.;.	G	480;496;480;480;480;480	ENSP00000282605:R480G;ENSP00000354425:R480G;ENSP00000378451:R480G	ENSP00000282605:R480G	R	+	1	2	PHF15	133937237	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.626000	0.54245	2.317000	0.78254	0.459000	0.35465	AGA		0.512	PHF15-003	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251170.1				36	12	0	0	0	0.059317	0	36	12		
PCDHA9	9752	broad.mit.edu	37	5	140229572	140229572	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:140229572C>T	ENST00000532602.1	+	1	2525	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W	PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.R498W|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	498	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGAGCGGCGGTTGGGCGA	0.672																																					Melanoma(55;1800 1972 14909)	uc003lhu.2		NaN																	0				large_intestine(2)|ovary(2)|skin(1)	5						c.(1492-1494)CGG>TGG		protocadherin alpha 9 isoform 1 precursor							57.0	64.0	61.0					5																	140229572		2196	4267	6463	SO:0001583	missense	9752				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140229572C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1492C>T	5.37:g.140229572C>T	ENSP00000436042:p.Arg498Trp					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.R498W	p.R498W	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2216	+			498			Cadherin 5.|Extracellular (Potential).		O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1492C>T	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	8.533	0.871478	0.17322	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.52526	0.66;0.66	3.56	1.64	0.23874	Cadherin (4);Cadherin-like (1);	0.318244	0.16978	U	0.191838	T	0.53802	0.1819	L	0.41236	1.265	0.22156	N	0.999322	P;D	0.89917	0.488;1.0	B;D	0.91635	0.082;0.999	T	0.38308	-0.9667	10	0.87932	D	0	.	6.2752	0.20977	0.5797:0.3233:0.0:0.097	.	498;498	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	W	498	ENSP00000436042:R498W;ENSP00000367362:R498W	ENSP00000367362:R498W	R	+	1	2	PCDHA9	140209756	0.005000	0.15991	0.997000	0.53966	0.386000	0.30323	0.469000	0.22067	0.253000	0.21552	-1.231000	0.01572	CGG		0.672	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2		NM_031857		72	77	0	0	0	0.048971	0	72	77		
GLRA1	2741	broad.mit.edu	37	5	151202511	151202511	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:151202511C>G	ENST00000455880.2	-	9	1383	c.1097G>C	c.(1096-1098)gGa>gCa	p.G366A	GLRA1_ENST00000274576.4_Missense_Mutation_p.G358A|GLRA1_ENST00000545569.1_Missense_Mutation_p.G275A			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	366					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCGGCCTTCTCCAGCTTCATC	0.562																																						uc003lut.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1096-1098)GGA>GCA		glycine receptor, alpha 1 isoform 1 precursor	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						54.0	52.0	53.0					5																	151202511		2203	4300	6503	SO:0001583	missense	2741				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	g.chr5:151202511C>G		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"""Ligand-gated ion channels / Glycine receptors"""	4326	protein-coding gene	gene with protein product	"""startle disease/hyperekplexia"", ""stiff person syndrome"""	138491	"""glycine receptor, alpha 1 (startle disease/hyperekplexia)"""	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.1097G>C	5.37:g.151202511C>G	ENSP00000411593:p.Gly366Ala					GLRA1_uc003lur.2_Missense_Mutation_p.G358A|GLRA1_uc003lus.2_Missense_Mutation_p.G275A	p.G366A	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		9	1384	-		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	366			Cytoplasmic (Probable).		B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	c.1097G>C	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	C	9.768	1.171800	0.21704	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	D;D;D	0.85411	-1.98;-1.78;-1.98	4.9	4.9	0.64082	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.74473	0.3721	N	0.14661	0.345	0.58432	D	0.999992	B;B;B	0.22604	0.04;0.072;0.032	B;B;B	0.29524	0.103;0.103;0.048	T	0.69371	-0.5163	10	0.06757	T	0.87	.	18.0786	0.89436	0.0:1.0:0.0:0.0	.	366;275;358	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	A	358;366;275	ENSP00000274576:G358A;ENSP00000411593:G366A;ENSP00000445913:G275A	ENSP00000274576:G358A	G	-	2	0	GLRA1	151182704	0.981000	0.34729	0.980000	0.43619	0.971000	0.66376	4.694000	0.61760	2.243000	0.73865	0.467000	0.42956	GGA		0.562	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1				11	16	0	0	0	0.080935	0	11	16		
CREBRF	153222	broad.mit.edu	37	5	172517872	172517872	+	Silent	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:172517872A>G	ENST00000296953.2	+	4	1009	c.690A>G	c.(688-690)gaA>gaG	p.E230E	CREBRF_ENST00000520420.1_Silent_p.E230E|CREBRF_ENST00000540014.1_Silent_p.E230E|CREBRF_ENST00000522692.1_Silent_p.E230E	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	230					negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TTCATGTTGAATGTAAAGACT	0.413																																						uc003mch.2		NaN																	0					0						c.(688-690)GAA>GAG		luman-recruiting factor							72.0	72.0	72.0					5																	172517872		2203	4300	6503	SO:0001819	synonymous_variant	153222						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:172517872A>G	AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"""luman/CREB3 recruitment factor"""		"""chromosome 5 open reading frame 41"""	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.690A>G	5.37:g.172517872A>G						C5orf41_uc003mcg.2_Silent_p.E230E|C5orf41_uc003mcf.2_Silent_p.E230E|C5orf41_uc011dfd.1_Silent_p.E230E	p.E230E	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	994	+	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	230					B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Silent	SNP	ENST00000296953.2	37	c.690A>G	CCDS34293.1																																																																																				0.413	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372667.1		NM_153607		31	13	0	0	0	0.034045	0	31	13		
SLC22A23	63027	broad.mit.edu	37	6	3273582	3273582	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr6:3273582C>T	ENST00000406686.3	-	10	1767	c.1768G>A	c.(1768-1770)Gag>Aag	p.E590K	SLC22A23_ENST00000436008.2_Missense_Mutation_p.E598K|SLC22A23_ENST00000490273.1_Missense_Mutation_p.E309K|SLC22A23_ENST00000380302.4_Missense_Mutation_p.E309K|PSMG4_ENST00000451246.2_Intron	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	590					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				ttgtgcagctcgatGATGGGT	0.627																																						uc003mvm.3		NaN																	0				ovary(1)	1						c.(1768-1770)GAG>AAG		solute carrier family 22, member 23 isoform a							107.0	75.0	86.0					6																	3273582		2203	4300	6503	SO:0001583	missense	63027				ion transport	integral to membrane	transmembrane transporter activity	g.chr6:3273582C>T	AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"""Solute carriers"""	21106	protein-coding gene	gene with protein product		611697	"""chromosome 6 open reading frame 85"""	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.1768G>A	6.37:g.3273582C>T	ENSP00000385028:p.Glu590Lys					uc003mvi.1_Intron|SLC22A23_uc003mvn.3_Missense_Mutation_p.E309K|SLC22A23_uc003mvo.3_Missense_Mutation_p.E309K|SLC22A23_uc003mvp.1_RNA	p.E590K	NM_015482	NP_056297	A1A5C7	S22AN_HUMAN			10	1768	-	Ovarian(93;0.0493)	all_hematologic(90;0.0905)	590					A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Missense_Mutation	SNP	ENST00000406686.3	37	c.1768G>A	CCDS47363.1	.	.	.	.	.	.	.	.	.	.	C	34	5.406649	0.96051	.	.	ENSG00000137266	ENST00000436008;ENST00000406686;ENST00000380302;ENST00000490273	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.47	5.47	0.80525	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.148395	0.64402	D	0.000012	T	0.42200	0.1192	L	0.39898	1.24	0.80722	D	1	D	0.55385	0.971	P	0.48770	0.589	T	0.34850	-0.9812	10	0.07644	T	0.81	-27.9676	18.6894	0.91577	0.0:1.0:0.0:0.0	.	590	A1A5C7	S22AN_HUMAN	K	598;590;309;309	ENSP00000410245:E598K;ENSP00000385028:E590K;ENSP00000369657:E309K;ENSP00000419463:E309K	ENSP00000369657:E309K	E	-	1	0	SLC22A23	3218581	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.314000	0.78988	2.724000	0.93272	0.561000	0.74099	GAG		0.627	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353059.1		NM_021945		6	112	0	0	0	0.021553	0	6	112		
C6orf106	64771	broad.mit.edu	37	6	34574587	34574587	+	Silent	SNP	C	C	G	rs376293203		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr6:34574587C>G	ENST00000374023.3	-	4	849	c.606G>C	c.(604-606)ccG>ccC	p.P202P	C6orf106_ENST00000374021.1_Silent_p.P128P|C6orf106_ENST00000374026.3_Silent_p.P136P	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	202										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						CCTTACGATGCGGCTGTGTGT	0.478																																						uc003ojr.2		NaN																	0				skin(2)|ovary(1)	3						c.(604-606)CCG>CCC		chromosome 6 open reading frame 106 isoform a							89.0	79.0	83.0					6																	34574587		2203	4300	6503	SO:0001819	synonymous_variant	64771							g.chr6:34574587C>G	AF052106	CCDS4795.1, CCDS4796.1	6p21.31	2012-01-27			ENSG00000196821	ENSG00000196821			21215	protein-coding gene	gene with protein product		612217					Standard	XM_005249298		Approved	FLJ22195, dJ391O22.4	uc003ojr.2	Q9H6K1	OTTHUMG00000014553	ENST00000374023.3:c.606G>C	6.37:g.34574587C>G						C6orf106_uc003ojs.2_Silent_p.P136P	p.P202P	NM_024294	NP_077270	Q9H6K1	CF106_HUMAN			4	851	-			202					B2R8K7|Q5VV77|Q96MG5|Q9BUR9	Silent	SNP	ENST00000374023.3	37	c.606G>C	CCDS4796.1																																																																																				0.478	C6orf106-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040251.1		NM_022758		4	77	0	0	0	0.009096	0	4	77		
