#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_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CAMTA1	23261	broad.mit.edu	37	1	6880243	6880243	+	Silent	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:6880243C>T	ENST00000303635.7	+	2	255	c.48C>T	c.(46-48)agC>agT	p.S16S	CAMTA1_ENST00000467404.2_Intron|CAMTA1_ENST00000557126.1_Silent_p.S16S|CAMTA1_ENST00000439411.2_Silent_p.S16S|CAMTA1_ENST00000476163.1_Intron|CAMTA1_ENST00000473578.1_Silent_p.S16S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	16					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TTCCTTAGagcgtttcccaaa	0.373			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.2		NA		Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					0				ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(46-48)AGC>AGT		calmodulin-binding transcription activator 1							75.0	71.0	72.0					1																	6880243		2203	4300	6503	SO:0001819	synonymous_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:6880243C>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.48C>T	1.37:g.6880243C>T						CAMTA1_uc001aoh.2_RNA	p.S16S	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	2	255	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	16					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	c.48C>T	CCDS30576.1																																																																																				0.373	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		8	114	0	0	0	0	8	114				
HTR6	3362	broad.mit.edu	37	1	19992531	19992531	+	Silent	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:19992531G>A	ENST00000289753.1	+	1	752	c.285G>A	c.(283-285)gcG>gcA	p.A95A		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	95					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	GGGTGCTGGCGCGCGGCCTCT	0.652																																					Esophageal Squamous(168;1879 2619 6848 21062)	uc001bcl.2		NA																	0				ovary(1)	1						c.(283-285)GCG>GCA		5-hydroxytryptamine (serotonin) receptor 6	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)						49.0	47.0	48.0					1																	19992531		2203	4298	6501	SO:0001819	synonymous_variant	3362				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	g.chr1:19992531G>A	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.285G>A	1.37:g.19992531G>A							p.A95A	NM_000871	NP_000862	P50406	5HT6R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	1	752	+		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	95			Extracellular (By similarity).		Q13640|Q5TGZ1	Silent	SNP	ENST00000289753.1	37	c.285G>A	CCDS197.1																																																																																				0.652	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		6	112	0	0	0	0	6	112				
GRHL3	57822	broad.mit.edu	37	1	24663626	24663626	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:24663626A>C	ENST00000350501.5	+	5	798	c.671A>C	c.(670-672)tAc>tCc	p.Y224S	GRHL3_ENST00000361548.4_Missense_Mutation_p.Y224S|GRHL3_ENST00000342072.4_Missense_Mutation_p.Y131S|GRHL3_ENST00000356046.2_Missense_Mutation_p.Y178S|GRHL3_ENST00000236255.4_Missense_Mutation_p.Y229S	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	224					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CCAGAGGACTACCCCAGCCTC	0.562																																						uc001biy.2		NA																	0				ovary(1)	1						c.(685-687)TAC>TCC		sister-of-mammalian grainyhead protein isoform							66.0	66.0	66.0					1																	24663626		2203	4300	6503	SO:0001583	missense	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24663626A>C	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.671A>C	1.37:g.24663626A>C	ENSP00000288955:p.Tyr224Ser					GRHL3_uc001bix.2_Missense_Mutation_p.Y224S|GRHL3_uc001biz.2_Missense_Mutation_p.Y131S	p.Y229S	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	5	732	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	224					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.686A>C	CCDS252.2	.	.	.	.	.	.	.	.	.	.	A	24.2	4.508780	0.85282	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.11821	2.93;2.74;2.91;2.93;2.93	6.06	6.06	0.98353	.	0.224034	0.38959	N	0.001506	T	0.27933	0.0688	L	0.59436	1.845	0.50632	D	0.999881	P;P;P	0.51147	0.942;0.879;0.879	P;P;P	0.54759	0.76;0.55;0.55	T	0.00402	-1.1762	10	0.37606	T	0.19	-11.404	15.7905	0.78357	1.0:0.0:0.0:0.0	.	178;229;224	A2A297;Q8TE85-2;G3XAF0	.;.;.	S	224;131;224;178;229	ENSP00000354943:Y224S;ENSP00000340543:Y131S;ENSP00000288955:Y224S;ENSP00000348333:Y178S;ENSP00000236255:Y229S	ENSP00000236255:Y229S	Y	+	2	0	GRHL3	24536213	0.989000	0.36119	0.998000	0.56505	0.893000	0.52053	3.424000	0.52764	2.324000	0.78689	0.533000	0.62120	TAC		0.562	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		6	72	0	0	0	0	6	72				
KIAA1522	57648	broad.mit.edu	37	1	33235953	33235953	+	Silent	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:33235953C>T	ENST00000373480.1	+	6	1099	c.996C>T	c.(994-996)cgC>cgT	p.R332R	KIAA1522_ENST00000401073.2_Silent_p.R391R|KIAA1522_ENST00000373481.3_Silent_p.R343R|KIAA1522_ENST00000294521.3_Intron	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	332	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCTCAGTCCGCTCGCTGGGGC	0.687																																						uc001bvv.2		NA																	0					0						c.(994-996)CGC>CGT		hypothetical protein LOC57648							18.0	21.0	20.0					1																	33235953		2108	4230	6338	SO:0001819	synonymous_variant	57648							g.chr1:33235953C>T	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.996C>T	1.37:g.33235953C>T						KIAA1522_uc001bvu.1_Silent_p.R391R|KIAA1522_uc010ohm.1_Silent_p.R343R|KIAA1522_uc010ohn.1_Intron	p.R332R	NM_020888	NP_065939	Q9P206	K1522_HUMAN			6	1132	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	332			Ser-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Silent	SNP	ENST00000373480.1	37	c.996C>T	CCDS55588.1																																																																																				0.687	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			17	44	0	0	0	0	17	44				
RABGGTB	5876	broad.mit.edu	37	1	76260255	76260255	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:76260255A>G	ENST00000319942.3	+	9	987	c.916A>G	c.(916-918)Att>Gtt	p.I306V	MSH4_ENST00000263187.3_5'Flank|RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000535300.1_Missense_Mutation_p.I132V	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	306					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						AGAAGAACAGATTAAACCTGT	0.353																																						uc001dgy.1		NA																	0				ovary(1)	1						c.(916-918)ATT>GTT		RAB geranylgeranyltransferase, beta subunit							116.0	118.0	117.0					1																	76260255		2203	4300	6503	SO:0001583	missense	5876				protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity	g.chr1:76260255A>G	U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.916A>G	1.37:g.76260255A>G	ENSP00000317473:p.Ile306Val					MSH4_uc001dhd.1_5'Flank|RABGGTB_uc009wbt.1_RNA|RABGGTB_uc001dha.1_Missense_Mutation_p.D261G|RABGGTB_uc001dhc.1_RNA	p.I306V	NM_004582	NP_004573	P53611	PGTB2_HUMAN			9	987	+			306					Q92697	Missense_Mutation	SNP	ENST00000319942.3	37	c.916A>G	CCDS669.1	.	.	.	.	.	.	.	.	.	.	A	12.80	2.047293	0.36085	.	.	ENSG00000137955	ENST00000535300;ENST00000319942	T;T	0.41065	1.01;1.01	5.55	2.01	0.26516	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.158434	0.56097	D	0.000024	T	0.12050	0.0293	N	0.21617	0.685	0.46954	D	0.999267	B	0.02656	0.0	B	0.08055	0.003	T	0.05801	-1.0863	10	0.34782	T	0.22	-18.307	8.8873	0.35411	0.7867:0.0:0.2133:0.0	.	306	P53611	PGTB2_HUMAN	V	132;306	ENSP00000440452:I132V;ENSP00000317473:I306V	ENSP00000317473:I306V	I	+	1	0	RABGGTB	76032843	1.000000	0.71417	0.927000	0.36925	0.928000	0.56348	4.335000	0.59298	0.488000	0.27723	0.460000	0.39030	ATT		0.353	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026972.1	NM_004582		65	123	0	0	0	0	65	123				
C1orf110	339512	broad.mit.edu	37	1	162824983	162824983	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:162824983C>A	ENST00000367910.1	-	4	601	c.481G>T	c.(481-483)Gat>Tat	p.D161Y	C1orf110_ENST00000367912.2_Missense_Mutation_p.D160Y|C1orf110_ENST00000367911.2_Missense_Mutation_p.D156Y|C1orf110_ENST00000524691.1_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	161								p.D161N(1)		endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						TTCACAGAATCTTTCTCTTGG	0.468																																						uc001gck.2		NA																	1	Substitution - Missense(1)		kidney(1)		0						c.(481-483)GAT>TAT		hypothetical protein LOC339512							263.0	252.0	256.0					1																	162824983		1905	4129	6034	SO:0001583	missense	339512							g.chr1:162824983C>A	BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860			28736	protein-coding gene	gene with protein product						12477932	Standard	NM_178550		Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.481G>T	1.37:g.162824983C>A	ENSP00000356886:p.Asp161Tyr					C1orf110_uc009wuw.1_Intron|C1orf110_uc009wux.1_Missense_Mutation_p.D160Y	p.D161Y	NM_178550	NP_848645	Q86UF4	CA110_HUMAN			4	656	-			161					Q5JSG1|Q6ZW57	Missense_Mutation	SNP	ENST00000367910.1	37	c.481G>T	CCDS44269.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.594243	0.46214	.	.	ENSG00000185860	ENST00000367912;ENST00000367911;ENST00000367910	.	.	.	4.22	2.32	0.28847	.	1.170210	0.06261	N	0.693865	T	0.13457	0.0326	L	0.27053	0.805	0.30454	N	0.7750049999999999	B;B	0.15473	0.013;0.013	B;B	0.17433	0.018;0.018	T	0.27226	-1.0080	8	0.72032	D	0.01	-2.3888	4.67	0.12683	0.2176:0.6716:0.0:0.1108	.	160;161	Q86UF4-2;Q86UF4	.;CA110_HUMAN	Y	160;156;161	.	ENSP00000356886:D161Y	D	-	1	0	C1orf110	161091607	0.000000	0.05858	0.003000	0.11579	0.131000	0.20780	0.463000	0.21972	1.091000	0.41335	0.655000	0.94253	GAT		0.468	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	NM_178550		146	580	1	0	3.51e-50	4.06e-50	146	580				
F5	2153	broad.mit.edu	37	1	169529961	169529961	+	Silent	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:169529961G>A	ENST00000367797.3	-	4	618	c.417C>T	c.(415-417)gaC>gaT	p.D139D	F5_ENST00000546081.1_Silent_p.D2D|F5_ENST00000367796.3_Silent_p.D139D	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	139	F5/8 type A 1.|Plastocyanin-like 1.				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)	CCACAGCGTCGTCCATCTTCT	0.517																																						uc001ggg.1		NA																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(415-417)GAC>GAT		coagulation factor V precursor	Drotrecogin alfa(DB00055)						148.0	124.0	132.0					1																	169529961		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169529961G>A	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.417C>T	1.37:g.169529961G>A						F5_uc010plr.1_RNA	p.D139D	NM_000130	NP_000121	P12259	FA5_HUMAN			4	562	-	all_hematologic(923;0.208)		139			F5/8 type A 1.|Plastocyanin-like 1.	Calcium (By similarity).	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.417C>T	CCDS1281.1																																																																																				0.517	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		76	147	0	0	0	0	76	147				
TNN	63923	broad.mit.edu	37	1	175086194	175086194	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:175086194G>A	ENST00000239462.4	+	10	2352	c.2239G>A	c.(2239-2241)Gac>Aac	p.D747N		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	747	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTCTGCCAAGGACGGAGAGAC	0.642																																						uc001gkl.1		NA																	0				large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(2239-2241)GAC>AAC		tenascin N precursor							88.0	83.0	85.0					1																	175086194		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175086194G>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2239G>A	1.37:g.175086194G>A	ENSP00000239462:p.Asp747Asn						p.D747N	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	10	2352	+		Breast(1374;0.000962)	747			Fibronectin type-III 6.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.2239G>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618169	0.66787	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.57752	0.38	5.37	5.37	0.77165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.342457	0.30901	N	0.008645	T	0.73799	0.3633	M	0.79693	2.465	0.54753	D	0.999985	D	0.89917	1.0	D	0.97110	1.0	T	0.72776	-0.4191	10	0.36615	T	0.2	.	17.2488	0.87035	0.0:0.0:1.0:0.0	.	747	Q9UQP3	TENN_HUMAN	N	747;570	ENSP00000239462:D747N	ENSP00000239462:D747N	D	+	1	0	TNN	173352817	1.000000	0.71417	0.040000	0.18447	0.077000	0.17291	5.652000	0.67959	2.677000	0.91161	0.655000	0.94253	GAC		0.642	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		84	143	0	0	0	0	84	143				
GPR37L1	9283	broad.mit.edu	37	1	202092540	202092540	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:202092540C>T	ENST00000367282.5	+	1	555	c.449C>T	c.(448-450)tCg>tTg	p.S150L		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	150					negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						GGCAACCTGTCGGTCATGTGC	0.572																																						uc001gxj.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(448-450)TCG>TTG		G-protein coupled receptor 37 like 1 precursor							181.0	132.0	149.0					1																	202092540		2203	4300	6503	SO:0001583	missense	9283					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr1:202092540C>T	AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"""GPCR / Class A : Orphans"""	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.449C>T	1.37:g.202092540C>T	ENSP00000356251:p.Ser150Leu						p.S150L	NM_004767	NP_004758	O60883	ETBR2_HUMAN			1	512	+			150			Helical; Name=1; (Potential).		B2R7M9|Q5SXP7|Q86VP7	Missense_Mutation	SNP	ENST00000367282.5	37	c.449C>T	CCDS1420.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863847	0.71949	.	.	ENSG00000170075	ENST00000541334;ENST00000367282	T	0.62364	0.03	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.225948	0.38005	N	0.001841	T	0.41119	0.1145	N	0.05124	-0.11	0.58432	D	0.999999	B	0.16166	0.016	B	0.20767	0.031	T	0.35599	-0.9782	10	0.08837	T	0.75	-10.8743	17.9179	0.88957	0.0:1.0:0.0:0.0	.	150	O60883	ETBR2_HUMAN	L	17;150	ENSP00000356251:S150L	ENSP00000356251:S150L	S	+	2	0	GPR37L1	200359163	1.000000	0.71417	0.993000	0.49108	0.915000	0.54546	7.811000	0.86092	2.310000	0.77875	0.462000	0.41574	TCG		0.572	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2	NM_004767		50	64	0	0	0	0	50	64				
PDZD8	118987	broad.mit.edu	37	10	119100522	119100522	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr10:119100522G>A	ENST00000334464.5	-	2	1203	c.964C>T	c.(964-966)Cgt>Tgt	p.R322C		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	322					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		ACTTTAAGACGGCCTTCAGTA	0.378																																						uc001lde.1		NA																	0					0						c.(964-966)CGT>TGT		PDZ domain containing 8							179.0	152.0	161.0					10																	119100522		2203	4300	6503	SO:0001583	missense	118987				intracellular signal transduction		metal ion binding	g.chr10:119100522G>A	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.964C>T	10.37:g.119100522G>A	ENSP00000334642:p.Arg322Cys						p.R322C	NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	2	1163	-		Colorectal(252;0.19)	322					Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	c.964C>T	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148284	0.78001	.	.	ENSG00000165650	ENST00000334464	D	0.87103	-2.21	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.92021	0.7472	L	0.57536	1.79	0.54753	D	0.999989	D	0.89917	1.0	D	0.85130	0.997	D	0.92222	0.5785	10	0.87932	D	0	-10.5689	15.6304	0.76904	0.0:0.0:1.0:0.0	.	322	Q8NEN9	PDZD8_HUMAN	C	322	ENSP00000334642:R322C	ENSP00000334642:R322C	R	-	1	0	PDZD8	119090512	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.181000	0.65054	2.837000	0.97791	0.591000	0.81541	CGT		0.378	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		3	75	0	0	0	0	3	75				
GPR26	2849	broad.mit.edu	37	10	125426383	125426383	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr10:125426383G>A	ENST00000284674.1	+	1	513	c.460G>A	c.(460-462)Gcc>Acc	p.A154T		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	154					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CCAGCTGTACGCCTCGTGCAC	0.701																																						uc001lhh.2		NA																	0				skin(1)	1						c.(460-462)GCC>ACC		G protein-coupled receptor 26							14.0	14.0	14.0					10																	125426383		2197	4293	6490	SO:0001583	missense	2849				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:125426383G>A		CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"""GPCR / Class A : Orphans"""	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.460G>A	10.37:g.125426383G>A	ENSP00000284674:p.Ala154Thr						p.A154T	NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN			1	513	+		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)	154			Extracellular (Potential).		Q2M2E2	Missense_Mutation	SNP	ENST00000284674.1	37	c.460G>A	CCDS7636.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474860	0.84640	.	.	ENSG00000154478	ENST00000284674	T	0.71461	-0.57	4.01	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.064498	0.64402	D	0.000009	T	0.81664	0.4870	M	0.85197	2.74	0.80722	D	1	D	0.58970	0.984	P	0.55345	0.774	D	0.84295	0.0502	10	0.42905	T	0.14	-27.4494	16.3104	0.82865	0.0:0.0:1.0:0.0	.	154	Q8NDV2	GPR26_HUMAN	T	154	ENSP00000284674:A154T	ENSP00000284674:A154T	A	+	1	0	GPR26	125416373	1.000000	0.71417	0.998000	0.56505	0.500000	0.33767	9.502000	0.97981	2.063000	0.61619	0.650000	0.86243	GCC		0.701	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1			8	14	0	0	0	0	8	14				
OR8J3	81168	broad.mit.edu	37	11	55904719	55904719	+	Missense_Mutation	SNP	A	A	T	rs374675673		TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr11:55904719A>T	ENST00000301529.1	-	1	475	c.476T>A	c.(475-477)gTt>gAt	p.V159D		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	159						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(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ACAAGGTGAAACCACAATAGC	0.423																																						uc010riz.1		NA																	0				skin(2)	2						c.(475-477)GTT>GAT		olfactory receptor, family 8, subfamily J,							95.0	92.0	93.0					11																	55904719		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904719A>T		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.476T>A	11.37:g.55904719A>T	ENSP00000301529:p.Val159Asp						p.V159D	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	476	-	Esophageal squamous(21;0.00693)		159			Helical; Name=4; (Potential).		Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.476T>A	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	A	17.50	3.405818	0.62288	.	.	ENSG00000167822	ENST00000301529	T	0.00123	8.7	3.26	-2.82	0.05787	GPCR, rhodopsin-like superfamily (1);	0.323395	0.26265	N	0.025366	T	0.00210	0.0006	L	0.39147	1.195	0.09310	N	1	P	0.45827	0.867	P	0.60609	0.877	T	0.50783	-0.8787	10	0.72032	D	0.01	.	4.3793	0.11286	0.272:0.0:0.4379:0.29	.	159	Q8NGG0	OR8J3_HUMAN	D	159	ENSP00000301529:V159D	ENSP00000301529:V159D	V	-	2	0	OR8J3	55661295	0.000000	0.05858	0.000000	0.03702	0.812000	0.45895	-0.051000	0.11885	-0.117000	0.11872	0.240000	0.17902	GTT		0.423	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		5	163	0	0	0	0	5	163				
ZFP91	80829	broad.mit.edu	37	11	58384695	58384695	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr11:58384695G>T	ENST00000316059.6	+	11	1400	c.1229G>T	c.(1228-1230)cGa>cTa	p.R410L	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.R410L	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	410					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TTTACTTGTCGACAAAAGGCA	0.398																																						uc001nmx.3		NA																	0				ovary(1)	1						c.(1228-1230)CGA>CTA		zinc finger protein 91							99.0	95.0	96.0					11																	58384695		2201	4295	6496	SO:0001583	missense	80829				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:58384695G>T	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1229G>T	11.37:g.58384695G>T	ENSP00000339030:p.Arg410Leu					ZFP91_uc001nmy.3_Missense_Mutation_p.R409L|ZFP91-CNTF_uc010rkm.1_RNA	p.R410L	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN			11	1397	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	410			C2H2-type 4.		A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	37	c.1229G>T	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267410	0.80469	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.60040	0.22	5.92	5.92	0.95590	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.078293	0.50627	D	0.000107	T	0.66436	0.2789	N	0.25060	0.705	0.58432	D	0.999999	D;D	0.71674	0.998;0.994	D;D	0.80764	0.994;0.961	T	0.68723	-0.5333	10	0.66056	D	0.02	-8.155	19.1058	0.93294	0.0:0.0:1.0:0.0	.	410;410	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	L	410	ENSP00000339030:R410L	ENSP00000374569:R410L	R	+	2	0	ZFP91	58141271	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.822000	0.97130	0.650000	0.86243	CGA		0.398	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		54	121	1	0	5.67e-16	6.36e-16	54	121				
SCYL1	57410	broad.mit.edu	37	11	65298219	65298219	+	Silent	SNP	C	C	T	rs555597732		TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr11:65298219C>T	ENST00000270176.5	+	7	1046	c.969C>T	c.(967-969)ttC>ttT	p.F323F	SCYL1_ENST00000524944.1_Silent_p.F323F|SCYL1_ENST00000525364.1_Silent_p.F323F|SCYL1_ENST00000279270.6_Silent_p.F323F|SCYL1_ENST00000527009.1_Silent_p.F180F|SCYL1_ENST00000420247.2_Silent_p.F323F|SCYL1_ENST00000533862.1_Silent_p.F323F	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	323					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						CCTTCGAGTTCGGCAATGCTG	0.587																																						uc001oea.1		NA																	0				skin(1)	1						c.(967-969)TTC>TTT		SCY1-like 1 isoform A							62.0	66.0	65.0					11																	65298219		1975	4135	6110	SO:0001819	synonymous_variant	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65298219C>T	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.969C>T	11.37:g.65298219C>T						SCYL1_uc009yqk.2_Silent_p.F323F|SCYL1_uc001oeb.1_Silent_p.F323F|SCYL1_uc001oec.1_Silent_p.F323F|SCYL1_uc001oed.1_Silent_p.F180F|SCYL1_uc001oee.1_5'UTR	p.F323F	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN			7	1046	+			323					A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Silent	SNP	ENST00000270176.5	37	c.969C>T	CCDS41672.1																																																																																				0.587	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		30	149	0	0	0	0	30	149				
DYNC2H1	79659	broad.mit.edu	37	11	102987416	102987416	+	Nonsense_Mutation	SNP	C	C	T	rs561778796		TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr11:102987416C>T	ENST00000375735.2	+	5	883	c.739C>T	c.(739-741)Cga>Tga	p.R247*	DYNC2H1_ENST00000334267.7_Nonsense_Mutation_p.R247*|DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.R247*	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	247	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCCTGAGTCACGAATGTTGCA	0.348													C|||	1	0.000199681	0.0	0.0	5008	,	,		13627	0.001		0.0	False		,,,				2504	0.0					uc001pho.2		NA																	0					0						c.(739-741)CGA>TGA		dynein, cytoplasmic 2, heavy chain 1							205.0	196.0	199.0					11																	102987416		1882	4113	5995	SO:0001587	stop_gained	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:102987416C>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.739C>T	11.37:g.102987416C>T	ENSP00000364887:p.Arg247*					DYNC2H1_uc001phn.1_Nonsense_Mutation_p.R247*|DYNC2H1_uc009yxe.1_Nonsense_Mutation_p.R247*	p.R247*	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	5	883	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	247			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Nonsense_Mutation	SNP	ENST00000375735.2	37	c.739C>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	38	6.898285	0.97920	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	.	.	.	5.49	5.49	0.81192	.	0.636430	0.11876	U	0.521016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3705	0.94481	0.0:1.0:0.0:0.0	.	.	.	.	X	247	.	ENSP00000334021:R247X	R	+	1	2	DYNC2H1	102492626	1.000000	0.71417	0.993000	0.49108	0.946000	0.59487	5.746000	0.68681	2.567000	0.86603	0.650000	0.86243	CGA		0.348	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		25	210	0	0	0	0	25	210				
PRB3	5544	broad.mit.edu	37	12	11420570	11420570	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr12:11420570C>A	ENST00000279573.7	-	3	748	c.613G>T	c.(613-615)Gaa>Taa	p.E205*	PRB3_ENST00000381842.3_Intron|PRB3_ENST00000538488.1_Nonsense_Mutation_p.E184*|PRB3_ENST00000440870.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	205	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).		defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGTGGTCCTTCTGGCTTTCCC	0.632																																						uc001qzs.2		NA																	0				skin(1)	1						c.(613-615)GAA>TAA		proline-rich protein BstNI subfamily 3							67.0	93.0	85.0					12																	11420570		1593	3625	5218	SO:0001587	stop_gained	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420570C>A			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.613G>T	12.37:g.11420570C>A	ENSP00000279573:p.Glu205*					PRB4_uc001qzf.1_Intron	p.E205*	NM_006249	NP_006240	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		3	651	-			205		Missing (in allele S).	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|8.|Pro-rich.		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Nonsense_Mutation	SNP	ENST00000279573.7	37	c.613G>T		.	.	.	.	.	.	.	.	.	.	.	10.18	1.280212	0.23392	.	.	ENSG00000197870	ENST00000538488	.	.	.	1.19	-1.63	0.08345	.	0.270744	0.16230	U	0.223636	.	.	.	.	.	.	0.46131	A	0.998888	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	6.1402	0.20255	0.0:0.6418:0.0:0.3582	.	.	.	.	X	184	.	ENSP00000279573:E205X	E	-	1	0	PRB3	11311837	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	-1.496000	0.02291	-0.445000	0.07159	0.134000	0.15878	GAA		0.632	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		57	331	1	0	2.77e-52	3.23e-52	57	331				
DENND5B	160518	broad.mit.edu	37	12	31586167	31586167	+	Silent	SNP	C	C	G			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr12:31586167C>G	ENST00000389082.5	-	8	2292	c.2028G>C	c.(2026-2028)cgG>cgC	p.R676R	DENND5B_ENST00000354285.4_Silent_p.R698R|DENND5B_ENST00000306833.6_Silent_p.R711R|DENND5B_ENST00000536562.1_Silent_p.R711R	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	676					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						CAGTGGCACTCCGACTTACCC	0.448																																						uc001rki.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2026-2028)CGG>CGC		DENN/MADD domain containing 5B							149.0	156.0	154.0					12																	31586167		2113	4242	6355	SO:0001819	synonymous_variant	160518					integral to membrane		g.chr12:31586167C>G	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.2028G>C	12.37:g.31586167C>G						DENND5B_uc001rkh.1_Silent_p.R711R|DENND5B_uc009zjq.1_Intron|DENND5B_uc001rkj.2_Silent_p.R698R	p.R676R	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN			8	2214	-			676					B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Silent	SNP	ENST00000389082.5	37	c.2028G>C	CCDS44857.1																																																																																				0.448	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		5	274	0	0	0	0	5	274				
KDELC1	79070	broad.mit.edu	37	13	103441563	103441563	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr13:103441563A>C	ENST00000376004.4	-	7	1428	c.1092T>G	c.(1090-1092)taT>taG	p.Y364*	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	364						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TATTTATTTGATACTTATGCT	0.393																																						uc001vpq.3		NA																	0				ovary(1)	1						c.(1090-1092)TAT>TAG		KDEL (Lys-Asp-Glu-Leu) containing 1 precursor							79.0	79.0	79.0					13																	103441563		2203	4300	6503	SO:0001587	stop_gained	79070					endoplasmic reticulum lumen		g.chr13:103441563A>C	BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.1092T>G	13.37:g.103441563A>C	ENSP00000365172:p.Tyr364*					KDELC1_uc001vpr.3_Nonsense_Mutation_p.Y145*	p.Y364*	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN			7	1476	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		364					Q53HL3|Q9BVD2	Nonsense_Mutation	SNP	ENST00000376004.4	37	c.1092T>G	CCDS9504.1	.	.	.	.	.	.	.	.	.	.	A	38	7.286047	0.98186	.	.	ENSG00000134901	ENST00000376004	.	.	.	5.74	-2.59	0.06209	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2844	0.66235	0.5293:0.0:0.4707:0.0	.	.	.	.	X	364	.	ENSP00000365172:Y364X	Y	-	3	2	KDELC1	102239564	0.294000	0.24380	0.981000	0.43875	0.952000	0.60782	-0.119000	0.10676	-0.348000	0.08286	-0.263000	0.10527	TAT		0.393	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1			4	72	0	0	0	0	4	72				