ETV7	51513	broad.mit.edu	37	6	36334426	36334426	+	Missense_Mutation	SNP	G	G	A	rs145392208	byFrequency	TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr6:36334426G>A	ENST00000340181.4	-	8	1263	c.1022C>T	c.(1021-1023)cCg>cTg	p.P341L	ETV7_ENST00000339796.5_Intron|ETV7_ENST00000538992.1_Missense_Mutation_p.P190L|ETV7_ENST00000373737.4_Missense_Mutation_p.P264L|ETV7_ENST00000373738.1_Missense_Mutation_p.P286L	NM_001207037.1|NM_001207040.1|NM_016135.3	NP_001193966.1|NP_001193969.1|NP_057219.1	Q9Y603	ETV7_HUMAN	ets variant 7	341					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						TGCCCCTCACGGAGAGATTTC	0.622																																						uc003omb.2		NaN																	0				ovary(1)|skin(1)	2						c.(1021-1023)CCG>CTG		ets variant 7							128.0	124.0	125.0					6																	36334426		2203	4300	6503	SO:0001583	missense	51513				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:36334426G>A	AF116508	CCDS4819.1, CCDS56422.1, CCDS56423.1, CCDS56424.1, CCDS56425.1, CCDS75440.1, CCDS75441.1	6p21	2008-09-12	2008-09-12		ENSG00000010030	ENSG00000010030			18160	protein-coding gene	gene with protein product	"""TEL2 oncogene"""	605255	"""ets variant gene 7 (TEL2 oncogene)"""			10828014, 11108721	Standard	NM_016135		Approved	TEL2, TEL-2	uc003omb.3	Q9Y603	OTTHUMG00000014594	ENST00000340181.4:c.1022C>T	6.37:g.36334426G>A	ENSP00000341843:p.Pro341Leu					ETV7_uc003olz.1_Intron|ETV7_uc003oma.1_Intron|ETV7_uc010jwg.2_RNA|ETV7_uc003omc.2_Missense_Mutation_p.P286L|ETV7_uc010jwj.2_Missense_Mutation_p.P282L|ETV7_uc010jwh.2_Missense_Mutation_p.P260L|ETV7_uc010jwi.2_Missense_Mutation_p.P264L|ETV7_uc011dtl.1_Missense_Mutation_p.P190L	p.P341L	NM_016135	NP_057219	Q9Y603	ETV7_HUMAN			8	1171	-			341					B3KVC2|B4DVB6|B4E1G4|Q5R3L3|Q5R3L4|Q9NZ65|Q9NZ66|Q9NZ68|Q9NZR8|Q9UNJ7|Q9Y5K4|Q9Y604	Missense_Mutation	SNP	ENST00000340181.4	37	c.1022C>T	CCDS4819.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512060	0.27036	.	.	ENSG00000010030	ENST00000340181;ENST00000373737;ENST00000373738;ENST00000538992	T;T;T;T	0.19250	2.76;2.68;2.37;2.16	4.58	1.62	0.23740	.	0.565992	0.15943	U	0.237089	T	0.15435	0.0372	L	0.32530	0.975	0.09310	N	0.999999	D;D;B;D	0.89917	1.0;1.0;0.054;1.0	D;D;B;D	0.97110	1.0;0.933;0.007;0.985	T	0.05954	-1.0854	10	0.87932	D	0	.	5.4828	0.16733	0.187:0.0:0.6572:0.1558	.	282;264;286;341	Q9Y603-2;Q9Y603-7;Q9Y603-4;Q9Y603	.;.;.;ETV7_HUMAN	L	341;264;286;190	ENSP00000341843:P341L;ENSP00000362842:P264L;ENSP00000362843:P286L;ENSP00000440592:P190L	ENSP00000341843:P341L	P	-	2	0	ETV7	36442404	0.897000	0.30589	0.107000	0.21349	0.033000	0.12548	0.373000	0.20484	0.009000	0.14813	-0.345000	0.07892	CCG		0.622	ETV7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040341.1		NM_016135		36	97	0	0	0	0.069456	0	36	97		
DNAH8	1769	broad.mit.edu	37	6	38723820	38723820	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr6:38723820A>G	ENST00000359357.3	+	8	1083	c.829A>G	c.(829-831)Aat>Gat	p.N277D	DNAH8_ENST00000449981.2_Missense_Mutation_p.N494D|DNAH8_ENST00000441566.1_Missense_Mutation_p.N277D			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	277					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAGGTATTATAATACCTCAGA	0.348																																						uc003ooe.1		NaN																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(829-831)AAT>GAT		dynein, axonemal, heavy polypeptide 8							139.0	140.0	139.0					6																	38723820		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38723820A>G	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.829A>G	6.37:g.38723820A>G	ENSP00000352312:p.Asn277Asp						p.N277D	NM_001371	NP_001362					8	1429	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.829A>G		.	.	.	.	.	.	.	.	.	.	A	24.6	4.550440	0.86127	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.57752	0.38;0.38;0.38	5.6	5.6	0.85130	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.70842	0.3270	M	0.86740	2.835	0.58432	D	0.999998	D	0.69078	0.997	D	0.75484	0.986	T	0.76669	-0.2874	10	0.62326	D	0.03	.	15.0583	0.71933	1.0:0.0:0.0:0.0	.	277	Q96JB1	DYH8_HUMAN	D	482;482;277;277	ENSP00000333363:N482D;ENSP00000352312:N277D;ENSP00000402294:N277D	ENSP00000333363:N482D	N	+	1	0	DNAH8	38831798	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.584000	0.82572	2.254000	0.74563	0.482000	0.46254	AAT		0.348	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1		NM_001206927		18	44	0	0	0	0.055883	0	18	44		
LAMA2	3908	broad.mit.edu	37	6	129649559	129649559	+	Splice_Site	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr6:129649559T>C	ENST00000421865.2	+	29	4360		c.e29+2			NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATATGCCAGGTAGTCCTCTGA	0.532																																						uc003qbn.2		NaN																	0				ovary(8)|breast(1)|skin(1)	10						c.e29+2		laminin alpha 2 subunit isoform a precursor							149.0	120.0	130.0					6																	129649559		2203	4300	6503	SO:0001630	splice_region_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129649559T>C	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4311+2T>C	6.37:g.129649559T>C						LAMA2_uc003qbo.2_Splice_Site_p.Q1437_splice	p.Q1437_splice	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	29	4416	+								Q14736|Q5VUM2|Q93022	Splice_Site	SNP	ENST00000421865.2	37	c.4311_splice	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	T	19.92	3.916720	0.73098	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9742	0.71257	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAMA2	129691252	1.000000	0.71417	0.972000	0.41901	0.853000	0.48598	5.004000	0.63966	1.937000	0.56155	0.383000	0.25322	.		0.532	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			Intron	4	67	0	0	0	0.014758	0	4	67		
NMBR	4829	broad.mit.edu	37	6	142409489	142409489	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr6:142409489G>A	ENST00000258042.1	-	1	447	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	103					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		AAGAAGTAGCGCGAGGCGTCC	0.602																																						uc003qiu.2		NaN																	0				central_nervous_system(3)|breast(1)	4						c.(307-309)CGC>TGC		neuromedin B receptor							74.0	62.0	66.0					6																	142409489		2203	4300	6503	SO:0001583	missense	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142409489G>A		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"""GPCR / Class A : Bombesin receptors"""	7843	protein-coding gene	gene with protein product	"""bombesin receptor 1"""	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.307C>T	6.37:g.142409489G>A	ENSP00000258042:p.Arg103Cys						p.R103C	NM_002511	NP_002502	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	1	448	-	Breast(32;0.155)		103			Extracellular (Potential).		E9KL38|Q5VUK8	Missense_Mutation	SNP	ENST00000258042.1	37	c.307C>T	CCDS5196.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391603	0.83011	.	.	ENSG00000135577	ENST00000258042	T	0.20069	2.1	5.6	5.6	0.85130	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.22205	0.0535	M	0.80746	2.51	0.80722	D	1	P	0.42785	0.79	B	0.39590	0.304	T	0.06006	-1.0851	10	0.40728	T	0.16	-22.008	19.9801	0.97322	0.0:0.0:1.0:0.0	.	103	P28336	NMBR_HUMAN	C	103	ENSP00000258042:R103C	ENSP00000258042:R103C	R	-	1	0	NMBR	142451182	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.049000	0.57397	2.808000	0.96608	0.650000	0.86243	CGC		0.602	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1				75	13	0	0	0	0.048971	0	75	13		
SYNE1	23345	broad.mit.edu	37	6	152651705	152651705	+	Silent	SNP	G	G	A	rs377739292		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr6:152651705G>A	ENST00000367255.5	-	78	14716	c.14115C>T	c.(14113-14115)gcC>gcT	p.A4705A	SYNE1_ENST00000341594.5_Silent_p.A4452A|SYNE1_ENST00000265368.4_Silent_p.A4705A|SYNE1_ENST00000448038.1_Silent_p.A4634A|SYNE1_ENST00000423061.1_Silent_p.A4634A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4705					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTCCTCAACGGCCAGGTCGG	0.522										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(14113-14115)GCC>GCT		spectrin repeat containing, nuclear envelope 1		G	,	1,4405	6.2+/-15.9	0,1,2202	43.0	48.0	46.0		13902,14115	-11.8	0.0	6		46	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SYNE1	NM_033071.3,NM_182961.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	4634/8750,4705/8798	152651705	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152651705G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14115C>T	6.37:g.152651705G>A		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Silent_p.A4634A|SYNE1_uc003qou.3_Silent_p.A4705A|SYNE1_uc010kiz.2_Silent_p.A460A	p.A4705A	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	14717	-		Ovarian(120;0.0955)	4705			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.14115C>T	CCDS5236.2																																																																																				0.522	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		22	7	0	0	0	0.076483	0	22	7		
EVX1	2128	broad.mit.edu	37	7	27285924	27285924	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:27285924G>A	ENST00000496902.4	+	3	1590	c.1104G>A	c.(1102-1104)tcG>tcA	p.S368S	EVX1_ENST00000222761.3_3'UTR|EVX1_ENST00000535619.1_Silent_p.S186S|EVX1-AS_ENST00000517726.1_RNA|EVX1-AS_ENST00000519218.1_RNA			P49640	EVX1_HUMAN	even-skipped homeobox 1	368	Ala-rich.				embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						CCGCCGCCTCGGACTTCACCT	0.751																																						uc003szd.1		NaN																	0				skin(1)	1						c.(1102-1104)TCG>TCA		even-skipped homeobox 1							6.0	7.0	6.0					7																	27285924		1434	2964	4398	SO:0001819	synonymous_variant	2128					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27285924G>A		CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"""Homeoboxes / ANTP class : HOXL subclass"""	3506	protein-coding gene	gene with protein product		142996	"""eve, even-skipped homeobox homolog 1 (Drosophila)"""			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.1104G>A	7.37:g.27285924G>A						EVX1_uc011jzn.1_Silent_p.S186S|EVX1_uc010kuy.1_3'UTR	p.S368S	NM_001989	NP_001980	P49640	EVX1_HUMAN			3	1590	+			368			Ala-rich.		A4D199|B4DQJ0	Silent	SNP	ENST00000496902.4	37	c.1104G>A	CCDS5413.1																																																																																				0.751	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358750.3				8	5	0	0	0	0.058154	0	8	5		
AVL9	23080	broad.mit.edu	37	7	32598622	32598622	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:32598622G>C	ENST00000318709.4	+	10	982	c.761G>C	c.(760-762)aGt>aCt	p.S254T	AVL9_ENST00000404479.1_Missense_Mutation_p.S254T|AVL9_ENST00000409301.1_Missense_Mutation_p.S254T	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	254					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CTTCAGGAAAGTAACCCATGT	0.423																																						uc003tcv.1		NaN																	0					0						c.(760-762)AGT>ACT		AVL9 homolog (S. cerevisiase)							99.0	96.0	97.0					7																	32598622		2203	4300	6503	SO:0001583	missense	23080					integral to membrane		g.chr7:32598622G>C	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.761G>C	7.37:g.32598622G>C	ENSP00000315568:p.Ser254Thr					AVL9_uc011kai.1_Missense_Mutation_p.S254T|AVL9_uc010kwj.1_Missense_Mutation_p.S95T	p.S254T	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN			10	907	+			254					Q92573	Missense_Mutation	SNP	ENST00000318709.4	37	c.761G>C	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.416034	0.01136	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	T;T;T;T	0.43688	0.99;0.99;0.96;0.94	5.31	-1.01	0.10169	.	0.622249	0.18333	N	0.144414	T	0.14527	0.0351	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.18178	-1.0345	10	0.10111	T	0.7	-0.6933	2.5973	0.04857	0.4255:0.2707:0.2032:0.1006	.	254;254;254	Q8N6Z3;Q8NBF6-2;Q8NBF6	.;.;AVL9_HUMAN	T	254;254;254;254;185	ENSP00000315568:S254T;ENSP00000387011:S254T;ENSP00000385242:S254T;ENSP00000395134:S185T	ENSP00000315568:S254T	S	+	2	0	AVL9	32565147	0.000000	0.05858	0.026000	0.17262	0.224000	0.24922	-0.280000	0.08468	-0.074000	0.12820	-0.948000	0.02665	AGT		0.423	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1		NM_015060		18	46	0	0	0	0.0333	0	18	46		
POU6F2	11281	broad.mit.edu	37	7	39379526	39379526	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:39379526C>T	ENST00000403058.1	+	6	951	c.797C>T	c.(796-798)aCc>aTc	p.T266I	POU6F2_ENST00000559001.1_Missense_Mutation_p.T258I|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000518318.2_Missense_Mutation_p.T266I	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	266	Gln-rich.|Pro-rich.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						ccatctccaacccagcagagc	0.627																																						uc003thb.1		NaN																	0				central_nervous_system(1)	1						c.(796-798)ACC>ATC		POU class 6 homeobox 2 isoform 1							121.0	135.0	130.0					7																	39379526		2203	4300	6503	SO:0001583	missense	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39379526C>T	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.797C>T	7.37:g.39379526C>T	ENSP00000384004:p.Thr266Ile					POU6F2_uc010kxo.2_Missense_Mutation_p.T258I	p.T266I	NM_007252	NP_009183	P78424	PO6F2_HUMAN			5	839	+			266			Pro-rich.|Gln-rich.		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	ENST00000403058.1	37	c.797C>T	CCDS34620.2	.	.	.	.	.	.	.	.	.	.	C	11.67	1.707323	0.30322	.	.	ENSG00000106536	ENST00000403058;ENST00000518318	T;D	0.85773	0.96;-2.03	4.66	3.74	0.42951	.	1.102960	0.07129	U	0.845150	T	0.75072	0.3800	N	0.19112	0.55	0.21719	N	0.999578	B;B	0.24426	0.103;0.003	B;B	0.21546	0.035;0.006	T	0.59663	-0.7412	10	0.22109	T	0.4	.	8.6187	0.33849	0.0:0.632:0.2873:0.0807	.	266;266	P78424-2;P78424	.;PO6F2_HUMAN	I	266	ENSP00000384004:T266I;ENSP00000430514:T266I	ENSP00000384004:T266I	T	+	2	0	POU6F2	39346051	0.340000	0.24792	0.972000	0.41901	0.925000	0.55904	1.989000	0.40707	0.884000	0.36064	0.557000	0.71058	ACC		0.627	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3		NM_007252		23	45	0	0	0	0.062417	0	23	45		
ABHD11	83451	broad.mit.edu	37	7	73153094	73153094	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:73153094G>A	ENST00000222800.3	-	1	103	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C	ABHD11_ENST00000395147.4_Missense_Mutation_p.R12C|ABHD11_ENST00000458339.1_Missense_Mutation_p.R12C|ABHD11_ENST00000437775.2_Missense_Mutation_p.R12C|ABHD11_ENST00000468998.1_5'UTR|LINC00035_ENST00000427153.1_RNA	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	12						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				CGGGTCCAGCGGAGCATGCTT	0.706																																						uc003tzb.2		NaN																	0					0						c.(34-36)CGC>TGC		abhydrolase domain containing 11 isoform 1							19.0	23.0	22.0					7																	73153094		2172	4217	6389	SO:0001583	missense	83451						hydrolase activity	g.chr7:73153094G>A	AF217971	CCDS5558.1, CCDS47607.1, CCDS47608.1, CCDS75615.1	7q11.23	2010-08-05	2005-01-24	2005-01-27	ENSG00000106077	ENSG00000106077		"""Abhydrolase domain containing"""	16407	protein-coding gene	gene with protein product			"""Williams Beuren syndrome chromosome region 21"""	WBSCR21		12073013	Standard	NR_026910		Approved	PP1226	uc003tzb.3	Q8NFV4	OTTHUMG00000130029	ENST00000222800.3:c.34C>T	7.37:g.73153094G>A	ENSP00000222800:p.Arg12Cys					RFC2_uc011kfa.1_Intron|ABHD11_uc011kfb.1_Missense_Mutation_p.R12C|ABHD11_uc003tzc.2_Missense_Mutation_p.R12C|ABHD11_uc003tza.2_5'UTR|ABHD11_uc003tzf.2_Missense_Mutation_p.R12C|ABHD11_uc011kfc.1_Missense_Mutation_p.R12C	p.R12C	NM_148912	NP_683710	Q8NFV4	ABHDB_HUMAN			1	91	-		Lung NSC(55;0.0908)|all_lung(88;0.198)	12					H7BYM8|Q6PJU0|Q8N722|Q8N723|Q8NFV2|Q8NFV3|Q9HBS8	Missense_Mutation	SNP	ENST00000222800.3	37	c.34C>T	CCDS5558.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.101977	0.37048	.	.	ENSG00000106077	ENST00000437775;ENST00000222800;ENST00000322862;ENST00000458339;ENST00000395147	T;T;T;T	0.46063	1.46;1.48;0.88;0.9	5.09	-1.38	0.09027	.	0.446326	0.21812	N	0.068750	T	0.15392	0.0371	N	0.08118	0	0.37804	D	0.927798	B;B;B;B;B	0.29232	0.238;0.013;0.098;0.022;0.013	B;B;B;B;B	0.23852	0.049;0.005;0.029;0.011;0.005	T	0.05500	-1.0881	10	0.49607	T	0.09	-2.6407	1.3664	0.02202	0.3292:0.1357:0.3959:0.1392	.	12;12;12;12;12	Q8NFV4-2;C9J7Q4;Q8NFV4-3;Q8NFV4-4;Q8NFV4	.;.;.;.;ABHDB_HUMAN	C	12	ENSP00000416970:R12C;ENSP00000222800:R12C;ENSP00000397666:R12C;ENSP00000378579:R12C	ENSP00000222800:R12C	R	-	1	0	ABHD11	72791030	0.991000	0.36638	0.932000	0.37286	0.321000	0.28281	0.147000	0.16202	-0.679000	0.05217	0.462000	0.41574	CGC		0.706	ABHD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252306.1				8	26	0	0	0	0.038147	0	8	26		
CALCR	799	broad.mit.edu	37	7	93055890	93055890	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:93055890G>A	ENST00000394441.1	-	13	1518	c.1203C>T	c.(1201-1203)acC>acT	p.T401T	CALCR_ENST00000426151.1_Silent_p.T401T|CALCR_ENST00000421592.1_Silent_p.T417T|CALCR_ENST00000360249.4_Silent_p.T417T|CALCR_ENST00000359558.2_Silent_p.T435T	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	435					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	GGCGCTTCACGGTGGTTTGGA	0.522																																						uc003umv.1		NaN																	0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(1303-1305)ACC>ACT		calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)						29.0	33.0	32.0					7																	93055890		2203	4300	6503	SO:0001819	synonymous_variant	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	g.chr7:93055890G>A	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.1203C>T	7.37:g.93055890G>A						CALCR_uc011kia.1_Silent_p.T215T|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Silent_p.T401T|CALCR_uc003umw.2_Silent_p.T401T	p.T435T	NM_001742	NP_001733	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		15	1566	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		417			Cytoplasmic (Potential).		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Silent	SNP	ENST00000394441.1	37	c.1305C>T	CCDS5631.1																																																																																				0.522	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2		NM_001742		36	38	0	0	0	0.064281	0	36	38		
DYNC1I1	1780	broad.mit.edu	37	7	95442532	95442532	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:95442532G>A	ENST00000324972.6	+	4	441	c.248G>A	c.(247-249)tGg>tAg	p.W83*	DYNC1I1_ENST00000437599.1_Nonsense_Mutation_p.W83*|DYNC1I1_ENST00000457059.1_Intron|DYNC1I1_ENST00000537881.1_Intron|DYNC1I1_ENST00000413338.1_Intron|DYNC1I1_ENST00000447467.2_Intron|DYNC1I1_ENST00000359388.4_Intron	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	83	Interaction with DCTN1. {ECO:0000250}.				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.W83*(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)			TTTTTAACATGGGATACCTGT	0.458																																						uc003uoc.3		NaN																	1	Substitution - Nonsense(1)		haematopoietic_and_lymphoid_tissue(1)	ovary(3)|kidney(1)	4						c.(247-249)TGG>TAG		dynein, cytoplasmic 1, intermediate chain 1							129.0	130.0	130.0					7																	95442532		2203	4300	6503	SO:0001587	stop_gained	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.chr7:95442532G>A	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.248G>A	7.37:g.95442532G>A	ENSP00000320130:p.Trp83*					DYNC1I1_uc003uod.3_Intron|DYNC1I1_uc003uob.2_Intron|DYNC1I1_uc003uoe.3_Nonsense_Mutation_p.W83*|DYNC1I1_uc010lfl.2_Intron	p.W83*	NM_004411	NP_004402	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		4	525	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		83			Interaction with DCTN1 (By similarity).		B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Nonsense_Mutation	SNP	ENST00000324972.6	37	c.248G>A	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785100	0.90282	.	.	ENSG00000158560	ENST00000324972;ENST00000437599	.	.	.	4.79	4.79	0.61399	.	0.108074	0.39146	N	0.001457	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-7.9043	12.8968	0.58104	0.0:0.0:0.7326:0.2674	.	.	.	.	X	83	.	ENSP00000320130:W83X	W	+	2	0	DYNC1I1	95280468	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.750000	0.47500	2.941000	0.99782	0.655000	0.94253	TGG		0.458	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1		NM_004411		46	35	0	0	0	0.048971	0	46	35		
PILRA	29992	broad.mit.edu	37	7	99997420	99997420	+	Missense_Mutation	SNP	G	G	A	rs201973358		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:99997420G>A	ENST00000198536.2	+	7	1014	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	PILRA_ENST00000394000.2_3'UTR|PILRA_ENST00000350573.2_Missense_Mutation_p.V195I|PILRA_ENST00000453419.1_Intron	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	268					signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGACGGCATCGTCTATGCTTC	0.587																																						uc003uuo.1		NaN																	0				skin(1)	1						c.(802-804)GTC>ATC		paired immunoglobulin-like type 2 receptor alpha		G	ILE/VAL,ILE/VAL,	0,4406		0,0,2203	175.0	142.0	153.0		802,583,	-5.0	0.0	7		153	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,utr-3	PILRA	NM_013439.2,NM_178272.1,NM_178273.1	29,29,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,	268/304,195/231,	99997420	1,13005	2203	4300	6503	SO:0001583	missense	29992				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr7:99997420G>A	AF161080	CCDS5691.1, CCDS5692.1, CCDS47660.1	7q22.1	2013-01-11			ENSG00000085514	ENSG00000085514		"""Immunoglobulin superfamily / V-set domain containing"""	20396	protein-coding gene	gene with protein product		605341				10660620	Standard	NM_178272		Approved	FDF03	uc003uuo.1	Q9UKJ1	OTTHUMG00000155248	ENST00000198536.2:c.802G>A	7.37:g.99997420G>A	ENSP00000198536:p.Val268Ile					PILRA_uc011kjo.1_Intron|PILRA_uc003uup.1_Missense_Mutation_p.V195I|PILRA_uc003uuq.1_3'UTR	p.V268I	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN			7	1014	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		268			Cytoplasmic (Potential).|ITIM motif 1.		Q8NHI1	Missense_Mutation	SNP	ENST00000198536.2	37	c.802G>A	CCDS5691.1	.	.	.	.	.	.	.	.	.	.	G	5.665	0.307262	0.10733	0.0	1.16E-4	ENSG00000085514	ENST00000198536;ENST00000350573	T;T	0.47869	0.83;0.83	5.24	-5.0	0.03001	.	1.323570	0.05408	N	0.541977	T	0.18882	0.0453	N	0.04959	-0.14	0.09310	N	1	B;B	0.17465	0.022;0.013	B;B	0.09377	0.004;0.003	T	0.08351	-1.0726	9	.	.	.	.	1.2324	0.01946	0.4309:0.129:0.2382:0.2019	.	195;268	Q9UKJ1-3;Q9UKJ1	.;PILRA_HUMAN	I	268;195	ENSP00000198536:V268I;ENSP00000340109:V195I	.	V	+	1	0	PILRA	99835356	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.039000	0.03550	-1.201000	0.02659	-0.897000	0.02905	GTC		0.587	PILRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339016.1		NM_013439		40	139	0	0	0	0.080422	0	40	139		