C14orf37	145407	broad.mit.edu	37	14	58605804	58605804	+	Silent	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr14:58605804C>T	ENST00000267485.7	-	2	467	c.273G>A	c.(271-273)tcG>tcA	p.S91S	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	91						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CTTTGTTAATCGAGAATGCTT	0.488																																						uc001xdc.2		NA																	0					0						c.(271-273)TCG>TCA		hypothetical protein LOC145407 precursor							124.0	123.0	123.0					14																	58605804		2203	4300	6503	SO:0001819	synonymous_variant	145407					integral to membrane	binding	g.chr14:58605804C>T		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.273G>A	14.37:g.58605804C>T						C14orf37_uc010tro.1_Silent_p.S129S|C14orf37_uc001xdd.2_Silent_p.S91S|C14orf37_uc001xde.2_Silent_p.S91S	p.S91S	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN			2	384	-			91			Extracellular (Potential).		A8K8Z8|Q6P5Q1|Q86TY1	Silent	SNP	ENST00000267485.7	37	c.273G>A	CCDS32089.1																																																																																				0.488	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		80	143	0	0	0	0	80	143				
LTBP2	4053	broad.mit.edu	37	14	74968148	74968148	+	Silent	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr14:74968148G>A	ENST00000261978.4	-	35	5702	c.5316C>T	c.(5314-5316)tgC>tgT	p.C1772C	LTBP2_ENST00000556690.1_Silent_p.C1728C	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1772	EGF-like 19; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		ACTTACCTACGCAGGCCATGT	0.607											OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001xqa.2		NA																	0				liver(1)|skin(1)	2						c.(5314-5316)TGC>TGT		latent transforming growth factor beta binding							101.0	102.0	102.0					14																	74968148		2203	4300	6503	SO:0001819	synonymous_variant	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74968148G>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.5316C>T	14.37:g.74968148G>A			OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1156		p.C1772C	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	35	5703	-			1772			EGF-like 19; calcium-binding (Potential).		Q99907|Q9NS51	Silent	SNP	ENST00000261978.4	37	c.5316C>T	CCDS9831.1																																																																																				0.607	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		100	165	0	0	0	0	100	165				
OR4M2	390538	broad.mit.edu	37	15	22369030	22369030	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr15:22369030G>C	ENST00000332663.2	+	1	553	c.455G>C	c.(454-456)gGc>gCc	p.G152A	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGGAGGGGGGGCTTCATTCAT	0.502																																						uc010tzu.1		NA																	0				ovary(1)	1						c.(454-456)GGC>GCC		olfactory receptor, family 4, subfamily M,							330.0	280.0	297.0					15																	22369030		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369030G>C	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.455G>C	15.37:g.22369030G>C	ENSP00000329467:p.Gly152Ala					LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.G152A	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	455	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	152			Helical; Name=4; (Potential).		B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.455G>C	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	9.930	1.214647	0.22289	.	.	ENSG00000182974	ENST00000332663	T	0.35421	1.31	2.5	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000106	T	0.58090	0.2098	M	0.82056	2.57	0.22050	N	0.999398	D	0.89917	1.0	D	0.97110	1.0	T	0.48091	-0.9065	10	0.66056	D	0.02	-9.2657	10.8078	0.46529	0.0:0.0:1.0:0.0	.	152	Q8NGB6	OR4M2_HUMAN	A	152	ENSP00000329467:G152A	ENSP00000329467:G152A	G	+	2	0	OR4M2	19870394	0.092000	0.21681	0.976000	0.42696	0.230000	0.25150	1.090000	0.30902	1.422000	0.47177	0.448000	0.29417	GGC		0.502	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			73	382	0	0	0	0	73	382				
RTF1	23168	broad.mit.edu	37	15	41769670	41769670	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr15:41769670G>A	ENST00000389629.4	+	14	1709	c.1697G>A	c.(1696-1698)cGg>cAg	p.R566Q		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	566					DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		ATCAACCAGCGGAACCGGGAG	0.453																																						uc001zny.2		NA																	0				ovary(2)	2						c.(1696-1698)CGG>CAG		Paf1/RNA polymerase II complex component							117.0	110.0	113.0					15																	41769670		2203	4300	6503	SO:0001583	missense	23168				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	g.chr15:41769670G>A	D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1697G>A	15.37:g.41769670G>A	ENSP00000374280:p.Arg566Gln						p.R566Q	NM_015138	NP_055953	Q92541	RTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)	14	1709	+		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	566					Q96BX6	Missense_Mutation	SNP	ENST00000389629.4	37	c.1697G>A	CCDS32200.2	.	.	.	.	.	.	.	.	.	.	G	35	5.570119	0.96540	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.78046	0.4222	M	0.76727	2.345	0.80722	D	1	D	0.64830	0.994	P	0.61201	0.885	T	0.79485	-0.1784	9	0.62326	D	0.03	-10.5344	19.1936	0.93677	0.0:0.0:1.0:0.0	.	566	Q92541	RTF1_HUMAN	Q	566	.	ENSP00000374280:R566Q	R	+	2	0	RTF1	39556962	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.146000	0.94640	2.770000	0.95276	0.563000	0.77884	CGG		0.453	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		36	115	0	0	0	0	36	115				
THAP10	56906	broad.mit.edu	37	15	71175199	71175199	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr15:71175199G>C	ENST00000249861.4	-	2	990	c.478C>G	c.(478-480)Cca>Gca	p.P160A	LRRC49_ENST00000544974.2_Intron	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	160							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GTATTAGATGGATTATCAGCA	0.393																																						uc002asv.2		NA																	0				ovary(1)|skin(1)	2						c.(478-480)CCA>GCA		THAP domain containing 10							145.0	141.0	143.0					15																	71175199		2199	4297	6496	SO:0001583	missense	56906						DNA binding|metal ion binding	g.chr15:71175199G>C	AL360202	CCDS10237.1	15q22.32	2013-01-25			ENSG00000129028	ENSG00000129028		"""THAP (C2CH-type zinc finger) domain containing"""	23193	protein-coding gene	gene with protein product		612538				12575992	Standard	NM_020147		Approved		uc002asv.3	Q9P2Z0	OTTHUMG00000133388	ENST00000249861.4:c.478C>G	15.37:g.71175199G>C	ENSP00000249861:p.Pro160Ala					LRRC49_uc002asu.2_Intron	p.P160A	NM_020147	NP_064532	Q9P2Z0	THA10_HUMAN			2	620	-			160					B2R8R0	Missense_Mutation	SNP	ENST00000249861.4	37	c.478C>G	CCDS10237.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.617149	0.00828	.	.	ENSG00000129028	ENST00000249861	.	.	.	3.24	1.78	0.24846	.	.	.	.	.	T	0.13713	0.0332	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.09377	0.004	T	0.33085	-0.9882	8	0.02654	T	1	.	5.3365	0.15961	0.2315:0.0:0.7685:0.0	.	160	Q9P2Z0	THA10_HUMAN	A	160	.	ENSP00000249861:P160A	P	-	1	0	THAP10	68962253	0.018000	0.18449	0.001000	0.08648	0.002000	0.02628	0.767000	0.26575	0.414000	0.25790	0.557000	0.71058	CCA		0.393	THAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257242.2	NM_020147		29	117	0	0	0	0	29	117				
SLC28A1	9154	broad.mit.edu	37	15	85447466	85447466	+	Silent	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr15:85447466C>T	ENST00000286749.3	+	6	690	c.600C>T	c.(598-600)tgC>tgT	p.C200C	SLC28A1_ENST00000538177.1_Silent_p.C200C|SLC28A1_ENST00000537216.1_Silent_p.C200C|SLC28A1_ENST00000537703.1_Silent_p.C122C|SLC28A1_ENST00000394573.1_Silent_p.C200C|SLC28A1_ENST00000537624.1_Silent_p.C200C			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	200					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	AGCATCATTGCGCAGTGAGTG	0.587																																						uc002blg.2		NA																	0				skin(2)|ovary(1)	3						c.(598-600)TGC>TGT		solute carrier family 28, member 1 isoform 1							134.0	119.0	124.0					15																	85447466		2203	4299	6502	SO:0001819	synonymous_variant	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85447466C>T	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.600C>T	15.37:g.85447466C>T						SLC28A1_uc010upd.1_Silent_p.C122C|SLC28A1_uc010bnb.2_Silent_p.C200C|SLC28A1_uc010upe.1_Silent_p.C200C|SLC28A1_uc010upf.1_Silent_p.C200C|SLC28A1_uc010upg.1_Silent_p.C200C	p.C200C	NM_004213	NP_004204	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		7	802	+			200					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Silent	SNP	ENST00000286749.3	37	c.600C>T	CCDS10334.1																																																																																				0.587	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			83	60	0	0	0	0	83	60				
KLHL25	64410	broad.mit.edu	37	15	86311486	86311486	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr15:86311486G>A	ENST00000337975.5	-	2	1830	c.1556C>T	c.(1555-1557)aCg>aTg	p.T519M	KLHL25_ENST00000536947.1_Missense_Mutation_p.T519M|MIR1276_ENST00000408707.1_RNA|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	519					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CCCAATCCGCGTCCACTGGTT	0.612																																						uc002bly.2		NA																	0				ovary(2)	2						c.(1555-1557)ACG>ATG		BTB/POZ KELCH domain protein							115.0	103.0	107.0					15																	86311486		2202	4299	6501	SO:0001583	missense	64410					cytoplasm		g.chr15:86311486G>A		CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"""Kelch-like"", ""BTB/POZ domain containing"""	25732	protein-coding gene	gene with protein product	"""ectodermal-neural cortex 2"""		"""kelch-like 25 (Drosophila)"""				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.1556C>T	15.37:g.86311486G>A	ENSP00000336800:p.Thr519Met						p.T519M	NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN			2	1759	-			519			Kelch 5.		B2RDH2|B3KRT7	Missense_Mutation	SNP	ENST00000337975.5	37	c.1556C>T	CCDS10339.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764311	0.69878	.	.	ENSG00000183655	ENST00000337975;ENST00000538153;ENST00000536947	T;T	0.79033	-1.23;-1.23	5.55	5.55	0.83447	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.86268	0.5892	M	0.70108	2.13	0.58432	D	0.999997	D	0.64830	0.994	P	0.61658	0.892	D	0.85517	0.1201	10	0.42905	T	0.14	.	18.4927	0.90853	0.0:0.0:1.0:0.0	.	519	Q9H0H3	ENC2_HUMAN	M	519;488;519	ENSP00000336800:T519M;ENSP00000444739:T519M	ENSP00000336800:T519M	T	-	2	0	KLHL25	84112490	1.000000	0.71417	0.959000	0.39883	0.702000	0.40608	9.863000	0.99569	2.623000	0.88846	0.462000	0.41574	ACG		0.612	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480		29	91	0	0	0	0	29	91				
ZG16B	124220	broad.mit.edu	37	16	2880459	2880459	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr16:2880459C>T	ENST00000382280.3	+	2	204	c.125C>T	c.(124-126)aCg>aTg	p.T42M	ZG16B_ENST00000572863.1_Missense_Mutation_p.T12M	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	42	Poly-Leu.				retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						CTGCTGCTCACGCTTGCCCTC	0.662																																						uc002cru.2		NA																	0				ovary(1)	1						c.(124-126)ACG>ATG		zymogen granule protein 16 homolog B precursor							20.0	25.0	23.0					16																	2880459		2073	4213	6286	SO:0001583	missense	124220					extracellular region	sugar binding	g.chr16:2880459C>T	BC009722	CCDS10479.2	16p13.3	2014-02-12	2012-12-07		ENSG00000162078	ENSG00000162078			30456	protein-coding gene	gene with protein product	"""jacalin-like lectin domain containing 2"""		"""zymogen granule protein 16 homolog B (rat)"""			12477932	Standard	NM_145252		Approved	HRPE773, PRO1567, JCLN2	uc002cru.3	Q96DA0	OTTHUMG00000128933	ENST00000382280.3:c.125C>T	16.37:g.2880459C>T	ENSP00000371715:p.Thr42Met						p.T42M	NM_145252	NP_660295	Q96DA0	ZG16B_HUMAN			2	201	+			42			Poly-Leu.		A6NIY1|B2R4F6|Q6UW28	Missense_Mutation	SNP	ENST00000382280.3	37	c.125C>T	CCDS10479.2	.	.	.	.	.	.	.	.	.	.	c	14.77	2.634807	0.47049	.	.	ENSG00000162078	ENST00000382280	T	0.35605	1.3	3.11	2.15	0.27550	.	.	.	.	.	T	0.45617	0.1351	L	0.43923	1.385	0.21473	N	0.999671	D	0.89917	1.0	D	0.71870	0.975	T	0.15896	-1.0421	9	0.56958	D	0.05	-25.0543	5.9001	0.18962	0.0:0.856:0.0:0.144	.	42	Q96DA0	ZG16B_HUMAN	M	42	ENSP00000371715:T42M	ENSP00000371715:T42M	T	+	2	0	ZG16B	2820460	0.000000	0.05858	0.781000	0.31783	0.089000	0.18198	0.312000	0.19397	0.880000	0.35969	0.556000	0.70494	ACG		0.662	ZG16B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250912.1	NM_145252		14	14	0	0	0	0	14	14				