TRIM56	81844	broad.mit.edu	37	7	100731304	100731304	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:100731304G>A	ENST00000306085.6	+	3	1008	c.711G>A	c.(709-711)gaG>gaA	p.E237E		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	237					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GGAGGGTGGAGAAGGAGGCGC	0.726																																					Ovarian(89;1092 1379 22756 38989 39611)	uc003uxq.2		NaN																	0				kidney(1)|central_nervous_system(1)|skin(1)	3						c.(709-711)GAG>GAA		tripartite motif-containing 56							8.0	11.0	10.0					7																	100731304		2116	4216	6332	SO:0001819	synonymous_variant	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100731304G>A	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.711G>A	7.37:g.100731304G>A						TRIM56_uc003uxr.2_Silent_p.E237E	p.E237E	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN			3	942	+	Lung NSC(181;0.136)|all_lung(186;0.182)		237			Potential.		Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	ENST00000306085.6	37	c.711G>A	CCDS43625.1																																																																																				0.726	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1		NM_030961		3	9	0	0	0	0.004672	0	3	9		
DLD	1738	broad.mit.edu	37	7	107546721	107546721	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:107546721G>A	ENST00000205402.5	+	8	873	c.592G>A	c.(592-594)Gat>Aat	p.D198N	DLD_ENST00000437604.2_Missense_Mutation_p.D150N|DLD_ENST00000440410.1_Missense_Mutation_p.D175N|DLD_ENST00000537148.1_Missense_Mutation_p.D99N	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	198					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	GATAGATGAAGATACAATAGT	0.328																																						uc003vet.2		NaN																	0				central_nervous_system(1)	1						c.(592-594)GAT>AAT		dihydrolipoamide dehydrogenase precursor	NADH(DB00157)						97.0	102.0	100.0					7																	107546721		2203	4298	6501	SO:0001583	missense	1738				branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity	g.chr7:107546721G>A	AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"""E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"""	238331	"""dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"""	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.592G>A	7.37:g.107546721G>A	ENSP00000205402:p.Asp198Asn					DLD_uc010ljm.1_RNA|DLD_uc011kmg.1_Missense_Mutation_p.D150N|DLD_uc011kmh.1_Missense_Mutation_p.D175N|DLD_uc011kmi.1_Missense_Mutation_p.D99N	p.D198N	NM_000108	NP_000099	P09622	DLDH_HUMAN			8	702	+			198					B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Missense_Mutation	SNP	ENST00000205402.5	37	c.592G>A	CCDS5749.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236340	0.79800	.	.	ENSG00000091140	ENST00000205402;ENST00000417551;ENST00000537148;ENST00000440410;ENST00000437604;ENST00000539590	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.75	5.75	0.90469	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.084654	0.85682	D	0.000000	T	0.41511	0.1162	L	0.28344	0.845	0.80722	D	1	B;B;B	0.26602	0.154;0.003;0.077	B;B;B	0.35655	0.207;0.024;0.12	T	0.33523	-0.9865	10	0.72032	D	0.01	-35.6315	20.312	0.98644	0.0:0.0:1.0:0.0	.	175;150;198	E9PEX6;B4DT69;P09622	.;.;DLDH_HUMAN	N	198;198;99;175;150;148	ENSP00000205402:D198N;ENSP00000390667:D198N;ENSP00000442399:D99N;ENSP00000417016:D175N;ENSP00000387542:D150N	ENSP00000205402:D198N	D	+	1	0	DLD	107333957	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.106000	0.94253	2.866000	0.98385	0.650000	0.86243	GAT		0.328	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337194.3		NM_000108		8	25	0	0	0	0.047766	0	8	25		
ZYX	7791	broad.mit.edu	37	7	143085644	143085644	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:143085644C>G	ENST00000322764.5	+	7	1552	c.1207C>G	c.(1207-1209)Cag>Gag	p.Q403E	ZYX_ENST00000392910.2_Missense_Mutation_p.Q246E|ZYX_ENST00000449423.2_Missense_Mutation_p.Q316E|EPHA1_ENST00000458129.1_5'Flank	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	403	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					CGCTCTAGGGCAGCTGTTCCA	0.642																																						uc003wcw.2		NaN																	0					0						c.(1207-1209)CAG>GAG		zyxin							55.0	64.0	61.0					7																	143085644		2203	4300	6503	SO:0001583	missense	7791				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding	g.chr7:143085644C>G	X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.1207C>G	7.37:g.143085644C>G	ENSP00000324422:p.Gln403Glu					ZYX_uc011ktd.1_Missense_Mutation_p.Q246E|ZYX_uc003wcx.2_Missense_Mutation_p.Q403E|ZYX_uc011kte.1_Missense_Mutation_p.Q372E|ZYX_uc011ktf.1_Missense_Mutation_p.Q246E	p.Q403E	NM_001010972	NP_001010972	Q15942	ZYX_HUMAN			7	1362	+	Melanoma(164;0.205)		403			LIM zinc-binding 1.		A4D2G6|Q6I9S4	Missense_Mutation	SNP	ENST00000322764.5	37	c.1207C>G	CCDS5883.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631035	0.46944	.	.	ENSG00000159840	ENST00000322764;ENST00000354434;ENST00000449423;ENST00000392910;ENST00000446634	D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18;-2.18	4.61	3.7	0.42460	Zinc finger, LIM-type (4);	0.377742	0.23356	N	0.049067	T	0.80660	0.4665	N	0.17248	0.465	0.28358	N	0.920606	P;P	0.44877	0.845;0.738	P;B	0.49192	0.602;0.364	T	0.73889	-0.3840	10	0.52906	T	0.07	.	6.8969	0.24260	0.3067:0.6087:0.0:0.0846	.	316;403	B4DQR8;Q15942	.;ZYX_HUMAN	E	403;371;316;246;93	ENSP00000324422:Q403E;ENSP00000346417:Q371E;ENSP00000394158:Q316E;ENSP00000376642:Q246E;ENSP00000403714:Q93E	ENSP00000324422:Q403E	Q	+	1	0	ZYX	142795766	0.992000	0.36948	0.987000	0.45799	0.816000	0.46133	1.635000	0.37134	0.995000	0.38917	0.491000	0.48974	CAG		0.642	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2		NM_003461		26	84	0	0	0	0.030593	0	26	84		
SSPO	23145	broad.mit.edu	37	7	149512268	149512268	+	RNA	SNP	G	G	A	rs368962833		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:149512268G>A	ENST00000378016.2	+	0	10588							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGTAGACTGCGGGGGTGGCCA	0.662																																						uc010lpk.2		NaN																	0					0						c.(10588-10590)GGG>AGG		SCO-spondin precursor		A		0,4122		0,0,2061	37.0	45.0	42.0		10598	2.6	0.8	7		42	1,8369		0,1,4184	no	coding-notMod3	SSPO	NM_198455.2		0,1,6245	AA,AG,GG		0.0119,0.0,0.0080			149512268	1,12491	2061	4185	6246			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149512268G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149512268G>A							p.G3530R	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		76	10588	+	Melanoma(164;0.165)|Ovarian(565;0.177)		3530					Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.10588G>A																																																																																					0.662	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript					14	42	0	0	0	0.024245	0	14	42		
MYOM2	9172	broad.mit.edu	37	8	2026821	2026821	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:2026821A>C	ENST00000262113.4	+	12	1410	c.1269A>C	c.(1267-1269)gaA>gaC	p.E423D	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	423	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GAAGATGTGAAGTAGGAACGA	0.378																																						uc003wpx.3		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1267-1269)GAA>GAC		myomesin 2							79.0	88.0	85.0					8																	2026821		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2026821A>C		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1269A>C	8.37:g.2026821A>C	ENSP00000262113:p.Glu423Asp					MYOM2_uc011kwi.1_Intron	p.E423D	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	12	1407	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	423			Fibronectin type-III 1.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.1269A>C	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	A	11.18	1.562720	0.27915	.	.	ENSG00000036448	ENST00000262113	T	0.58506	0.33	4.71	0.354	0.16063	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.58148	0.2102	L	0.39147	1.195	0.80722	D	1	D	0.63880	0.993	D	0.63283	0.913	T	0.50659	-0.8802	10	0.27785	T	0.31	.	8.4647	0.32949	0.742:0.0:0.258:0.0	.	423	P54296	MYOM2_HUMAN	D	423	ENSP00000262113:E423D	ENSP00000262113:E423D	E	+	3	2	MYOM2	2014228	1.000000	0.71417	0.998000	0.56505	0.105000	0.19272	0.883000	0.28200	-0.133000	0.11537	0.459000	0.35465	GAA		0.378	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1		NM_003970		31	17	0	0	0	0.050027	0	31	17		
SLC35G5	83650	broad.mit.edu	37	8	11189370	11189370	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:11189370G>A	ENST00000382435.4	+	1	974	c.755G>A	c.(754-756)aGt>aAt	p.S252N		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	252						integral component of membrane (GO:0016021)											GACCTCCTGAGTTGGAGTTGT	0.632																																						uc003wtp.1		NaN																	0					0						c.(754-756)AGT>AAT		acyl-malonyl condensing enzyme							88.0	92.0	91.0					8																	11189370		2203	4300	6503	SO:0001583	missense	83650					integral to membrane		g.chr8:11189370G>A	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.755G>A	8.37:g.11189370G>A	ENSP00000371872:p.Ser252Asn						p.S252N	NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)	1	876	+			252			Helical; (Potential).		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	c.755G>A	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879568	0.33162	.	.	ENSG00000177710	ENST00000382435	T	0.69040	-0.37	.	.	.	.	0.149427	0.31188	N	0.008094	T	0.55800	0.1943	L	0.44542	1.39	0.25557	N	0.98702	P	0.47484	0.896	P	0.48952	0.596	T	0.47368	-0.9123	9	0.19147	T	0.46	-4.5807	3.6132	0.08067	2.0E-4:0.4969:0.5026:2.0E-4	.	252	Q96KT7	S35G5_HUMAN	N	252	ENSP00000371872:S252N	ENSP00000371872:S252N	S	+	2	0	SLC35G5	11226780	0.969000	0.33509	0.202000	0.23494	0.204000	0.24138	1.472000	0.35376	0.088000	0.17205	0.089000	0.15464	AGT		0.632	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2		NM_054028		4	57	0	0	0	0.02938	0	4	57		
PXDNL	137902	broad.mit.edu	37	8	52321799	52321799	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:52321799G>A	ENST00000356297.4	-	17	2485	c.2385C>T	c.(2383-2385)ccC>ccT	p.P795P	PXDNL_ENST00000543296.1_Silent_p.P795P	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	795					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGCTGTGGTCGGGGGTGACGG	0.726																																						uc003xqu.3		NaN																	0				ovary(1)|pancreas(1)	2						c.(2383-2385)CCC>CCT		peroxidasin homolog-like precursor							11.0	13.0	12.0					8																	52321799		2045	4115	6160	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321799G>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2385C>T	8.37:g.52321799G>A						PXDNL_uc003xqt.3_RNA	p.P795P	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			17	2486	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	795					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.2385C>T	CCDS47855.1																																																																																				0.726	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1		NM_144651		3	3	0	0	0	0.004672	0	3	3		
PREX2	80243	broad.mit.edu	37	8	69020396	69020396	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:69020396C>T	ENST00000288368.4	+	24	3045	c.2768C>T	c.(2767-2769)tCt>tTt	p.S923F		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	923					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAGGCCAAATCTAAAATCTCC	0.403																																						uc003xxv.1		NaN																	0				skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(2767-2769)TCT>TTT		DEP domain containing 2 isoform a							91.0	81.0	84.0					8																	69020396		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69020396C>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2768C>T	8.37:g.69020396C>T	ENSP00000288368:p.Ser923Phe					PREX2_uc011lez.1_Missense_Mutation_p.S858F	p.S923F	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			24	2795	+			923					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.2768C>T	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396305	0.62177	.	.	ENSG00000046889	ENST00000288368;ENST00000396539	T	0.37752	1.18	5.85	5.85	0.93711	.	0.192527	0.47093	D	0.000244	T	0.40862	0.1134	L	0.36672	1.1	0.43091	D	0.994768	P;B	0.36909	0.573;0.013	B;B	0.42771	0.397;0.048	T	0.24584	-1.0156	10	0.62326	D	0.03	.	20.1634	0.98142	0.0:1.0:0.0:0.0	.	988;923	Q70Z35-2;Q70Z35	.;PREX2_HUMAN	F	923;989	ENSP00000288368:S923F	ENSP00000288368:S923F	S	+	2	0	PREX2	69182950	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.006000	0.70724	2.773000	0.95371	0.655000	0.94253	TCT		0.403	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1		NM_025170		5	32	0	0	0	0.014758	0	5	32		
PKHD1L1	93035	broad.mit.edu	37	8	110457754	110457754	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:110457754G>A	ENST00000378402.5	+	38	5760	c.5656G>A	c.(5656-5658)Gct>Act	p.A1886T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1886	IPT/TIG 11.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCGCACTCCCGCTGGGACCAC	0.433										HNSCC(38;0.096)																												uc003yne.2		NaN																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(5656-5658)GCT>ACT		fibrocystin L precursor							42.0	43.0	43.0					8																	110457754		1910	4122	6032	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457754G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5656G>A	8.37:g.110457754G>A	ENSP00000367655:p.Ala1886Thr	HNSCC(38;0.096)					p.A1886T	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5760	+			1886			Extracellular (Potential).|IPT/TIG 11.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.5656G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875698	0.33162	.	.	ENSG00000205038	ENST00000378402	T	0.78595	-1.19	5.91	3.05	0.35203	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.211940	0.41001	D	0.000972	D	0.89382	0.6699	M	0.89601	3.045	0.27249	N	0.958957	D	0.76494	0.999	D	0.72982	0.979	D	0.84854	0.0815	10	0.66056	D	0.02	.	15.3548	0.74418	0.0:0.3977:0.6023:0.0	.	1886	Q86WI1	PKHL1_HUMAN	T	1886	ENSP00000367655:A1886T	ENSP00000367655:A1886T	A	+	1	0	PKHD1L1	110526930	0.437000	0.25593	0.655000	0.29622	0.006000	0.05464	0.738000	0.26158	0.358000	0.24211	-0.150000	0.13652	GCT		0.433	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1		NM_177531		3	16	0	0	0	0.004672	0	3	16		
RAD21	5885	broad.mit.edu	37	8	117866640	117866640	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:117866640C>G	ENST00000297338.2	-	9	1292	c.1005G>C	c.(1003-1005)aaG>aaC	p.K335N	RAD21_ENST00000523986.1_5'Flank|RAD21_ENST00000518055.1_5'Flank|RAD21_ENST00000523547.1_5'Flank	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	335	Interaction with WAPAL and PDS5B.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					CTCTAATTGTCTTGCTATCCA	0.378																																						uc003yod.2		NaN																	0				lung(1)|skin(1)	2						c.(1003-1005)AAG>AAC		RAD21 homolog							170.0	162.0	165.0					8																	117866640		2203	4299	6502	SO:0001583	missense	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117866640C>G	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.1005G>C	8.37:g.117866640C>G	ENSP00000297338:p.Lys335Asn						p.K335N	NM_006265	NP_006256	O60216	RAD21_HUMAN			9	1293	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		335			Interaction with WAPAL and PDS5B.		A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	c.1005G>C	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618882	0.66787	.	.	ENSG00000164754	ENST00000297338	T	0.63255	-0.03	5.34	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.76463	0.3991	M	0.74881	2.28	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.74586	-0.3616	10	0.23891	T	0.37	-2.6581	14.2706	0.66149	0.0:0.9271:0.0:0.0728	.	335	O60216	RAD21_HUMAN	N	335	ENSP00000297338:K335N	ENSP00000297338:K335N	K	-	3	2	RAD21	117935821	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.697000	0.47060	1.231000	0.43661	0.557000	0.71058	AAG		0.378	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1		NM_006265		14	57	0	0	0	0.028581	0	14	57		
ADCY8	114	broad.mit.edu	37	8	131922042	131922042	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:131922042C>T	ENST00000286355.5	-	6	3644	c.1552G>A	c.(1552-1554)Ggt>Agt	p.G518S	ADCY8_ENST00000377928.3_Missense_Mutation_p.G518S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	518					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCCAAAACACCGCACAGCACC	0.473										HNSCC(32;0.087)																												uc003ytd.3		NaN																	0				skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1552-1554)GGT>AGT		adenylate cyclase 8							255.0	202.0	220.0					8																	131922042		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131922042C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1552G>A	8.37:g.131922042C>T	ENSP00000286355:p.Gly518Ser	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.G518S	p.G518S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		6	1808	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		518			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.1552G>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588537	0.86851	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	D;D;D	0.89746	-2.56;-2.56;-2.56	5.93	5.93	0.95920	Adenylyl cyclase class-3/4/guanylyl cyclase, conserved site (1);Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.96886	0.8983	H	0.97465	4.01	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97697	1.0182	10	0.87932	D	0	.	19.3421	0.94347	0.0:1.0:0.0:0.0	.	518;518	E7EVL1;P40145	.;ADCY8_HUMAN	S	518;518;133	ENSP00000286355:G518S;ENSP00000367161:G518S;ENSP00000428010:G133S	ENSP00000286355:G518S	G	-	1	0	ADCY8	131991224	1.000000	0.71417	0.719000	0.30619	0.046000	0.14306	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	GGT		0.473	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1				63	51	0	0	0	0.048971	0	63	51		
SLC45A4	57210	broad.mit.edu	37	8	142228784	142228784	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:142228784C>T	ENST00000024061.3	-	4	1109	c.802G>A	c.(802-804)Gac>Aac	p.D268N	SLC45A4_ENST00000433583.2_Missense_Mutation_p.D261N|SLC45A4_ENST00000517878.1_Missense_Mutation_p.D319N|SLC45A4_ENST00000519067.1_Missense_Mutation_p.D268N	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGCTCCAGGTCCAGCGCGGTG	0.672																																						uc003ywd.1		NaN																	0				ovary(2)	2						c.(802-804)GAC>AAC		solute carrier family 45, member 4							61.0	64.0	63.0					8																	142228784		2203	4300	6503	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142228784C>T	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.802G>A	8.37:g.142228784C>T	ENSP00000024061:p.Asp268Asn					SLC45A4_uc003ywc.1_Missense_Mutation_p.D268N|SLC45A4_uc010meq.1_Missense_Mutation_p.D266N	p.D268N	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		4	1110	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		319					Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.802G>A	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351971	0.82132	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	T;T;T;T	0.20069	2.17;2.13;2.15;2.1	5.75	5.75	0.90469	.	0.471430	0.25789	N	0.028300	T	0.36908	0.0984	L	0.53249	1.67	0.30443	N	0.776039	P;P;P	0.52061	0.856;0.95;0.852	B;P;P	0.53185	0.357;0.72;0.56	T	0.09335	-1.0679	10	0.45353	T	0.12	-31.4426	20.0015	0.97412	0.0:1.0:0.0:0.0	.	319;268;268	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	N	268;319;261;268	ENSP00000429059:D268N;ENSP00000428137:D319N;ENSP00000400799:D261N;ENSP00000024061:D268N	ENSP00000024061:D268N	D	-	1	0	SLC45A4	142297966	1.000000	0.71417	0.977000	0.42913	0.732000	0.41865	5.396000	0.66297	2.731000	0.93534	0.555000	0.69702	GAC		0.672	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3		XM_050325		39	86	0	0	0	0.086207	0	39	86		