VASN	114990	broad.mit.edu	37	16	4432462	4432462	+	Silent	SNP	C	C	T	rs370628475		TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr16:4432462C>T	ENST00000304735.3	+	2	1739	c.1584C>T	c.(1582-1584)aaC>aaT	p.N528N	CORO7_ENST00000423908.2_Intron|CORO7_ENST00000251166.4_Intron|CORO7_ENST00000537233.2_Intron|CORO7_ENST00000539968.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000574025.1_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	528	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|cellular response to redox state (GO:0071461)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	transforming growth factor beta binding (GO:0050431)			breast(1)|lung(3)|prostate(1)|skin(1)	6						TGCGGCCCAACGCCACTTACT	0.677																																						uc002cwj.1		NA																	0					0						c.(1582-1584)AAC>AAT		slit-like 2 precursor		C	,,,,	0,4372		0,0,2186	14.0	17.0	16.0		,,,,1584	-10.2	0.4	16		16	1,8587		0,1,4293	no	intron,intron,intron,intron,coding-synonymous	CORO7,VASN,CORO7-PAM16	NM_001201472.1,NM_001201473.1,NM_001201479.1,NM_024535.4,NM_138440.2	,,,,	0,1,6479	TT,TC,CC		0.0116,0.0,0.0077	,,,,	,,,,528/674	4432462	1,12959	2186	4294	6480	SO:0001819	synonymous_variant	114990					extracellular region|integral to membrane		g.chr16:4432462C>T	AY358299	CCDS10514.1	16p13.3	2008-02-05	2006-03-30	2006-03-30	ENSG00000168140	ENSG00000168140			18517	protein-coding gene	gene with protein product		608843	"""slit-like 2 (Drosophila)"""	SLITL2		15247411	Standard	NM_138440		Approved		uc002cwj.1	Q6EMK4	OTTHUMG00000129469	ENST00000304735.3:c.1584C>T	16.37:g.4432462C>T						CORO7_uc002cwe.2_Intron|CORO7_uc002cwf.2_Intron|CORO7_uc002cwg.3_Intron|CORO7_uc002cwh.3_Intron|CORO7_uc010uxh.1_Intron|CORO7_uc010uxi.1_Intron|CORO7_uc002cwi.1_Intron|CORO7_uc010uxj.1_Intron|CORO7_uc010btp.1_Intron	p.N528N	NM_138440	NP_612449	Q6EMK4	VASN_HUMAN			2	1739	+			528			Fibronectin type-III.|Extracellular (Potential).		Q6UXL4|Q6UXL5|Q96CX1	Silent	SNP	ENST00000304735.3	37	c.1584C>T	CCDS10514.1																																																																																				0.677	VASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251632.1	NM_138440		10	9	0	0	0	0	10	9				
CLEC16A	23274	broad.mit.edu	37	16	11114077	11114077	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr16:11114077G>A	ENST00000409790.1	+	12	1561	c.1331G>A	c.(1330-1332)aGc>aAc	p.S444N	CLEC16A_ENST00000409552.3_Missense_Mutation_p.S426N	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ATGGAGCGTAGCAAGCTCTCA	0.557																																						uc002dao.2		NA																	1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	ovary(1)|central_nervous_system(1)	2						c.(1330-1332)AGC>AAC		C-type lectin domain family 16, member A							39.0	42.0	41.0					16																	11114077		1981	4173	6154	SO:0001583	missense	23274							g.chr16:11114077G>A	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1331G>A	16.37:g.11114077G>A	ENSP00000387122:p.Ser444Asn					CLEC16A_uc002dan.3_Missense_Mutation_p.S426N	p.S444N	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN			12	1561	+			444						Missense_Mutation	SNP	ENST00000409790.1	37	c.1331G>A	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.309211	0.60414	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.45276	0.9	5.24	5.24	0.73138	.	0.180157	0.64402	D	0.000010	T	0.34513	0.0900	L	0.36672	1.1	0.80722	D	1	B;B	0.25351	0.072;0.124	B;B	0.29267	0.042;0.1	T	0.10132	-1.0643	10	0.18276	T	0.48	-12.9331	14.3515	0.66705	0.0:0.0:1.0:0.0	.	444;426	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	N	444;444;426	ENSP00000387122:S444N	ENSP00000386495:S426N	S	+	2	0	CLEC16A	11021578	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.569000	0.67391	2.445000	0.82738	0.561000	0.74099	AGC		0.557	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		25	58	0	0	0	0	25	58				
MYH11	4629	broad.mit.edu	37	16	15870006	15870006	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr16:15870006C>T	ENST00000300036.5	-	8	927	c.818G>A	c.(817-819)cGc>cAc	p.R273H	MYH11_ENST00000396324.3_Missense_Mutation_p.R280H|MYH11_ENST00000576790.2_Missense_Mutation_p.R273H|MYH11_ENST00000452625.2_Missense_Mutation_p.R280H	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	273	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCTGGCTTGGCGAATTGCCCG	0.488			T	CBFB	AML																																	uc002ddy.2		NA		Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(817-819)CGC>CAC		smooth muscle myosin heavy chain 11 isoform							314.0	287.0	296.0					16																	15870006		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15870006C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.818G>A	16.37:g.15870006C>T	ENSP00000300036:p.Arg273His					MYH11_uc002ddv.2_Missense_Mutation_p.R280H|MYH11_uc002ddw.2_Missense_Mutation_p.R273H|MYH11_uc002ddx.2_Missense_Mutation_p.R280H|MYH11_uc010bvg.2_Missense_Mutation_p.R105H|MYH11_uc002dea.1_5'UTR	p.R273H	NM_002474	NP_002465	P35749	MYH11_HUMAN			8	925	-			273			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.818G>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	33	5.232322	0.95207	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28	5.9	5.9	0.94986	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.92652	0.7665	M	0.67397	2.05	0.80722	D	1	D;D;B;D;B	0.71674	0.989;0.998;0.235;0.998;0.007	D;D;B;D;B	0.67900	0.954;0.926;0.051;0.926;0.12	D	0.92488	0.5998	10	0.62326	D	0.03	.	18.8389	0.92174	0.0:1.0:0.0:0.0	.	280;273;280;273;280	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	H	273;273;280;280;280	ENSP00000300036:R273H;ENSP00000345136:R273H;ENSP00000379616:R280H;ENSP00000407821:R280H	ENSP00000300036:R273H	R	-	2	0	MYH11	15777507	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	5.830000	0.69324	2.800000	0.96347	0.455000	0.32223	CGC		0.488	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		118	232	0	0	0	0	118	232				
PALB2	79728	broad.mit.edu	37	16	23646536	23646536	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr16:23646536T>C	ENST00000261584.4	-	4	1483	c.1331A>G	c.(1330-1332)aAt>aGt	p.N444S		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	444	ChAM (Chromatin-association motif); required for chromatin association, mediates nucleosome association.|DNA-binding (with the preference D loop > dsDNA > ssDNA).				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TGCATCCTTATTTTTATTTTT	0.393			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														uc002dlx.1		NA	yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	F|N|Mis	partner and localizer of BRCA2			"""L, O, E"""		Wilms tumor|medulloblastoma|AML ,breast			0				lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11						c.(1330-1332)AAT>AGT	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	partner and localizer of BRCA2							60.0	65.0	63.0					16																	23646536		2192	4299	6491	SO:0001583	missense	79728	Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of			double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23646536T>C		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.1331A>G	16.37:g.23646536T>C	ENSP00000261584:p.Asn444Ser						p.N444S	NM_024675	NP_078951	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	4	1531	-			444					A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	c.1331A>G	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	T	9.138	1.013199	0.19277	.	.	ENSG00000083093	ENST00000261584	T	0.14022	2.54	4.7	-9.27	0.00659	.	1.585020	0.03355	N	0.196761	T	0.04497	0.0123	N	0.11560	0.145	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.32771	-0.9894	10	0.11794	T	0.64	0.1551	1.3571	0.02184	0.3141:0.3236:0.2124:0.1499	.	444	Q86YC2	PALB2_HUMAN	S	444	ENSP00000261584:N444S	ENSP00000261584:N444S	N	-	2	0	PALB2	23554037	0.000000	0.05858	0.034000	0.17996	0.892000	0.51952	-2.376000	0.01070	-1.306000	0.02324	0.460000	0.39030	AAT		0.393	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		75	139	0	0	0	0	75	139				
TNRC6A	27327	broad.mit.edu	37	16	24834933	24834933	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr16:24834933T>A	ENST00000395799.3	+	25	5823	c.5694T>A	c.(5692-5694)aaT>aaA	p.N1898K	TNRC6A_ENST00000315183.7_Missense_Mutation_p.N1849K|TNRC6A_ENST00000432286.2_Missense_Mutation_p.N376K	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1898	Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|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)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CCGATCTCAATCACTGGAATG	0.622																																						uc002dmm.2		NA																	0				ovary(2)	2						c.(5692-5694)AAT>AAA		trinucleotide repeat containing 6A							115.0	114.0	115.0					16																	24834933		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24834933T>A	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.5694T>A	16.37:g.24834933T>A	ENSP00000379144:p.Asn1898Lys					TNRC6A_uc010bxs.2_Missense_Mutation_p.N1645K|TNRC6A_uc002dmn.2_Missense_Mutation_p.N1596K|TNRC6A_uc002dmo.2_Missense_Mutation_p.N1537K|TNRC6A_uc002dmr.2_Missense_Mutation_p.N97K	p.N1898K	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	25	5808	+			1898			Sufficient for interaction with EIF2C2.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.5694T>A	CCDS10624.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	12.57|12.57	1.977454|1.977454	0.34848|0.34848	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000315183;ENST00000395799;ENST00000432286|ENST00000450465	T;T|.	0.11821|.	2.76;2.74|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.174478|.	0.52532|.	D|.	0.000079|.	T|T	0.61763|0.61763	0.2373|0.2373	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	B;B|.	0.25904|.	0.137;0.1|.	B;B|.	0.29942|.	0.109;0.054|.	T|T	0.58629|0.58629	-0.7603|-0.7603	10|5	0.39692|.	T|.	0.17|.	-3.1927|-3.1927	15.8651|15.8651	0.79057|0.79057	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1849;1898|.	Q8NDV7-6;Q8NDV7|.	.;TNR6A_HUMAN|.	K|T	1849;1898;376|789	ENSP00000326900:N1849K;ENSP00000379144:N1898K|.	ENSP00000326900:N1849K|.	N|S	+|+	3|1	2|0	TNRC6A|TNRC6A	24742434|24742434	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.339000|2.339000	0.43965|0.43965	2.132000|2.132000	0.65825|0.65825	0.529000|0.529000	0.55759|0.55759	AAT|TCA		0.622	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		147	287	0	0	0	0	147	287				
TP53	7157	broad.mit.edu	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr17:7577114C>A	ENST00000269305.4	-	8	1013	c.824G>T	c.(823-825)tGt>tTt	p.C275F	TP53_ENST00000445888.2_Missense_Mutation_p.C275F|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.C275F|TP53_ENST00000455263.2_Missense_Mutation_p.C275F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.C275F	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	275	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7887414}.		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.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(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)	AGGACAGGCACAAACACGCAC	0.552		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		115	Substitution - Missense(92)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(2)	p.C275Y(44)|p.C275F(34)|p.C275G(7)|p.C275W(7)|p.0?(7)|p.C275R(6)|p.C275C(4)|p.C275fs*70(2)|p.C275fs*31(2)|p.?(2)|p.C275S(2)|p.R273_C275delRVC(1)|p.C275_A276ins10(1)|p.V274_P278del(1)|p.C275*(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275fs*20(1)|p.A276fs*29(1)	lung(14)|large_intestine(13)|breast(13)|upper_aerodigestive_tract(12)|central_nervous_system(10)|haematopoietic_and_lymphoid_tissue(10)|ovary(7)|urinary_tract(6)|stomach(5)|oesophagus(5)|bone(5)|liver(5)|skin(3)|pancreas(2)|NS(2)|prostate(2)|biliary_tract(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	CM076568|CM951234	TP53	M		c.(823-825)TGT>TTT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							71.0	61.0	64.0					17																	7577114		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.chr17:7577114C>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.824G>T	17.37:g.7577114C>A	ENSP00000269305:p.Cys275Phe	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.C275F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C143F|TP53_uc010cng.1_Missense_Mutation_p.C143F|TP53_uc002gii.1_Missense_Mutation_p.C143F|TP53_uc010cnh.1_Missense_Mutation_p.C275F|TP53_uc010cni.1_Missense_Mutation_p.C275F|TP53_uc002gij.2_Missense_Mutation_p.C275F	p.C275F	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1018	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	275		C -> S (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).	Interaction with DNA.||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.824G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536533	0.85812	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	4.92	4.92	0.64577	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	0.99883	0.9944	M	0.92738	3.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.97110	0.993;1.0;0.993;0.993	D	0.96317	0.9233	10	0.87932	D	0	-17.2181	15.662	0.77193	0.0:1.0:0.0:0.0	.	275;275;275;275	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	F	275;275;275;275;275;264;143	ENSP00000352610:C275F;ENSP00000269305:C275F;ENSP00000398846:C275F;ENSP00000391127:C275F;ENSP00000391478:C275F;ENSP00000425104:C143F	ENSP00000269305:C275F	C	-	2	0	TP53	7517839	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	TGT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	35	1	0	6.4e-05	6.92e-05	12	35				
SUPT6H	6830	broad.mit.edu	37	17	27017143	27017143	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr17:27017143A>C	ENST00000314616.6	+	26	3669	c.3386A>C	c.(3385-3387)gAg>gCg	p.E1129A	SUPT6H_ENST00000347486.4_Missense_Mutation_p.E1129A	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1129	Interaction with KDM6A. {ECO:0000250}.				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)					ATCCGGGCAGAGCTGAGCTGT	0.522																																						uc002hby.2		NA																	0				ovary(2)|skin(1)	3						c.(3385-3387)GAG>GCG		suppressor of Ty 6 homolog							128.0	125.0	126.0					17																	27017143		2203	4300	6503	SO:0001583	missense	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.chr17:27017143A>C	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.3386A>C	17.37:g.27017143A>C	ENSP00000319104:p.Glu1129Ala					SUPT6H_uc010crt.2_Missense_Mutation_p.E1129A|SUPT6H_uc002hbz.1_Missense_Mutation_p.E61A	p.E1129A	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN			26	3476	+	Lung NSC(42;0.00431)		1129					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.3386A>C	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.774351	0.90108	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.78	5.78	0.91487	Tex RuvX-like domain (1);	0.000000	0.85682	D	0.000000	D	0.87346	0.6154	H	0.95114	3.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90914	0.4778	9	0.72032	D	0.01	-26.37	16.3979	0.83621	1.0:0.0:0.0:0.0	.	1129	Q7KZ85	SPT6H_HUMAN	A	1129	.	ENSP00000319104:E1129A	E	+	2	0	SUPT6H	24041270	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	8.664000	0.91139	2.333000	0.79357	0.533000	0.62120	GAG		0.522	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		126	143	0	0	0	0	126	143				