TOP1MT	116447	broad.mit.edu	37	8	144406198	144406198	+	Missense_Mutation	SNP	G	G	A	rs375561204		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:144406198G>A	ENST00000329245.4	-	7	965	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W	TOP1MT_ENST00000521193.1_Missense_Mutation_p.R213W|TOP1MT_ENST00000519148.1_Missense_Mutation_p.R213W|TOP1MT_ENST00000523676.1_Missense_Mutation_p.R213W	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	311					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GCCACCGCCCGCTGTCTCGTC	0.582																																						uc003yxz.2		NaN																	0				ovary(1)	1						c.(931-933)CGG>TGG		mitochondrial topoisomerase I precursor	Irinotecan(DB00762)|Topotecan(DB01030)	G	TRP/ARG	0,4406		0,0,2203	93.0	102.0	99.0		931	-0.1	0.0	8		99	1,8599	1.2+/-3.3	0,1,4299	no	missense	TOP1MT	NM_052963.1	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	311/602	144406198	1,13005	2203	4300	6503	SO:0001583	missense	116447				DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	g.chr8:144406198G>A	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.931C>T	8.37:g.144406198G>A	ENSP00000328835:p.Arg311Trp					TOP1MT_uc011lkd.1_Missense_Mutation_p.R213W|TOP1MT_uc011lke.1_Missense_Mutation_p.R213W|TOP1MT_uc010mfb.2_Missense_Mutation_p.R213W|TOP1MT_uc011lkf.1_Missense_Mutation_p.R106W|TOP1MT_uc010mfd.1_Missense_Mutation_p.R106W	p.R311W	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		7	950	-	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		311					B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	ENST00000329245.4	37	c.931C>T	CCDS6400.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170481	0.57584	0.0	1.16E-4	ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676;ENST00000522041	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	3.61	-0.139	0.13460	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, eukaryotic-type (1);DNA topoisomerase I, C-terminal (1);DNA topoisomerase I, catalytic core, alpha-helical subdomain, eukaryotic-type (1);	0.349613	0.19197	U	0.120279	T	0.65933	0.2739	H	0.95402	3.665	0.32446	N	0.54605	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.988	T	0.64812	-0.6319	10	0.87932	D	0	-2.3908	2.0556	0.03580	0.1237:0.1117:0.2334:0.5312	.	106;311	E7ESI1;Q969P6	.;TOP1M_HUMAN	W	311;213;213;213;213	ENSP00000328835:R311W;ENSP00000428369:R213W;ENSP00000429169:R213W;ENSP00000429181:R213W;ENSP00000427998:R213W	ENSP00000328835:R311W	R	-	1	2	TOP1MT	144477573	0.039000	0.19947	0.000000	0.03702	0.275000	0.26752	0.090000	0.15025	-0.478000	0.06823	0.411000	0.27672	CGG		0.582	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3		NM_052963		66	48	0	0	0	0.048971	0	66	48		
NPR2	4882	broad.mit.edu	37	9	35811307	35811307	+	IGR	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr9:35811307C>T	ENST00000342694.2	+	0	3686				SPAG8_ENST00000484764.1_Missense_Mutation_p.E244K|AL133410.1_ENST00000582432.1_RNA|HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000396638.2_Missense_Mutation_p.E246K|SPAG8_ENST00000340291.2_Missense_Mutation_p.E246K|SPAG8_ENST00000479751.1_5'UTR	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TGCAAAAATTCCCAAGGTGGT	0.532																																						uc003zye.2		NaN																	0				ovary(1)	1						c.(736-738)GAA>AAA		sperm associated antigen 8 isoform 2							112.0	135.0	127.0					9																	35811307		2200	4298	6498	SO:0001628	intergenic_variant	26206					acrosomal vesicle|membrane		g.chr9:35811307C>T	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35811307C>T						SPAG8_uc003zyf.2_Missense_Mutation_p.E163K|SPAG8_uc003zyg.2_Missense_Mutation_p.E246K	p.E246K	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		2	851	-	all_epithelial(49;0.161)		246					B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	c.736G>A	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.204034	0.38905	.	.	ENSG00000137098	ENST00000340291;ENST00000484764;ENST00000396638	T;T;T	0.33865	1.39;1.46;1.46	5.65	0.0641	0.14351	.	1.049870	0.07478	N	0.903335	T	0.24236	0.0587	N	0.22421	0.69	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.13407	0.009;0.009	T	0.28586	-1.0039	10	0.36615	T	0.2	-3.0772	8.1583	0.31183	0.0:0.3954:0.0:0.6046	.	246;246	E9PDV6;Q99932-2	.;.	K	246;244;246	ENSP00000340982:E246K;ENSP00000418072:E244K;ENSP00000379878:E246K	ENSP00000340982:E246K	E	-	1	0	SPAG8	35801307	0.014000	0.17966	0.040000	0.18447	0.023000	0.10783	-0.248000	0.08854	0.077000	0.16863	-0.140000	0.14226	GAA		0.532	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1				10	345	0	0	0	0.069234	0	10	345		
NIPSNAP3B	55335	broad.mit.edu	37	9	107531159	107531159	+	Missense_Mutation	SNP	G	G	A	rs141198887	byFrequency	TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr9:107531159G>A	ENST00000374762.3	+	3	358	c.287G>A	c.(286-288)cGa>cAa	p.R96Q	NIPSNAP3B_ENST00000461177.1_3'UTR	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B (C. elegans)	96										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						TTTGCTCATCGAGCTGAAGTT	0.343																																						uc004bci.2		NaN																	0				pancreas(1)|skin(1)	2						c.(286-288)CGA>CAA		nipsnap homolog 3B		G	GLN/ARG	0,4406		0,0,2203	71.0	68.0	69.0		287	3.8	0.7	9	dbSNP_134	69	4,8596	3.7+/-12.6	0,4,4296	yes	missense	NIPSNAP3B	NM_018376.2	43	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	96/248	107531159	4,13002	2203	4300	6503	SO:0001583	missense	55335							g.chr9:107531159G>A	BC017914	CCDS6761.1	9q31.3	2003-11-27			ENSG00000165028	ENSG00000165028			23641	protein-coding gene	gene with protein product		608872				12477932	Standard	NM_018376		Approved	FLJ11275	uc004bci.3	Q9BS92	OTTHUMG00000020414	ENST00000374762.3:c.287G>A	9.37:g.107531159G>A	ENSP00000363894:p.Arg96Gln					NIPSNAP3A_uc011lvu.1_Intron|NIPSNAP3B_uc004bcj.1_RNA	p.R96Q	NM_018376	NP_060846	Q9BS92	NPS3B_HUMAN			3	358	+			96					Q5VX30|Q9NUM2	Missense_Mutation	SNP	ENST00000374762.3	37	c.287G>A	CCDS6761.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977024	0.74360	0.0	4.65E-4	ENSG00000165028	ENST00000374762	T	0.61510	0.1	3.77	3.77	0.43336	Dimeric alpha-beta barrel (1);	0.000000	0.64402	U	0.000001	T	0.77651	0.4162	M	0.88979	2.995	0.44323	D	0.997208	D	0.89917	1.0	D	0.85130	0.997	T	0.80502	-0.1354	10	0.45353	T	0.12	-7.6378	12.9916	0.58622	0.0:0.0:1.0:0.0	.	96	Q9BS92	NPS3B_HUMAN	Q	96	ENSP00000363894:R96Q	ENSP00000363894:R96Q	R	+	2	0	NIPSNAP3B	106570980	0.997000	0.39634	0.659000	0.29680	0.913000	0.54294	2.191000	0.42640	2.088000	0.63022	0.650000	0.86243	CGA		0.343	NIPSNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053486.1		NM_018376		8	20	0	0	0	0.047766	0	8	20		
SVEP1	79987	broad.mit.edu	37	9	113252013	113252013	+	Missense_Mutation	SNP	G	G	C	rs372384647		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr9:113252013G>C	ENST00000401783.2	-	9	2183	c.1847C>G	c.(1846-1848)cCa>cGa	p.P616R	SVEP1_ENST00000374461.1_Missense_Mutation_p.P593R|SVEP1_ENST00000302728.8_Missense_Mutation_p.P616R|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.P593R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	616	HYR 1. {ECO:0000255|PROSITE- ProRule:PRU00113}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATCTCCAATTGGGAAAAGGTA	0.413																																						uc010mtz.2		NaN																	0				ovary(7)	7						c.(1846-1848)CCA>CGA		polydom							148.0	144.0	145.0					9																	113252013		1940	4142	6082	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113252013G>C	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1847C>G	9.37:g.113252013G>C	ENSP00000384917:p.Pro616Arg					SVEP1_uc010mua.1_Missense_Mutation_p.P616R|SVEP1_uc004beu.2_Missense_Mutation_p.P616R	p.P616R	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			9	2184	-			616			HYR 1.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.1847C>G	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925064	0.73213	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	4.85	4.85	0.62838	Hyalin (2);	0.000000	0.85682	D	0.000000	T	0.47655	0.1457	M	0.65975	2.015	0.48571	D	0.999678	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.37619	-0.9698	10	0.12430	T	0.62	.	17.9412	0.89027	0.0:0.0:1.0:0.0	.	616;616;616	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	R	616;593;616;593	ENSP00000384917:P616R;ENSP00000363593:P593R;ENSP00000304118:P616R;ENSP00000363585:P593R	ENSP00000304118:P616R	P	-	2	0	SVEP1	112291834	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.280000	0.78610	2.247000	0.74100	0.563000	0.77884	CCA		0.413	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					21	44	0	0	0	0.062417	0	21	44		
LRSAM1	90678	broad.mit.edu	37	9	130265127	130265127	+	Silent	SNP	G	G	A	rs570732998	byFrequency	TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr9:130265127G>A	ENST00000323301.4	+	25	2725	c.2121G>A	c.(2119-2121)ccG>ccA	p.P707P	LRSAM1_ENST00000373322.1_Silent_p.P707P|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373324.4_Silent_p.P680P|LRSAM1_ENST00000300417.6_Silent_p.P707P	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	707					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GCACCTGCCCGCTGTGCCGCC	0.682													G|||	3	0.000599042	0.0	0.0	5008	,	,		13140	0.001		0.002	False		,,,				2504	0.0					uc004brb.1		NaN																	0					0						c.(2119-2121)CCG>CCA		leucine rich repeat and sterile alpha motif							23.0	21.0	21.0					9																	130265127		2202	4298	6500	SO:0001819	synonymous_variant	90678				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:130265127G>A	AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.2121G>A	9.37:g.130265127G>A						LRSAM1_uc010mxk.1_Silent_p.P680P|LRSAM1_uc004brc.1_Silent_p.P707P|LRSAM1_uc004brd.1_Silent_p.P707P|LRSAM1_uc004bre.1_Silent_p.P287P|LRSAM1_uc004brg.1_Silent_p.P138P	p.P707P	NM_001005373	NP_001005373	Q6UWE0	LRSM1_HUMAN			26	2466	+			707			RING-type.		Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Silent	SNP	ENST00000323301.4	37	c.2121G>A	CCDS6873.1																																																																																				0.682	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1		NM_138361		10	7	0	0	0	0.058154	0	10	7		
ABO	28	broad.mit.edu	37	9	136137502	136137502	+	RNA	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr9:136137502C>T	ENST00000453660.2	-	0	109							P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		TGTGTCTTACCCAAACAAGAC	0.488																																						uc004cda.1		NaN																	0					0						c.(97-99)GGT>GAT		ABO blood group (alpha							109.0	111.0	110.0					9																	136137502		1978	4164	6142			28				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr9:136137502C>T	AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"""Blood group antigens"", ""Glycosyltransferase family 6 domain containing"""	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136137502C>T						ABO_uc010naf.1_5'UTR|ABO_uc011mcz.1_5'UTR|ABO_uc010nag.1_Intron	p.G33D	NM_020469	NP_065202	P16442	BGAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)	2	123	-			33			Helical; Signal-anchor for type II membrane protein; (Potential).		B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	Missense_Mutation	SNP	ENST00000453660.2	37	c.98G>A																																																																																					0.488	ABO-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054907.4		NM_020469		4	11	0	0	0	0.009096	0	4	11		
ADAMTSL2	9719	broad.mit.edu	37	9	136409600	136409600	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr9:136409600C>T	ENST00000354484.4	+	8	1248	c.691C>T	c.(691-693)Ctg>Ttg	p.L231L	ADAMTSL2_ENST00000393060.1_Silent_p.L231L|ADAMTSL2_ENST00000393061.3_Silent_p.L340L	NM_001145320.1	NP_001138792.1	Q86TH1	ATL2_HUMAN	ADAMTS-like 2	231					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		AGGTTACTCTCTGGTGACCCA	0.587																																						uc011mdl.1		NaN																	0				ovary(1)	1						c.(691-693)CTG>TTG		ADAMTS-like 2 precursor							149.0	132.0	138.0					9																	136409600		2203	4300	6503	SO:0001819	synonymous_variant	9719				negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr9:136409600C>T	AB011177	CCDS6976.1	9q34.3	2005-01-12			ENSG00000197859	ENSG00000197859			14631	protein-coding gene	gene with protein product		612277				9628581, 14667842	Standard	NM_014694		Approved	KIAA0605	uc004cei.3	Q86TH1	OTTHUMG00000131706	ENST00000354484.4:c.691C>T	9.37:g.136409600C>T						ADAMTSL2_uc004cei.2_Silent_p.L231L	p.L231L	NM_001145320	NP_001138792	Q86TH1	ATL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)	8	1248	+			231					B1B0D5|O60345	Silent	SNP	ENST00000354484.4	37	c.691C>T	CCDS6976.1																																																																																				0.587	ADAMTSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254619.1		NM_014694		43	54	0	0	0	0.045515	0	43	54		
RXRA	6256	broad.mit.edu	37	9	137321028	137321028	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr9:137321028G>A	ENST00000481739.1	+	7	1037	c.985G>A	c.(985-987)Ggg>Agg	p.G329R	RXRA_ENST00000540193.1_Missense_Mutation_p.G232R|RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	329	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	CCTGGCCACCGGGCTGCACGT	0.682																																						uc004cfb.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(985-987)GGG>AGG		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						74.0	72.0	73.0					9																	137321028		2203	4300	6503	SO:0001583	missense	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137321028G>A	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.985G>A	9.37:g.137321028G>A	ENSP00000419692:p.Gly329Arg					RXRA_uc004cfc.1_Missense_Mutation_p.G232R	p.G329R	NM_002957	NP_002948	P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	7	1147	+			329			Ligand-binding.		B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	ENST00000481739.1	37	c.985G>A	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943574	0.92593	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	T;T	0.59502	0.26;0.26	4.05	4.05	0.47172	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.82360	0.5020	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88546	0.3113	10	0.87932	D	0	.	16.5701	0.84609	0.0:0.0:1.0:0.0	.	329	P19793	RXRA_HUMAN	R	329;232	ENSP00000419692:G329R;ENSP00000442123:G232R	ENSP00000419692:G329R	G	+	1	0	RXRA	136460849	1.000000	0.71417	0.974000	0.42286	0.957000	0.61999	9.401000	0.97294	1.974000	0.57490	0.491000	0.48974	GGG		0.682	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1		NM_002957		28	51	0	0	0	0.030593	0	28	51		
MAMDC4	158056	broad.mit.edu	37	9	139750013	139750013	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr9:139750013G>A	ENST00000317446.2	+	12	1463	c.1413G>A	c.(1411-1413)ccG>ccA	p.P471P	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Silent_p.P471P	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GTGTGCCCCCGGAACAACTGT	0.701																																						uc004cjs.2		NaN																	0				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7						c.(1411-1413)CCG>CCA		apical early endosomal glycoprotein precursor							12.0	12.0	12.0					9																	139750013		2166	4270	6436	SO:0001819	synonymous_variant	158056				protein transport	integral to membrane		g.chr9:139750013G>A	AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"""apical early endosomal glycoprotein precursor"", ""endotubin"""					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.1413G>A	9.37:g.139750013G>A						MAMDC4_uc011mej.1_Intron	p.P471P	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	12	1463	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	471			Extracellular (Potential).|LDL-receptor class A 3.			Silent	SNP	ENST00000317446.2	37	c.1413G>A	CCDS7010.1	.	.	.	.	.	.	.	.	.	.	.	9.627	1.135445	0.21123	.	.	ENSG00000177943	ENST00000413647	.	.	.	4.76	-9.53	0.00575	.	.	.	.	.	T	0.33990	0.0882	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.40905	-0.9538	4	.	.	.	-21.0549	2.2443	0.04027	0.4728:0.099:0.2277:0.2005	.	.	.	.	R	453	.	.	G	+	1	0	MAMDC4	138869834	0.000000	0.05858	0.657000	0.29651	0.659000	0.38960	-7.215000	0.00041	-1.739000	0.01347	-0.258000	0.10820	GGA		0.701	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254642.3		NM_206920		3	10	0	0	0	0.004672	0	3	10		
DHRSX	207063	broad.mit.edu	37	X	2184836	2184836	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chrX:2184836C>T	ENST00000334651.5	-	5	593	c.541G>A	c.(541-543)Gtc>Atc	p.V181I	DHRSX_ENST00000464935.1_5'UTR	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	181							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GCAGAGGAGACGGTGACCACC	0.547																																						uc004cqf.3		NaN																	0					0						c.(541-543)GTC>ATC		dehydrogenase/reductase (SDR family) X-linked			ILE/VAL	1,4405		0,1,2202	390.0	344.0	360.0		541	2.1	0.4	X	dbSNP_134	360	0,8592		0,0,4296	no	missense	DHRSX	NM_145177.2	29	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	181/331	2184836	1,12997	2203	4296	6499	SO:0001583	missense	207063						binding|oxidoreductase activity	g.chrX:2184836C>T	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.541G>A	X.37:g.2184836C>T	ENSP00000334113:p.Val181Ile						p.V181I	NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN			5	590	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	181					Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	ENST00000334651.5	37	c.541G>A	CCDS35195.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629329	0.28978	2.27E-4	0.0	ENSG00000169084	ENST00000334651;ENST00000412516;ENST00000444280	D;D;D	0.87571	-2.27;-2.27;-2.27	2.11	2.11	0.27256	NAD(P)-binding domain (1);	0.070917	0.56097	U	0.000026	D	0.89347	0.6689	L	0.59912	1.85	0.19775	N	0.999956	D	0.76494	0.999	P	0.62491	0.903	T	0.81070	-0.1099	10	0.72032	D	0.01	.	9.4639	0.38800	0.0:0.7846:0.2154:0.0	.	181	Q8N5I4	DHRSX_HUMAN	I	181;158;114	ENSP00000334113:V181I;ENSP00000391778:V158I;ENSP00000402741:V114I	ENSP00000334113:V181I	V	-	1	0	DHRSX	2194836	1.000000	0.71417	0.425000	0.26659	0.436000	0.31835	1.771000	0.38542	0.856000	0.35383	0.272000	0.19324	GTC		0.547	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3		NM_145177		113	103	0	0	0	0.048971	0	113	103		
DHRSX	207063	broad.mit.edu	37	X	2343295	2343295	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chrX:2343295C>A	ENST00000334651.5	-	2	212	c.160G>T	c.(160-162)Ggc>Tgc	p.G54C		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	54							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TAGCCAATGCCATCTGTCCCT	0.428																																						uc004cqf.3		NaN																	0					0						c.(160-162)GGC>TGC		dehydrogenase/reductase (SDR family) X-linked							202.0	177.0	186.0					X																	2343295		2203	4296	6499	SO:0001583	missense	207063						binding|oxidoreductase activity	g.chrX:2343295C>A	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.160G>T	X.37:g.2343295C>A	ENSP00000334113:p.Gly54Cys						p.G54C	NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN			2	209	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	54			NAD or NADP (By similarity).		Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	ENST00000334651.5	37	c.160G>T	CCDS35195.1	.	.	.	.	.	.	.	.	.	.	C	8.433	0.849031	0.17034	.	.	ENSG00000169084	ENST00000334651;ENST00000412516	T;T	0.52295	0.67;0.67	1.42	1.42	0.22433	NAD(P)-binding domain (1);	0.000000	0.64402	U	0.000016	T	0.76421	0.3985	H	0.98664	4.295	0.25209	N	0.989997	D	0.89917	1.0	D	0.97110	1.0	T	0.66771	-0.5839	10	0.87932	D	0	.	7.9455	0.29985	0.0:1.0:0.0:0.0	.	54	Q8N5I4	DHRSX_HUMAN	C	54	ENSP00000334113:G54C;ENSP00000391778:G54C	ENSP00000334113:G54C	G	-	1	0	DHRSX	2353295	1.000000	0.71417	0.006000	0.13384	0.005000	0.04900	3.281000	0.51685	0.758000	0.33059	0.420000	0.28162	GGC		0.428	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3		NM_145177		44	57	1	0	2.62258e-09	0.039052	2.80502e-09	44	57		
KIF4A	24137	broad.mit.edu	37	X	69626162	69626162	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chrX:69626162C>T	ENST00000374403.3	+	27	3112	c.3030C>T	c.(3028-3030)acC>acT	p.T1010T	KIF4A_ENST00000374388.3_Silent_p.T1010T	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	1010	Globular.|Interaction with PRC1.			QKHLPKDTLLSP -> RTLPRIPFYLQ (in Ref. 8; AAF86334). {ECO:0000305}.	anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CTAAGGATACCCTTCTATCTC	0.443																																						uc004dyg.2		NaN																	0				ovary(4)	4						c.(3028-3030)ACC>ACT		kinesin family member 4							118.0	101.0	107.0					X																	69626162		2203	4300	6503	SO:0001819	synonymous_variant	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69626162C>T	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.3030C>T	X.37:g.69626162C>T						KIF4A_uc010nkw.2_Silent_p.T1010T	p.T1010T	NM_012310	NP_036442	O95239	KIF4A_HUMAN			27	3157	+			1010	QKHLPKDTLLSP -> RTLPRIPFYLQ (in Ref. 8; AAF86334).		Globular.|Interaction with PRC1.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Silent	SNP	ENST00000374403.3	37	c.3030C>T	CCDS14401.1																																																																																				0.443	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1		NM_012310		41	6	0	0	0	0.042209	0	41	6		
COL4A6	1288	broad.mit.edu	37	X	107433641	107433641	+	Silent	SNP	T	T	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chrX:107433641T>A	ENST00000372216.4	-	20	1510	c.1410A>T	c.(1408-1410)ctA>ctT	p.L470L	COL4A6_ENST00000545689.1_Silent_p.L469L|COL4A6_ENST00000394872.2_Silent_p.L470L|COL4A6_ENST00000334504.7_Silent_p.L469L|COL4A6_ENST00000538570.1_Silent_p.L469L	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	470	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CTTTGAGGCCTAGGTTTCCTT	0.453									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	uc004enw.3		NaN																	0				ovary(6)|urinary_tract(1)|large_intestine(1)	8						c.(1408-1410)CTA>CTT		type IV alpha 6 collagen isoform A precursor							131.0	118.0	122.0					X																	107433641		2203	4300	6503	SO:0001819	synonymous_variant	1288	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107433641T>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.1410A>T	X.37:g.107433641T>A						COL4A6_uc004env.3_Silent_p.L469L|COL4A6_uc011msn.1_Silent_p.L469L|COL4A6_uc010npk.2_Silent_p.L469L	p.L470L	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			20	1513	-			470			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	37	c.1410A>T	CCDS14541.1																																																																																				0.453	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2				42	14	0	0	0	0.09836	0	42	14		