TUBB6	84617	broad.mit.edu	37	18	12325401	12325401	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr18:12325401G>A	ENST00000317702.5	+	4	847	c.613G>A	c.(613-615)Gag>Aag	p.E205K	TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	205					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CATCGACAACGAGGCGCTCTA	0.602																																						uc002kqw.2		NA																	0					0						c.(613-615)GAG>AAG		tubulin, beta 6							183.0	151.0	162.0					18																	12325401		2203	4300	6503	SO:0001583	missense	84617				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr18:12325401G>A	AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014		"""Tubulins"""	20776	protein-coding gene	gene with protein product	"""tubulin beta MGC4083"", ""class V beta-tubulin"""	615103	"""tubulin, beta 6"""			12477932	Standard	NM_032525		Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	ENST00000317702.5:c.613G>A	18.37:g.12325401G>A	ENSP00000318697:p.Glu205Lys					TUBB6_uc002kqv.2_Missense_Mutation_p.E133K|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Missense_Mutation_p.E168K|TUBB6_uc002kqy.2_Intron	p.E205K	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN		READ - Rectum adenocarcinoma(1;0.0649)	4	658	+			205					B3KM76|Q9HA42	Missense_Mutation	SNP	ENST00000317702.5	37	c.613G>A	CCDS11858.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349596	0.61183	.	.	ENSG00000176014	ENST00000317702;ENST00000417736;ENST00000445717	T	0.70631	-0.5	5.17	5.17	0.71159	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.85617	0.5738	H	0.94423	3.535	0.80722	D	1	P;P	0.43542	0.672;0.81	P;P	0.50378	0.487;0.639	D	0.89494	0.3759	10	0.87932	D	0	.	19.1108	0.93315	0.0:0.0:1.0:0.0	.	177;205	B4DP54;Q9BUF5	.;TBB6_HUMAN	K	205;133;177	ENSP00000318697:E205K	ENSP00000318697:E205K	E	+	1	0	TUBB6	12315401	1.000000	0.71417	1.000000	0.80357	0.582000	0.36321	9.626000	0.98410	2.600000	0.87896	0.449000	0.29647	GAG		0.602	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254600.2	NM_032525		38	208	0	0	0	0	38	208				
UPF1	5976	broad.mit.edu	37	19	18968194	18968194	+	Silent	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr19:18968194C>T	ENST00000599848.1	+	15	2276	c.2067C>T	c.(2065-2067)gcC>gcT	p.A689A	UPF1_ENST00000262803.5_Silent_p.A678A			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	689					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CGGCCAAGGCCGGGCTGTCAC	0.647																																						uc002nkg.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2065-2067)GCC>GCT		regulator of nonsense transcripts 1							37.0	42.0	41.0					19																	18968194		2203	4299	6502	SO:0001819	synonymous_variant	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding	g.chr19:18968194C>T	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.2067C>T	19.37:g.18968194C>T						UPF1_uc002nkf.2_Silent_p.A678A|UPF1_uc002nkh.2_5'Flank	p.A689A	NM_002911	NP_002902	Q92900	RENT1_HUMAN			15	2342	+			689					O00239|O43343|Q86Z25|Q92842	Silent	SNP	ENST00000599848.1	37	c.2067C>T																																																																																					0.647	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		32	105	0	0	0	0	32	105				
ZNF737	100129842	broad.mit.edu	37	19	20727463	20727463	+	Missense_Mutation	SNP	T	T	C	rs10411329	byFrequency	TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr19:20727463T>C	ENST00000427401.4	-	4	1640	c.1546A>G	c.(1546-1548)Aaa>Gaa	p.K516E		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	516			K -> E (in dbSNP:rs10411329). {ECO:0000269|PubMed:15489334}.		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(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTAAAGCCTTTGCCACATTCT	0.403													-|||	2092	0.417732	0.3449	0.5202	5008	,	,		20903	0.4395		0.4185	False		,,,				2504	0.4202					uc002npa.2		NA																	0				ovary(1)	1						c.(1546-1548)AAA>GAA		zinc finger protein 737		T	GLU/LYS	490,894		87,316,289	46.0	47.0	47.0		1546	0.8	0.3	19	dbSNP_119	47	1191,1991		221,749,621	no	missense	ZNF737	NM_001159293.1	56	308,1065,910	CC,CT,TT		37.4293,35.4046,36.8156	benign	516/537	20727463	1681,2885	692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20727463T>C	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.1546A>G	19.37:g.20727463T>C	ENSP00000395733:p.Lys516Glu						p.K516E	NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN			4	1726	-			516					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.1546A>G	CCDS54238.1	939	0.42994505494505497	168	0.34146341463414637	179	0.494475138121547	267	0.46678321678321677	325	0.4287598944591029	N	12.59	1.984912	0.35036	0.354046	0.374293	ENSG00000237440	ENST00000427401	T	0.27104	1.69	0.801	0.801	0.18679	.	.	.	.	.	T	0.00012	0.0000	L	0.60904	1.88	0.37937	P	0.06779599999999997	B	0.25743	0.133	B	0.30401	0.115	T	0.42666	-0.9438	8	0.87932	D	0	.	3.7037	0.08392	0.0:0.0:0.0:1.0	rs10411329;rs52819273;rs10411329	516	C9JHM3	.	E	516	ENSP00000395733:K516E	ENSP00000395733:K516E	K	-	1	0	ZNF737	20519303	0.006000	0.16342	0.286000	0.24833	0.282000	0.26991	-2.106000	0.01338	0.147000	0.19030	0.145000	0.16022	AAA		0.403	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		3	55	0	0	0	0	3	55				
PXDN	7837	broad.mit.edu	37	2	1652573	1652573	+	Silent	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr2:1652573G>A	ENST00000252804.4	-	17	3029	c.2979C>T	c.(2977-2979)cgC>cgT	p.R993R		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	993					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGTTGTGCTCGCGGAACCACA	0.647																																						uc002qxa.2		NA																	0				pancreas(6)|ovary(2)	8						c.(2977-2979)CGC>CGT		peroxidasin precursor							28.0	28.0	28.0					2																	1652573		2171	4267	6438	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652573G>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2979C>T	2.37:g.1652573G>A							p.R993R	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	3043	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	993					A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.2979C>T	CCDS46221.1																																																																																				0.647	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		7	10	0	0	0	0	7	10				
DOK1	1796	broad.mit.edu	37	2	74782758	74782758	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr2:74782758G>T	ENST00000233668.5	+	3	1086	c.417G>T	c.(415-417)gaG>gaT	p.E139D	LOXL3_ENST00000484369.1_5'Flank|DOK1_ENST00000409429.1_5'UTR|LOXL3_ENST00000393937.2_5'Flank|DOK1_ENST00000480318.1_3'UTR|M1AP_ENST00000464686.1_5'Flank|LOXL3_ENST00000409249.1_5'Flank|LOXL3_ENST00000409986.1_5'Flank|LOXL3_ENST00000409549.1_5'Flank|LOXL3_ENST00000264094.3_5'Flank|DOK1_ENST00000340004.6_Missense_Mutation_p.E139D	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	139					cell surface receptor signaling pathway (GO:0007166)|insulin receptor signaling pathway (GO:0008286)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTGCCCTGGAGATGCTGGAGA	0.587																																					Esophageal Squamous(36;520 860 12502 33616 51270)	uc002sms.2		NA																	0					0						c.(415-417)GAG>GAT		docking protein 1							56.0	56.0	56.0					2																	74782758		2203	4300	6503	SO:0001583	missense	1796				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding	g.chr2:74782758G>T	U70987	CCDS1954.1, CCDS56125.1	2p13	2008-05-21	2002-08-29		ENSG00000115325	ENSG00000115325			2990	protein-coding gene	gene with protein product		602919	"""docking protein 1, 62kD (downstream of tyrosine kinase 1)"""			9008160, 9790776, 15546884	Standard	NM_001381		Approved	p62dok	uc002sms.3	Q99704	OTTHUMG00000129956	ENST00000233668.5:c.417G>T	2.37:g.74782758G>T	ENSP00000233668:p.Glu139Asp					LOXL3_uc010ffm.1_5'Flank|LOXL3_uc002smp.1_5'Flank|LOXL3_uc002smq.1_5'Flank|LOXL3_uc010ffn.1_5'Flank|DOK1_uc002smr.2_5'UTR|DOK1_uc010ffo.2_5'UTR|DOK1_uc002smt.2_5'UTR|DOK1_uc002smu.2_5'UTR|DOK1_uc010yrz.1_Missense_Mutation_p.E128D|DOK1_uc002smv.2_5'UTR|DOK1_uc002smw.1_5'UTR	p.E139D	NM_001381	NP_001372	Q99704	DOK1_HUMAN			3	439	+			139					O43204|Q53TY2|Q9UHG6	Missense_Mutation	SNP	ENST00000233668.5	37	c.417G>T	CCDS1954.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253283	0.59212	.	.	ENSG00000115325	ENST00000233668;ENST00000340004	T	0.34472	1.36	4.8	4.8	0.61643	.	0.481823	0.23863	N	0.043829	T	0.26882	0.0658	L	0.46157	1.445	0.34761	D	0.732713	P;P	0.40000	0.698;0.476	B;B	0.31547	0.132;0.132	T	0.36359	-0.9751	10	0.19147	T	0.46	-22.7149	13.235	0.59965	0.0:0.0:1.0:0.0	.	128;139	B4DJN1;Q99704	.;DOK1_HUMAN	D	139	ENSP00000233668:E139D	ENSP00000233668:E139D	E	+	3	2	DOK1	74636266	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.174000	0.65015	2.503000	0.84419	0.561000	0.74099	GAG		0.587	DOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252218.3	NM_001381		46	86	1	0	2.59e-38	2.98e-38	46	86				
SNRNP200	23020	broad.mit.edu	37	2	96944428	96944428	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr2:96944428G>A	ENST00000323853.5	-	38	5422	c.5345C>T	c.(5344-5346)tCg>tTg	p.S1782L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1782					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CAAGTGGTCCGACAAGTGACG	0.567																																						uc002svu.2		NA																	0				ovary(5)|skin(4)|large_intestine(1)	10						c.(5344-5346)TCG>TTG		activating signal cointegrator 1 complex subunit							88.0	86.0	87.0					2																	96944428		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96944428G>A	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.5345C>T	2.37:g.96944428G>A	ENSP00000317123:p.Ser1782Leu					SNRNP200_uc002svt.2_Missense_Mutation_p.S392L|SNRNP200_uc010yuj.1_RNA	p.S1782L	NM_014014	NP_054733	O75643	U520_HUMAN			38	5431	-			1782					O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.5345C>T	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750445	0.89753	.	.	ENSG00000144028	ENST00000323853;ENST00000536601;ENST00000543553	T	0.46063	0.88	5.77	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.65903	0.2736	H	0.94620	3.56	0.80722	D	1	D	0.61080	0.989	P	0.51777	0.679	T	0.77070	-0.2724	10	0.87932	D	0	-11.917	15.5723	0.76349	0.0:0.1383:0.8617:0.0	.	1782	O75643	U520_HUMAN	L	1782;241;365	ENSP00000317123:S1782L	ENSP00000317123:S1782L	S	-	2	0	SNRNP200	96308155	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.466000	0.80914	2.884000	0.98904	0.655000	0.94253	TCG		0.567	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		30	121	0	0	0	0	30	121				
MARCO	8685	broad.mit.edu	37	2	119739968	119739968	+	Nonsense_Mutation	SNP	G	G	T	rs137938144		TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr2:119739968G>T	ENST00000327097.4	+	12	1180	c.1045G>T	c.(1045-1047)Gga>Tga	p.G349*	MARCO_ENST00000541757.1_Nonsense_Mutation_p.G271*	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	349	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.G349R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGGCCTGAAAGGAAGCAAAGG	0.567																																					GBM(8;18 374 7467 11269 32796)	uc002tln.1		NA																	1	Substitution - Missense(1)	p.G349R(1)	skin(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1045-1047)GGA>TGA		macrophage receptor with collagenous structure							164.0	171.0	169.0					2																	119739968		2203	4300	6503	SO:0001587	stop_gained	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119739968G>T	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.1045G>T	2.37:g.119739968G>T	ENSP00000318916:p.Gly349*					MARCO_uc010yyf.1_Nonsense_Mutation_p.G271*	p.G349*	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN			12	1177	+			349			Collagen-like.|Extracellular (Potential).		B4DW79|Q9Y5S3	Nonsense_Mutation	SNP	ENST00000327097.4	37	c.1045G>T	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581217	0.86748	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	.	.	.	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5876	0.61940	0.0:0.0:1.0:0.0	.	.	.	.	X	349;349;271	.	.	G	+	1	0	MARCO	119456438	1.000000	0.71417	1.000000	0.80357	0.088000	0.18126	4.843000	0.62838	2.565000	0.86533	0.655000	0.94253	GGA		0.567	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		74	164	1	0	2.18e-87	2.55e-87	74	164				
EVX2	344191	broad.mit.edu	37	2	176947052	176947052	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr2:176947052C>T	ENST00000308618.4	-	2	689	c.553G>A	c.(553-555)Gcg>Acg	p.A185T		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	185					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		ACTTGATCCGCGCCAGAGCCG	0.721																																						uc010zeu.1		NA																	0				ovary(2)	2						c.(553-555)GCG>ACG		even-skipped homeobox 2							8.0	9.0	8.0					2																	176947052		2139	4210	6349	SO:0001583	missense	344191					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176947052C>T		CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"""Homeoboxes / ANTP class : HOXL subclass"""	3507	protein-coding gene	gene with protein product		142991	"""eve, even-skipped homeobox homolog 2 (Drosophila)"""			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.553G>A	2.37:g.176947052C>T	ENSP00000312385:p.Ala185Thr						p.A185T	NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)	2	739	-			185						Missense_Mutation	SNP	ENST00000308618.4	37	c.553G>A	CCDS33333.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.853758	0.71719	.	.	ENSG00000174279	ENST00000308618	D	0.95690	-3.78	4.59	4.59	0.56863	Homeodomain-related (1);Homeodomain-like (1);	0.215417	0.39544	N	0.001339	D	0.90734	0.7092	N	0.17838	0.53	0.44995	D	0.998016	B	0.21688	0.059	B	0.10450	0.005	D	0.87255	0.2275	10	0.33141	T	0.24	-18.1374	17.1717	0.86832	0.0:1.0:0.0:0.0	.	185	Q03828	EVX2_HUMAN	T	185	ENSP00000312385:A185T	ENSP00000312385:A185T	A	-	1	0	EVX2	176655298	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	1.534000	0.36051	2.396000	0.81511	0.563000	0.77884	GCG		0.721	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1			16	21	0	0	0	0	16	21				