Unknown	0	broad.mit.edu	37	1	144615246	144615247	+	IGR	INS	-	-	AG	rs371124631|rs200815869	byFrequency	TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:144615246_144615247insAG								RP11-640M9.2 (9355 upstream) : NBPF9 (196496 downstream)																							GTAAACCTCAAAGAGATGTTTT	0.47														1285	0.256589	0.0703	0.2709	5008	,	,		13502	0.4583		0.2247	False		,,,				2504	0.3231					uc009wig.1		NaN																	0					0						c.e3+2		hypothetical protein LOC400818																																				SO:0001628	intergenic_variant	400818					cytoplasm		g.chr1:144615246_144615247insAG																													1.37:g.144615249_144615250dupAG						NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Intron|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_5'UTR|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_5'UTR|NBPF9_uc010oyg.1_Frame_Shift_Ins_p.K39fs|NBPF9_uc009wii.1_5'UTR|NBPF9_uc009wif.1_RNA|C1orf152_uc001elf.3_5'Flank	p.L38_splice	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN			3	190	+									Splice_Site	INS		37	c.114_splice																																																																																				0	0.470										8	235	NaN	NaN	NaN	NaN	NaN	8	235	---	---
TXNIP	10628	broad.mit.edu	37	1	145440061	145440064	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08			AAAG	-	AAAG	AAAG		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:145440061_145440064delAAAG	ENST00000369317.4	+	4	829_832	c.495_498delAAAG	c.(493-498)gaaaagfs	p.EK165fs	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	165					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)	p.K166R(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTAAAAAAGAAAAGAAAGTTTCCT	0.417																																						uc001enn.3		NaN																	1	Substitution - Missense(1)	p.K166R(1)	ovary(1)	ovary(2)	2						c.(493-498)GAAAAGfs		thioredoxin interacting protein																																				SO:0001589	frameshift_variant	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145440061_145440064delAAAG	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.495_498delAAAG	1.37:g.145440065_145440068delAAAG	ENSP00000358323:p.Glu165fs					NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Frame_Shift_Del_p.E110fs	p.E165fs	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN			4	836_839	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		165_166					B4E3D3|Q16226|Q6PML0|Q9BXG9	Frame_Shift_Del	DEL	ENST00000369317.4	37	c.495_498delAAAG	CCDS913.1																																																																																				0.417	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1		NM_006472		123	642	NaN	NaN	NaN	NaN	NaN	123	642	---	---
PLD2	5338	broad.mit.edu	37	17	4721806	4721807	+	Frame_Shift_Ins	INS	-	-	A	rs199553650		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:4721806_4721807insA	ENST00000263088.6	+	20	2158_2159	c.2027_2028insA	c.(2026-2031)cgagtcfs	p.V677fs	PLD2_ENST00000572940.1_Frame_Shift_Ins_p.V677fs	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	677	Catalytic.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	TGGTGTTACCGAGTCTACGTGC	0.599																																						uc002fzc.2		NaN																	0				breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5						c.(2026-2028)CGAfs		phospholipase D2	Choline(DB00122)																																			SO:0001589	frameshift_variant	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4721806_4721807insA	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.2028dupA	17.37:g.4721807_4721807dupA	ENSP00000263088:p.Val677fs					PLD2_uc002fzd.2_Frame_Shift_Ins_p.R676fs	p.R676fs	NM_002663	NP_002654	O14939	PLD2_HUMAN			20	2128_2129	+			676			Catalytic.		I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Frame_Shift_Ins	INS	ENST00000263088.6	37	c.2027_2028insA	CCDS11057.1																																																																																				0.599	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3		NM_002663		19	80	NaN	NaN	NaN	NaN	NaN	19	80	---	---
ASNA1	439	broad.mit.edu	37	19	12856516	12856520	+	Frame_Shift_Del	DEL	GCGGG	GCGGG	-			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:12856516_12856520delGCGGG	ENST00000591090.1	+	5	654_658	c.552_556delGCGGG	c.(550-558)gagcggggcfs	p.RG185fs	ASNA1_ENST00000357332.3_Frame_Shift_Del_p.RG185fs					arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)									p.E184_L187del(1)		endometrium(1)|lung(6)|ovary(3)	10						CCATCGTGGAGCGGGGCCTGGGCCG	0.644																																						uc002muv.2		NaN																	1	Deletion - In frame(1)	p.E184_L187del(1)	ovary(1)	ovary(2)	2						c.(550-558)GAGCGGGGCfs		arsA arsenite transporter, ATP-binding, homolog	Adenosine triphosphate(DB00171)																																			SO:0001589	frameshift_variant	439				response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding	g.chr19:12856516_12856520delGCGGG	U60276	CCDS32920.1	19p13.13	2010-08-05	2001-12-04			ENSG00000198356			752	protein-coding gene	gene with protein product	"""golgi to ER traffic 3 homolog (S. cerevisiae)"", ""transmembrane domain recognition complex, 40kDa"""	601913	"""arsA (bacterial) arsenite transporter, ATP-binding, homolog 1"""			8884272, 17382883	Standard	NM_004317		Approved	ARSA-I, GET3, TRC40	uc002muv.3	O43681		ENST00000591090.1:c.552_556delGCGGG	19.37:g.12856516_12856520delGCGGG	ENSP00000466379:p.Arg185fs					ASNA1_uc002muw.2_Frame_Shift_Del_p.E183fs	p.E184fs	NM_004317	NP_004308	O43681	ASNA_HUMAN			4	566_570	+			184_186						Frame_Shift_Del	DEL	ENST00000591090.1	37	c.552_556delGCGGG	CCDS32920.1																																																																																				0.644	ASNA1-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450921.1		NM_004317		12	84	NaN	NaN	NaN	NaN	NaN	12	84	---	---
ZNF341	84905	broad.mit.edu	37	20	32336863	32336863	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr20:32336863delC	ENST00000375200.1	+	4	839	c.474delC	c.(472-474)ggcfs	p.G158fs	ZNF341_ENST00000342427.2_Frame_Shift_Del_p.G158fs	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	158	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						TGCCCCAGGGCCCCCCACCTG	0.537																																						uc002wzy.2		NaN																	0				ovary(2)	2						c.(472-474)GGCfs		zinc finger protein 341							72.0	60.0	64.0					20																	32336863		2203	4300	6503	SO:0001589	frameshift_variant	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32336863delC	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.474delC	20.37:g.32336863delC	ENSP00000364346:p.Gly158fs					ZNF341_uc002wzx.2_Frame_Shift_Del_p.G158fs|ZNF341_uc010geq.2_Frame_Shift_Del_p.G68fs|ZNF341_uc010ger.2_RNA	p.G158fs	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN			4	494	+			158			Pro-rich.		A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Frame_Shift_Del	DEL	ENST00000375200.1	37	c.474delC																																																																																					0.537	ZNF341-201	KNOWN	basic	protein_coding	protein_coding					21	49	NaN	NaN	NaN	NaN	NaN	21	49	---	---
FSTL5	56884	broad.mit.edu	37	4	162954796	162954796	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:162954796delT	ENST00000306100.5	-	3	577	c.141delA	c.(139-141)caafs	p.Q47fs	FSTL5_ENST00000536695.1_Frame_Shift_Del_p.Q46fs|RP11-497K21.1_ENST00000513093.1_RNA|FSTL5_ENST00000379164.4_Frame_Shift_Del_p.Q46fs|FSTL5_ENST00000427802.2_Frame_Shift_Del_p.Q46fs	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	47						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTGAACTTTCTTGATTTTTTT	0.259																																						uc003iqh.2		NaN																	0				ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(139-141)CAAfs		follistatin-like 5 isoform a							30.0	31.0	30.0					4																	162954796		2163	4245	6408	SO:0001589	frameshift_variant	56884					extracellular region	calcium ion binding	g.chr4:162954796delT	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.141delA	4.37:g.162954796delT	ENSP00000305334:p.Gln47fs					FSTL5_uc003iqi.2_Frame_Shift_Del_p.Q46fs|FSTL5_uc010iqv.2_Frame_Shift_Del_p.Q46fs|uc011cji.1_Intron	p.Q47fs	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	3	577	-	all_hematologic(180;0.24)		47					E9PCP6|Q9NSW7|Q9ULF7	Frame_Shift_Del	DEL	ENST00000306100.5	37	c.141delA	CCDS3802.1																																																																																				0.259	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2		NM_020116		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
KIF6	221458	broad.mit.edu	37	6	39507890	39507890	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr6:39507890delG	ENST00000287152.7	-	13	1628	c.1534delC	c.(1534-1536)cgcfs	p.R512fs	KIF6_ENST00000538893.1_Intron|KIF6_ENST00000373216.3_Frame_Shift_Del_p.R512fs|KIF6_ENST00000373213.4_Frame_Shift_Del_p.R351fs|KIF6_ENST00000373215.3_Frame_Shift_Del_p.R512fs	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	512			R -> H (in dbSNP:rs2273063).		ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTTCCTAGGCGGAAGGGTGGG	0.498																																						uc003oot.2		NaN																	0				breast(2)|central_nervous_system(1)	3						c.(1534-1536)CGCfs		kinesin family member 6							192.0	195.0	194.0					6																	39507890		2203	4300	6503	SO:0001589	frameshift_variant	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39507890delG	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1534delC	6.37:g.39507890delG	ENSP00000287152:p.Arg512fs					KIF6_uc010jwz.1_5'UTR|KIF6_uc010jxa.1_Frame_Shift_Del_p.R303fs|KIF6_uc011dua.1_Frame_Shift_Del_p.R512fs|KIF6_uc010jxb.1_Intron	p.R512fs	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN			13	1629	-			512					Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Frame_Shift_Del	DEL	ENST00000287152.7	37	c.1534delC	CCDS4844.1																																																																																				0.498	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2		NM_145027		8	254	NaN	NaN	NaN	NaN	NaN	8	254	---	---