TMEM198	130612	broad.mit.edu	37	2	220412557	220412557	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr2:220412557C>T	ENST00000344458.2	+	4	1081	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	MIR3132_ENST00000581997.1_RNA|RP11-256I23.1_ENST00000596829.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.R166C			Q66K66	TM198_HUMAN	transmembrane protein 198	166	Leu-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GCTCACTCTGCGCTGGCCCCG	0.706																																						uc002vme.2		NA																	0				ovary(1)	1						c.(496-498)CGC>TGC		transmembrane protein 198							12.0	13.0	13.0					2																	220412557		2174	4267	6441	SO:0001583	missense	130612					integral to membrane		g.chr2:220412557C>T	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.496C>T	2.37:g.220412557C>T	ENSP00000343507:p.Arg166Cys					TMEM198_uc002vmf.2_Missense_Mutation_p.R166C	p.R166C	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	1081	+		Renal(207;0.0376)	166			Leu-rich.			Missense_Mutation	SNP	ENST00000344458.2	37	c.496C>T	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896896	0.72639	.	.	ENSG00000188760	ENST00000344458;ENST00000421791;ENST00000373883	.	.	.	3.83	3.83	0.44106	.	0.129832	0.64402	D	0.000018	T	0.47060	0.1425	N	0.05230	-0.09	0.58432	D	0.999998	D	0.76494	0.999	P	0.58928	0.848	T	0.55237	-0.8172	9	0.38643	T	0.18	-27.4024	15.8871	0.79258	0.0:1.0:0.0:0.0	.	166	Q66K66	TM198_HUMAN	C	166	.	ENSP00000343507:R166C	R	+	1	0	TMEM198	220120801	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.411000	0.80078	2.137000	0.66172	0.591000	0.81541	CGC		0.706	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		19	23	0	0	0	0	19	23				
MMP9	4318	broad.mit.edu	37	20	44641091	44641091	+	Silent	SNP	G	G	A	rs201927079		TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr20:44641091G>A	ENST00000372330.3	+	8	1219	c.1200G>A	c.(1198-1200)gcG>gcA	p.A400A	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	400					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	TCGTGGCGGCGCATGAGTTCG	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		12827	0.0		0.001	False		,,,				2504	0.0					uc002xqz.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1198-1200)GCG>GCA		matrix metalloproteinase 9 preproprotein	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						58.0	56.0	57.0					20																	44641091		2203	4300	6503	SO:0001819	synonymous_variant	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44641091G>A		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1200G>A	20.37:g.44641091G>A							p.A400A	NM_004994	NP_004985	P14780	MMP9_HUMAN			8	1219	+		Myeloproliferative disorder(115;0.0122)	400					B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Silent	SNP	ENST00000372330.3	37	c.1200G>A	CCDS13390.1																																																																																				0.652	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			85	81	0	0	0	0	85	81				
LAMA5	3911	broad.mit.edu	37	20	60900576	60900576	+	Silent	SNP	G	G	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr20:60900576G>T	ENST00000252999.3	-	41	5391	c.5325C>A	c.(5323-5325)cgC>cgA	p.R1775R		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1775	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			ACACAGTGTTGCGCGTCTCCG	0.622																																						uc002ycq.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(5323-5325)CGC>CGA		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						67.0	51.0	57.0					20																	60900576		2203	4298	6501	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60900576G>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.5325C>A	20.37:g.60900576G>T							p.R1775R	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		41	5392	-	Breast(26;1.57e-08)		1775			Laminin IV type A.		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.5325C>A	CCDS33502.1																																																																																				0.622	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		49	52	1	0	2.75e-27	3.12e-27	49	52				
ZBTB46	140685	broad.mit.edu	37	20	62421367	62421367	+	Silent	SNP	G	G	A	rs202040562		TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr20:62421367G>A	ENST00000245663.4	-	2	894	c.744C>T	c.(742-744)gaC>gaT	p.D248D	ZBTB46_ENST00000395104.1_Silent_p.D248D|ZBTB46_ENST00000302995.2_Silent_p.D248D|ZBTB46_ENST00000480766.1_5'Flank	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	248					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GTACTGCACCGTCCTTGGCAG	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		21995	0.001		0.0	False		,,,				2504	0.0					uc002ygv.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(742-744)GAC>GAT		zinc finger and BTB domain containing 46							83.0	77.0	79.0					20																	62421367		2203	4300	6503	SO:0001819	synonymous_variant	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62421367G>A	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.744C>T	20.37:g.62421367G>A						ZBTB46_uc002ygu.2_RNA	p.D248D	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN			2	945	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		248					E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Silent	SNP	ENST00000245663.4	37	c.744C>T	CCDS13538.1																																																																																				0.587	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		59	110	0	0	0	0	59	110				
SIK1	150094	broad.mit.edu	37	21	44837482	44837482	+	Silent	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr21:44837482G>A	ENST00000270162.6	-	13	2049	c.1917C>T	c.(1915-1917)ggC>ggT	p.G639G		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	639					cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	CGGCTGCGCCGCCGTGCAGGC	0.771																																						uc002zdf.2		NA																	0				lung(2)|testis(2)|ovary(1)|central_nervous_system(1)|skin(1)	7						c.(1915-1917)GGC>GGT		salt-inducible kinase 1							8.0	10.0	10.0					21																	44837482		2132	4171	6303	SO:0001819	synonymous_variant	150094				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr21:44837482G>A	BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"""myocardial SNF1-like kinase"""	605705	"""SNF1-like kinase"""	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.1917C>T	21.37:g.44837482G>A							p.G639G	NM_173354	NP_775490	P57059	SIK1_HUMAN			13	2044	-			639					A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Silent	SNP	ENST00000270162.6	37	c.1917C>T	CCDS33575.1																																																																																				0.771	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354		10	17	0	0	0	0	10	17				
ADAMTS9	56999	broad.mit.edu	37	3	64606848	64606848	+	Missense_Mutation	SNP	C	C	T	rs554151476		TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr3:64606848C>T	ENST00000498707.1	-	19	3097	c.2755G>A	c.(2755-2757)Gat>Aat	p.D919N	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.D891N	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	919	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GGCAGCCGATCGCATCTTTGA	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		16791	0.0		0.0	False		,,,				2504	0.001					uc003dmg.2		NA																	0				ovary(2)|urinary_tract(1)|skin(1)	4						c.(2755-2757)GAT>AAT		ADAM metallopeptidase with thrombospondin type 1							68.0	70.0	70.0					3																	64606848		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64606848C>T	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.2755G>A	3.37:g.64606848C>T	ENSP00000418735:p.Asp919Asn					ADAMTS9_uc011bfo.1_Missense_Mutation_p.D891N|ADAMTS9_uc003dmh.1_Missense_Mutation_p.D748N|ADAMTS9_uc003dmk.1_Missense_Mutation_p.D919N	p.D919N	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	19	2787	-		Lung NSC(201;0.00682)	919			TSP type-1 2.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.2755G>A	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.862293	0.51482	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.61040	0.14;0.14	5.96	4.19	0.49359	.	0.248814	0.40302	N	0.001121	T	0.60457	0.2270	L	0.43701	1.375	0.45567	D	0.998516	P;P;D;P	0.76494	0.658;0.474;0.999;0.454	B;B;P;B	0.57548	0.072;0.131;0.823;0.018	T	0.54323	-0.8311	10	0.18710	T	0.47	.	12.5484	0.56214	0.0:0.8662:0.0:0.1338	.	891;919;919;919	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	N	891;919	ENSP00000295903:D891N;ENSP00000418735:D919N	ENSP00000295903:D891N	D	-	1	0	ADAMTS9	64581888	1.000000	0.71417	0.963000	0.40424	0.988000	0.76386	2.670000	0.46833	0.875000	0.35847	0.585000	0.79938	GAT		0.463	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			14	31	0	0	0	0	14	31				
STK32B	55351	broad.mit.edu	37	4	5170125	5170125	+	Missense_Mutation	SNP	C	C	T	rs371890370	byFrequency	TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr4:5170125C>T	ENST00000282908.5	+	3	630	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W	STK32B_ENST00000510398.1_Missense_Mutation_p.R23W|STK32B_ENST00000512636.1_Missense_Mutation_p.R23W	NM_018401.1	NP_060871.1			serine/threonine kinase 32B									p.R70R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						GAATGTTTTCCGGGAGCTGCA	0.537													C|||	2	0.000399361	0.0	0.0014	5008	,	,		18913	0.001		0.0	False		,,,				2504	0.0					uc003gih.1		NA																	1	Substitution - coding silent(1)		large_intestine(1)	breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(208-210)CGG>TGG		serine/threonine kinase 32B		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	100.0	90.0	93.0		208	1.9	1.0	4		93	0,8600		0,0,4300	no	missense	STK32B	NM_018401.1	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	70/415	5170125	1,13005	2203	4300	6503	SO:0001583	missense	55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5170125C>T	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.208C>T	4.37:g.5170125C>T	ENSP00000282908:p.Arg70Trp					STK32B_uc010ida.1_Missense_Mutation_p.R23W	p.R70W	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN			3	272	+			70			Protein kinase.			Missense_Mutation	SNP	ENST00000282908.5	37	c.208C>T	CCDS3380.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717641	0.48622	2.27E-4	0.0	ENSG00000152953	ENST00000282908;ENST00000512636;ENST00000510398	T;T;T	0.29397	1.57;1.57;1.57	5.03	1.93	0.25924	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	0.38897	U	0.001526	T	0.56366	0.1980	M	0.82716	2.605	0.51767	D	0.999933	D	0.89917	1.0	D	0.87578	0.998	T	0.63563	-0.6609	10	0.87932	D	0	.	13.4	0.60876	0.5283:0.4717:0.0:0.0	.	70	Q9NY57	ST32B_HUMAN	W	70;23;23	ENSP00000282908:R70W;ENSP00000423209:R23W;ENSP00000420984:R23W	ENSP00000282908:R70W	R	+	1	2	STK32B	5221026	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	2.434000	0.44802	0.507000	0.28148	-0.169000	0.13324	CGG		0.537	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401		18	40	0	0	0	0	18	40				
CNGA1	1259	broad.mit.edu	37	4	47939397	47939397	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr4:47939397C>T	ENST00000514170.1	-	11	1433	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N	CNGA1_ENST00000402813.3_Missense_Mutation_p.D441N|CNGA1_ENST00000544810.1_Missense_Mutation_p.D372N|CNGA1_ENST00000358519.4_Missense_Mutation_p.D372N|CNGA1_ENST00000420489.2_Missense_Mutation_p.D372N			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	372					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TACTCAGAATCCCTCACGGGA	0.418																																						uc003gxt.3		NA																	0				ovary(2)	2						c.(1114-1116)GAT>AAT		cyclic nucleotide gated channel alpha 1 isoform							139.0	138.0	139.0					4																	47939397		1874	4116	5990	SO:0001583	missense	1259				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	g.chr4:47939397C>T	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1114G>A	4.37:g.47939397C>T	ENSP00000426862:p.Asp372Asn					uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.D441N	p.D372N	NM_000087	NP_000078	P29973	CNGA1_HUMAN			11	1380	-			372			Cytoplasmic (Potential).		A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	c.1114G>A	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.447757	0.26074	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28;-4.28	4.89	4.89	0.63831	Ion transport (1);	0.046518	0.85682	D	0.000000	D	0.93943	0.8061	L	0.37800	1.135	0.51233	D	0.99991	B;B	0.24823	0.112;0.112	B;B	0.19946	0.027;0.027	D	0.92035	0.5636	10	0.13108	T	0.6	.	18.0843	0.89453	0.0:1.0:0.0:0.0	.	372;372	Q4W5E3;P29973	.;CNGA1_HUMAN	N	441;372;372;372;372	ENSP00000384264:D441N;ENSP00000426862:D372N;ENSP00000443401:D372N;ENSP00000351320:D372N;ENSP00000389881:D372N	ENSP00000351320:D372N	D	-	1	0	CNGA1	47634154	1.000000	0.71417	1.000000	0.80357	0.331000	0.28603	3.632000	0.54287	2.259000	0.74868	0.561000	0.74099	GAT		0.418	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		133	176	0	0	0	0	133	176				
CDH10	1008	broad.mit.edu	37	5	24537764	24537764	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr5:24537764T>C	ENST00000264463.4	-	3	758	c.251A>G	c.(250-252)aAa>aGa	p.K84R		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	84	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCCATCTCCTTTATCTTGGTC	0.363										HNSCC(23;0.051)																												uc003jgr.1		NA																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(250-252)AAA>AGA		cadherin 10, type 2 preproprotein							58.0	58.0	58.0					5																	24537764		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24537764T>C	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.251A>G	5.37:g.24537764T>C	ENSP00000264463:p.Lys84Arg	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.K84R	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	3	583	-			84			Cadherin 1.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.251A>G	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	T	9.374	1.071361	0.20147	.	.	ENSG00000040731	ENST00000264463	T	0.52295	0.67	5.88	5.88	0.94601	Cadherin (4);Cadherin-like (1);	0.098165	0.64402	D	0.000004	T	0.33556	0.0867	N	0.11818	0.18	0.32238	N	0.573086	B	0.21147	0.052	B	0.32022	0.139	T	0.36432	-0.9748	10	0.13470	T	0.59	.	15.4711	0.75441	0.0:0.0:0.0:1.0	.	84	Q9Y6N8	CAD10_HUMAN	R	84	ENSP00000264463:K84R	ENSP00000264463:K84R	K	-	2	0	CDH10	24573521	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.004000	0.40854	2.252000	0.74401	0.460000	0.39030	AAA		0.363	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		5	91	0	0	0	0	5	91				
VCAN	1462	broad.mit.edu	37	5	82816466	82816466	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr5:82816466G>A	ENST00000265077.3	+	7	2906	c.2341G>A	c.(2341-2343)Gaa>Aaa	p.E781K	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.E781K|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.E733K	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	781	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAAATATGATGAAAATATTAC	0.383																																						uc003kii.3		NA																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(2341-2343)GAA>AAA		versican isoform 1 precursor							68.0	67.0	68.0					5																	82816466		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82816466G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2341G>A	5.37:g.82816466G>A	ENSP00000265077:p.Glu781Lys					VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.E781K|VCAN_uc003kik.3_Intron	p.E781K	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	2697	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	781			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.2341G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949400	0.34377	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.20598	2.06;2.06;2.06	5.54	3.69	0.42338	.	0.791572	0.11664	N	0.541573	T	0.16085	0.0387	L	0.41824	1.3	0.09310	N	1	B;B	0.28512	0.141;0.214	B;B	0.23419	0.046;0.02	T	0.22836	-1.0205	10	0.30078	T	0.28	.	7.094	0.25299	0.2919:0.0:0.7081:0.0	.	781;781	P13611-3;P13611	.;CSPG2_HUMAN	K	781;781;733	ENSP00000265077:E781K;ENSP00000342768:E781K;ENSP00000425959:E733K	ENSP00000265077:E781K	E	+	1	0	VCAN	82852222	0.000000	0.05858	0.005000	0.12908	0.010000	0.07245	-0.077000	0.11394	0.822000	0.34565	0.655000	0.94253	GAA		0.383	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		34	62	0	0	0	0	34	62				
HIST1H1E	3008	broad.mit.edu	37	6	26157170	26157170	+	Silent	SNP	G	G	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr6:26157170G>T	ENST00000304218.3	+	1	612	c.552G>T	c.(550-552)gcG>gcT	p.A184A	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	184					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CAAAAAAGGCGCCCAAGAGCC	0.567																																						uc003ngq.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(550-552)GCG>GCT		histone cluster 1, H1e							23.0	25.0	25.0					6																	26157170		2196	4297	6493	SO:0001819	synonymous_variant	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26157170G>T	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.552G>T	6.37:g.26157170G>T						HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	p.A184A	NM_005321	NP_005312	P10412	H14_HUMAN			1	612	+			184					Q4VB25	Silent	SNP	ENST00000304218.3	37	c.552G>T	CCDS4586.1																																																																																				0.567	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		6	28	1	0	0.00198382	0.00212552	6	28				
OR2J2	26707	broad.mit.edu	37	6	29141855	29141855	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr6:29141855C>A	ENST00000377167.2	+	1	545	c.443C>A	c.(442-444)gCt>gAt	p.A148D		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TTGGTTGCGGCTTCTTGGGTA	0.458																																						uc011dlm.1		NA																	0					0						c.(442-444)GCT>GAT		olfactory receptor, family 2, subfamily J,							294.0	269.0	277.0					6																	29141855		1984	4160	6144	SO:0001583	missense	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29141855C>A		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.443C>A	6.37:g.29141855C>A	ENSP00000366372:p.Ala148Asp						p.A148D	NM_030905	NP_112167	O76002	OR2J2_HUMAN			1	545	+			148			Helical; Name=4; (Potential).		A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	ENST00000377167.2	37	c.443C>A	CCDS43434.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.299208	0.23650	.	.	ENSG00000204700	ENST00000377167	T	0.40476	1.03	2.3	1.38	0.22167	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.47210	0.1433	M	0.86740	2.835	0.32007	N	0.602625	P	0.49307	0.922	P	0.55713	0.782	T	0.46456	-0.9190	9	0.72032	D	0.01	.	8.177	0.31287	0.0:0.8525:0.0:0.1475	.	148	O76002	OR2J2_HUMAN	D	148	ENSP00000366372:A148D	ENSP00000366372:A148D	A	+	2	0	OR2J2	29249834	0.000000	0.05858	0.966000	0.40874	0.066000	0.16364	-1.371000	0.02573	1.265000	0.44215	0.205000	0.17691	GCT		0.458	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			213	239	1	0	2.7e-105	3.17e-105	213	239				
RING1	6015	broad.mit.edu	37	6	33177826	33177826	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr6:33177826T>G	ENST00000374656.4	+	4	582	c.374T>G	c.(373-375)cTt>cGt	p.L125R	MIR219-1_ENST00000362166.1_RNA|RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	125	Necessary for transcriptional repression. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GACCGAGTGCTTATCCGCCTG	0.582																																						uc003odk.2		NA																	0				ovary(1)|skin(1)	2						c.(373-375)CTT>CGT		ring finger protein 1							66.0	57.0	60.0					6																	33177826		2203	4300	6503	SO:0001583	missense	6015				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding	g.chr6:33177826T>G		CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"""RING-type (C3HC4) zinc fingers"""	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.374T>G	6.37:g.33177826T>G	ENSP00000363787:p.Leu125Arg					RING1_uc011dqx.1_Missense_Mutation_p.L125R|RING1_uc003odl.2_Missense_Mutation_p.L96R	p.L125R	NM_002931	NP_002922	Q06587	RING1_HUMAN			4	568	+			125			Necessary for transcriptional repression (By similarity).		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Missense_Mutation	SNP	ENST00000374656.4	37	c.374T>G	CCDS34424.1	.	.	.	.	.	.	.	.	.	.	T	16.48	3.135651	0.56828	.	.	ENSG00000204227	ENST00000374656	D	0.85258	-1.96	4.16	4.16	0.48862	.	0.000000	0.64402	D	0.000007	T	0.77398	0.4124	M	0.68317	2.08	0.49915	D	0.999833	P	0.42483	0.781	B	0.41466	0.358	T	0.78640	-0.2125	10	0.40728	T	0.16	-27.184	11.2016	0.48745	0.0:0.0:0.0:1.0	.	125	Q06587	RING1_HUMAN	R	125	ENSP00000363787:L125R	ENSP00000363787:L125R	L	+	2	0	RING1	33285804	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.472000	0.80996	1.753000	0.51906	0.443000	0.29094	CTT		0.582	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2			10	49	0	0	0	0	10	49				
MED23	9439	broad.mit.edu	37	6	131917292	131917292	+	Silent	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr6:131917292C>T	ENST00000368068.3	-	22	2969	c.2790G>A	c.(2788-2790)gaG>gaA	p.E930E	MED23_ENST00000368060.3_Silent_p.E930E|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368058.1_Silent_p.E936E|MED23_ENST00000354577.4_Silent_p.E936E|MED23_ENST00000403834.3_Silent_p.E936E|MED23_ENST00000545957.1_Silent_p.E571E	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	930					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AATACAACTTCTCTGGATATT	0.378																																						uc003qcs.1		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(2788-2790)GAG>GAA		mediator complex subunit 23 isoform a							78.0	83.0	81.0					6																	131917292		2203	4300	6503	SO:0001819	synonymous_variant	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131917292C>T	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2790G>A	6.37:g.131917292C>T						MED23_uc003qcq.2_Silent_p.E936E|MED23_uc003qcr.1_5'Flank|MED23_uc011eca.1_Silent_p.E571E	p.E930E	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	22	2964	-	Breast(56;0.0753)		930					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Silent	SNP	ENST00000368068.3	37	c.2790G>A	CCDS5147.1																																																																																				0.378	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			19	96	0	0	0	0	19	96				
CCDC126	90693	broad.mit.edu	37	7	23682617	23682617	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr7:23682617C>G	ENST00000307471.3	+	4	763	c.306C>G	c.(304-306)aaC>aaG	p.N102K	CCDC126_ENST00000409765.1_Missense_Mutation_p.N102K|CCDC126_ENST00000410069.1_Missense_Mutation_p.N102K	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126	102					protein N-linked glycosylation (GO:0006487)	extracellular region (GO:0005576)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						AGCTGGAGAACAAAGTTGACT	0.393																																						uc003swl.2		NA																	0				ovary(1)|skin(1)	2						c.(304-306)AAC>AAG		coiled-coil domain containing 126 precursor							121.0	112.0	115.0					7																	23682617		2203	4300	6503	SO:0001583	missense	90693					extracellular region		g.chr7:23682617C>G	BC012427	CCDS5384.1	7p15.3	2006-08-15			ENSG00000169193	ENSG00000169193			22398	protein-coding gene	gene with protein product						12477932	Standard	NM_138771		Approved	FLJ23031	uc003swl.3	Q96EE4	OTTHUMG00000128461	ENST00000307471.3:c.306C>G	7.37:g.23682617C>G	ENSP00000304355:p.Asn102Lys					CCDC126_uc003swm.2_Missense_Mutation_p.N102K|CCDC126_uc003swn.2_Missense_Mutation_p.N102K	p.N102K	NM_138771	NP_620126	Q96EE4	CC126_HUMAN			4	763	+			102					A8K1J6|Q6UWP1|Q75MQ6	Missense_Mutation	SNP	ENST00000307471.3	37	c.306C>G	CCDS5384.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.514692	0.27123	.	.	ENSG00000169193	ENST00000307471;ENST00000409765;ENST00000448353;ENST00000410069	.	.	.	5.9	5.9	0.94986	.	0.421858	0.29822	N	0.011119	T	0.57007	0.2024	L	0.44542	1.39	0.39722	D	0.97148	B	0.15473	0.013	B	0.19391	0.025	T	0.53563	-0.8421	9	0.12766	T	0.61	-5.6065	20.2704	0.98474	0.0:1.0:0.0:0.0	.	102	Q96EE4	CC126_HUMAN	K	102	.	ENSP00000304355:N102K	N	+	3	2	CCDC126	23649142	0.989000	0.36119	0.996000	0.52242	0.984000	0.73092	2.868000	0.48436	2.793000	0.96121	0.591000	0.81541	AAC		0.393	CCDC126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250259.1	NM_138771		4	121	0	0	0	0	4	121				
STYXL1	51657	broad.mit.edu	37	7	75633097	75633097	+	Missense_Mutation	SNP	G	G	A	rs576061630		TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr7:75633097G>A	ENST00000248600.1	-	7	1018	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	STYXL1_ENST00000340062.5_Missense_Mutation_p.R130C|STYXL1_ENST00000359697.3_Missense_Mutation_p.R226C|STYXL1_ENST00000451157.1_Missense_Mutation_p.R226C|STYXL1_ENST00000431581.1_Missense_Mutation_p.R226C|STYXL1_ENST00000360591.3_3'UTR	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	226	Tyrosine-protein phosphatase.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						CACATGTGGCGTAAGAAGGGA	0.557																																						uc003uej.3		NA																	0					0						c.(676-678)CGC>TGC		map kinase phosphatase-like protein MK-STYX							140.0	104.0	116.0					7																	75633097		2203	4300	6503	SO:0001583	missense	51657				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity	g.chr7:75633097G>A	AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	18165	protein-coding gene	gene with protein product			"""dual specificity phosphatase 24 (putative)"""	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.676C>T	7.37:g.75633097G>A	ENSP00000248600:p.Arg226Cys					STYXL1_uc003uef.2_Missense_Mutation_p.R32C|STYXL1_uc011kgf.1_Missense_Mutation_p.R88C|STYXL1_uc011kgg.1_Missense_Mutation_p.R78C|STYXL1_uc003ueh.2_Missense_Mutation_p.R88C|STYXL1_uc003uek.3_Missense_Mutation_p.R130C|STYXL1_uc003uel.2_Missense_Mutation_p.R226C|STYXL1_uc003uem.2_Missense_Mutation_p.R226C|STYXL1_uc010ldg.1_RNA|STYXL1_uc010ldh.1_Missense_Mutation_p.R226C|STYXL1_uc003uen.1_Missense_Mutation_p.R226C	p.R226C	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN			7	849	-			226			Tyrosine-protein phosphatase.		Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Missense_Mutation	SNP	ENST00000248600.1	37	c.676C>T	CCDS5580.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.486165	0.44147	.	.	ENSG00000127952	ENST00000248600;ENST00000359697;ENST00000340062;ENST00000404050;ENST00000431581;ENST00000454618;ENST00000451157	T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43	3.74	3.74	0.42951	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.393352	0.27739	N	0.018049	T	0.49712	0.1573	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.999;0.998	P;D;D;P;P;P	0.70716	0.857;0.91;0.97;0.862;0.849;0.892	T	0.50792	-0.8786	10	0.62326	D	0.03	-24.7563	11.3505	0.49585	0.0:0.0:1.0:0.0	.	226;226;226;130;226;130	Q9Y6J8-3;C9J4H0;Q9Y6J8-2;Q9Y6J8-4;Q9Y6J8;Q7Z3H6	.;.;.;.;STYL1_HUMAN;.	C	226;226;130;226;226;181;226	ENSP00000248600:R226C;ENSP00000352726:R226C;ENSP00000343383:R130C;ENSP00000392221:R226C;ENSP00000406073:R181C;ENSP00000411812:R226C	ENSP00000248600:R226C	R	-	1	0	STYXL1	75471033	0.151000	0.22747	0.891000	0.34965	0.189000	0.23516	1.556000	0.36288	2.397000	0.81536	0.563000	0.77884	CGC		0.557	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344825.1	NM_016086		23	80	0	0	0	0	23	80				
PCLO	27445	broad.mit.edu	37	7	82785121	82785121	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr7:82785121G>A	ENST00000333891.9	-	2	1173	c.836C>T	c.(835-837)tCc>tTc	p.S279F	PCLO_ENST00000423517.2_Missense_Mutation_p.S279F	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGAGGCCTGGATGCATCTCG	0.478																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(835-837)TCC>TTC		piccolo isoform 1							113.0	104.0	107.0					7																	82785121		2075	4218	6293	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82785121G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.836C>T	7.37:g.82785121G>A	ENSP00000334319:p.Ser279Phe					PCLO_uc003uhv.2_Missense_Mutation_p.S279F	p.S279F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			2	1125	-			279			Gln-rich.|Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.836C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252055	0.22880	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17854	2.25;2.25	5.26	4.38	0.52667	.	.	.	.	.	T	0.10981	0.0268	N	0.22421	0.69	0.09310	N	0.999998	P;P	0.36249	0.545;0.545	B;B	0.32533	0.147;0.147	T	0.19257	-1.0311	9	0.87932	D	0	.	6.9013	0.24285	0.088:0.0:0.6942:0.2178	.	279;279	Q9Y6V0-5;Q9Y6V0-6	.;.	F	279	ENSP00000334319:S279F;ENSP00000388393:S279F	ENSP00000334319:S279F	S	-	2	0	PCLO	82623057	0.032000	0.19561	0.055000	0.19348	0.918000	0.54935	1.530000	0.36007	1.214000	0.43395	0.655000	0.94253	TCC		0.478	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		50	64	0	0	0	0	50	64				
ZKSCAN5	23660	broad.mit.edu	37	7	99128811	99128811	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr7:99128811T>G	ENST00000394170.2	+	7	1710	c.1459T>G	c.(1459-1461)Tct>Gct	p.S487A	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.S487A|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.S487A	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	487					regulation of transcription, DNA-templated (GO:0006355)|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(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CATGGAACTATCTGGAAAAAC	0.348																																						uc003uqv.2		NA																	0				ovary(1)	1						c.(1459-1461)TCT>GCT		zinc finger with KRAB and SCAN domains 5							121.0	137.0	132.0					7																	99128811		2203	4300	6503	SO:0001583	missense	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99128811T>G	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.1459T>G	7.37:g.99128811T>G	ENSP00000377725:p.Ser487Ala					ZKSCAN5_uc010lfx.2_Missense_Mutation_p.S487A|ZKSCAN5_uc003uqw.2_Missense_Mutation_p.S487A|ZKSCAN5_uc003uqx.2_Missense_Mutation_p.S414A|ZKSCAN5_uc003uqy.2_Missense_Mutation_p.S223A	p.S487A	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN			7	1583	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		487					A4D280|D6W5S9	Missense_Mutation	SNP	ENST00000394170.2	37	c.1459T>G	CCDS5667.1	.	.	.	.	.	.	.	.	.	.	T	0.095	-1.161222	0.01673	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.07327	3.2;3.2;3.2	5.23	1.53	0.23141	.	0.280522	0.26013	N	0.026869	T	0.03651	0.0104	N	0.08118	0	0.24579	N	0.993887	B;B	0.20261	0.043;0.018	B;B	0.21360	0.034;0.034	T	0.35822	-0.9773	10	0.52906	T	0.07	.	3.4305	0.07426	0.1788:0.1834:0.0:0.6378	.	487;487	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	A	487	ENSP00000322872:S487A;ENSP00000392104:S487A;ENSP00000377725:S487A	ENSP00000322872:S487A	S	+	1	0	ZKSCAN5	98966747	0.468000	0.25839	0.219000	0.23793	0.788000	0.44548	1.319000	0.33655	0.180000	0.19960	0.482000	0.46254	TCT		0.348	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		111	219	0	0	0	0	111	219				
ARHGEF35	445328	broad.mit.edu	37	7	143884371	143884371	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr7:143884371A>G	ENST00000378115.2	-	2	1235	c.1106T>C	c.(1105-1107)gTc>gCc	p.V369A	ARHGEF35_ENST00000543357.1_Missense_Mutation_p.V369A	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35	369	Glu-rich.									kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						GCTGACTGGGACCCCTTTCTC	0.537																																						uc003wdz.1		NA																	0					0						c.(1105-1107)GTG>GCG		Rho guanine nucleotide exchange factor (GEF)							48.0	48.0	48.0					7																	143884371		1894	3560	5454	SO:0001583	missense	445328							g.chr7:143884371A>G	AK125680	CCDS34770.1	7q35	2012-07-24	2010-04-13	2010-04-13	ENSG00000213214	ENSG00000213214		"""Rho guanine nucleotide exchange factors"""	33846	protein-coding gene	gene with protein product			"""Rho guanine nucleotide exchange factor (GEF) 5-like"""	ARHGEF5L			Standard	NM_001003702		Approved	FLJ43692, CTAGE4	uc003wdz.2	A5YM69	OTTHUMG00000158010	ENST00000378115.2:c.1106T>C	7.37:g.143884371A>G	ENSP00000367355:p.Val369Ala						p.V369A	NM_001003702	NP_001003702	A5YM69	ARG35_HUMAN			2	1224	-			369			Glu-rich.		Q6ZUI2	Missense_Mutation	SNP	ENST00000378115.2	37	c.1106T>C	CCDS34770.1	.	.	.	.	.	.	.	.	.	.	.	0.095	-1.160651	0.01686	.	.	ENSG00000213214	ENST00000378115;ENST00000543357	.	.	.	2.34	-3.78	0.04333	.	.	.	.	.	T	0.12347	0.0300	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.23797	-1.0178	8	0.19147	T	0.46	.	0.3051	0.00279	0.4024:0.2247:0.1525:0.2204	.	369	A5YM69	ARG35_HUMAN	A	369	.	ENSP00000367355:V369A	V	-	2	0	ARHGEF35	143515304	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.968000	0.03817	-0.878000	0.04007	0.155000	0.16302	GTC		0.537	ARHGEF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349997.1	NM_001003702		4	95	0	0	0	0	4	95				
ST3GAL1	6482	broad.mit.edu	37	8	134474117	134474117	+	Splice_Site	SNP	C	C	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr8:134474117C>A	ENST00000319914.5	-	8	1877		c.e8+1		ST3GAL1_ENST00000399640.2_Splice_Site|ST3GAL1_ENST00000521180.1_Splice_Site|ST3GAL1_ENST00000522652.1_Splice_Site			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1						carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GGGTGGCATACCTCATCGCAG	0.597																																						uc003yuk.2		NA																	0					0						c.e9+1		ST3 beta-galactoside alpha-2,3-sialyltransferase							145.0	123.0	130.0					8																	134474117		2203	4300	6503	SO:0001630	splice_region_variant	6482				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr8:134474117C>A	L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"""Sialyltransferases"""	10862	protein-coding gene	gene with protein product	"""ST3Gal I"""	607187	"""sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.849+1G>T	8.37:g.134474117C>A						ST3GAL1_uc003yum.2_Splice_Site_p.E283_splice	p.E283_splice	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.00721)		9	1678	-	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)							O60677|Q9UN51	Splice_Site	SNP	ENST00000319914.5	37	c.849_splice	CCDS6373.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.327381	0.60743	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6592	0.88187	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ST3GAL1	134543299	1.000000	0.71417	0.996000	0.52242	0.420000	0.31355	7.765000	0.85310	2.494000	0.84150	0.655000	0.94253	.		0.597	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033	Intron	99	164	1	0	1.94e-47	2.23e-47	99	164				
APBA1	320	broad.mit.edu	37	9	72055946	72055946	+	Missense_Mutation	SNP	C	C	G	rs375280475		TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr9:72055946C>G	ENST00000265381.4	-	11	2489	c.2267G>C	c.(2266-2268)cGc>cCc	p.R756P		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	756	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GAGCTGGTAGCGAAGGTCTGG	0.453																																						uc004ahh.2		NA																	0				lung(1)	1						c.(2266-2268)CGC>CCC		amyloid beta A4 precursor protein-binding,							161.0	145.0	150.0					9																	72055946		2203	4300	6503	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72055946C>G	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.2267G>C	9.37:g.72055946C>G	ENSP00000265381:p.Arg756Pro						p.R756P	NM_001163	NP_001154	Q02410	APBA1_HUMAN			11	2543	-			756			PDZ 2.		O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.2267G>C	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484252	0.84854	.	.	ENSG00000107282	ENST00000265381	T	0.28069	1.63	5.91	5.91	0.95273	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.52757	0.1754	L	0.58669	1.825	0.80722	D	1	D	0.67145	0.996	P	0.62089	0.898	T	0.50398	-0.8833	10	0.87932	D	0	-14.5866	20.2985	0.98592	0.0:1.0:0.0:0.0	.	756	Q02410	APBA1_HUMAN	P	756	ENSP00000265381:R756P	ENSP00000265381:R756P	R	-	2	0	APBA1	71245766	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.244000	0.51399	2.793000	0.96121	0.655000	0.94253	CGC		0.453	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		32	234	0	0	0	0	32	234				
SPTAN1	6709	broad.mit.edu	37	9	131346592	131346592	+	Missense_Mutation	SNP	G	G	A	rs146412583		TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr9:131346592G>A	ENST00000372731.4	+	17	2335	c.2225G>A	c.(2224-2226)cGc>cAc	p.R742H	SPTAN1_ENST00000372739.3_Missense_Mutation_p.R742H|SPTAN1_ENST00000358161.5_Missense_Mutation_p.R742H	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	742					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ATTCAGGCCCGCCAGTTCCAA	0.483																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NA																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(2224-2226)CGC>CAC		spectrin, alpha, non-erythrocytic 1		G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	49.0	53.0	52.0		2225,2225,2225	5.5	1.0	9	dbSNP_134	52	0,8600		0,0,4300	no	missense,missense,missense	SPTAN1	NM_001130438.2,NM_001195532.1,NM_003127.3	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	742/2478,742/2453,742/2473	131346592	1,13005	2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131346592G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.2225G>A	9.37:g.131346592G>A	ENSP00000361816:p.Arg742His					SPTAN1_uc011mbg.1_Missense_Mutation_p.R742H|SPTAN1_uc011mbh.1_Missense_Mutation_p.R754H|SPTAN1_uc004bvm.3_Missense_Mutation_p.R742H|SPTAN1_uc004bvn.3_Missense_Mutation_p.R742H	p.R742H	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			17	2338	+			742			Spectrin 8.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.2225G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837378	0.91117	2.27E-4	0.0	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.35789	1.29;1.29;1.29	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.51753	0.1693	L	0.41632	1.29	0.58432	D	0.999997	D;D;D;D;D	0.76494	0.999;0.999;0.993;0.995;0.998	D;D;P;P;D	0.80764	0.991;0.994;0.68;0.892;0.93	T	0.46190	-0.9209	10	0.46703	T	0.11	.	16.5887	0.84759	0.0:0.0:1.0:0.0	.	742;742;742;742;742	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	H	742	ENSP00000350882:R742H;ENSP00000361816:R742H;ENSP00000361824:R742H	ENSP00000350882:R742H	R	+	2	0	SPTAN1	130386413	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.400000	0.97290	2.594000	0.87642	0.561000	0.74099	CGC		0.483	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		4	91	0	0	0	0	4	91				
TTF1	7270	broad.mit.edu	37	9	135273709	135273709	+	Silent	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr9:135273709G>A	ENST00000334270.2	-	4	1635	c.1596C>T	c.(1594-1596)gtC>gtT	p.V532V		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	532					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ATTTAATAGCGACACCTAGAA	0.393																																						uc004cbl.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(1594-1596)GTC>GTT		transcription termination factor, RNA polymerase							68.0	62.0	64.0					9																	135273709		2203	4300	6503	SO:0001819	synonymous_variant	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135273709G>A	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1596C>T	9.37:g.135273709G>A						TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Silent_p.V17V	p.V532V	NM_007344	NP_031370	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	4	1648	-		Myeloproliferative disorder(178;0.204)	532					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Silent	SNP	ENST00000334270.2	37	c.1596C>T	CCDS6948.1																																																																																				0.393	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		33	32	0	0	0	0	33	32				
SEC16A	9919	broad.mit.edu	37	9	139369094	139369094	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr9:139369094C>T	ENST00000371706.3	-	1	2473	c.2440G>A	c.(2440-2442)Gga>Aga	p.G814R	SEC16A_ENST00000431893.2_Missense_Mutation_p.G814R|SEC16A_ENST00000290037.6_Missense_Mutation_p.G814R|SEC16A_ENST00000313050.7_Missense_Mutation_p.G992R			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	814					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TCTAGGGCTCCGTAAGTGTCT	0.502																																						uc004chx.2		NA																	0					0						c.(2974-2976)GGA>AGA		SEC16 homolog A							32.0	33.0	33.0					9																	139369094		1936	4134	6070	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139369094C>T	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.2440G>A	9.37:g.139369094C>T	ENSP00000360771:p.Gly814Arg					SEC16A_uc004chv.3_Intron|SEC16A_uc004chw.2_Missense_Mutation_p.G992R|SEC16A_uc010nbn.2_Missense_Mutation_p.G992R|SEC16A_uc010nbo.1_Missense_Mutation_p.G992R	p.G992R	NM_014866	NP_055681	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	3	3283	-		Myeloproliferative disorder(178;0.0511)	814					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.2974G>A		.	.	.	.	.	.	.	.	.	.	C	15.44	2.833443	0.50951	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893	T;T;T;T	0.24538	1.86;1.85;1.85;1.85	5.65	4.75	0.60458	.	0.321557	0.33438	N	0.004902	T	0.33904	0.0879	M	0.69823	2.125	0.80722	D	1	D;D;D	0.56287	0.957;0.975;0.975	B;P;P	0.47603	0.349;0.551;0.551	T	0.14755	-1.0461	10	0.21540	T	0.41	-13.4416	13.6116	0.62083	0.0:0.9257:0.0:0.0743	.	992;814;814	F1T0I1;O15027-5;O15027-4	.;.;.	R	992;814;814;814	ENSP00000325827:G992R;ENSP00000360771:G814R;ENSP00000290037:G814R;ENSP00000387583:G814R	ENSP00000290037:G814R	G	-	1	0	SEC16A	138488915	0.878000	0.30173	0.619000	0.29118	0.092000	0.18411	1.930000	0.40124	1.523000	0.49018	0.655000	0.94253	GGA		0.502	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		19	34	0	0	0	0	19	34				
MAN1B1	11253	broad.mit.edu	37	9	139995566	139995566	+	Silent	SNP	C	C	G			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr9:139995566C>G	ENST00000371589.4	+	7	1099	c.1026C>G	c.(1024-1026)gcC>gcG	p.A342A	MAN1B1_ENST00000474902.1_Silent_p.A45A	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	342					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		TCCTGAGTGCCTACCACCTGT	0.552																																						uc004cld.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1024-1026)GCC>GCG		alpha 1,2-mannosidase							96.0	93.0	94.0					9																	139995566		2203	4300	6503	SO:0001819	synonymous_variant	11253				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr9:139995566C>G	AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"""endoplasmic reticulum alpha-mannosidase 1"", ""alpha 1,2-mannosidase"", ""endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1"", ""ER alpha 1,2-mannosidase"", ""Man9GlcNAc2-specific processing alpha-mannosidase"""	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.1026C>G	9.37:g.139995566C>G						MAN1B1_uc004clc.2_Silent_p.A243A|MAN1B1_uc011meo.1_Silent_p.A243A|MAN1B1_uc011mep.1_Silent_p.A342A|MAN1B1_uc010ncc.2_RNA|MAN1B1_uc004clf.1_5'Flank	p.A342A	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)	7	1061	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	342			Lumenal (Potential).		Q5VSG3|Q9BRS9|Q9Y5K7	Silent	SNP	ENST00000371589.4	37	c.1026C>G	CCDS7029.1	.	.	.	.	.	.	.	.	.	.	C	9.996	1.232153	0.22626	.	.	ENSG00000177239	ENST00000535144	.	.	.	5.65	3.79	0.43588	.	.	.	.	.	T	0.71576	0.3356	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70306	-0.4908	4	.	.	.	-2.8686	15.875	0.79154	0.0:0.7256:0.2744:0.0	.	.	.	.	V	316	.	.	L	+	1	2	MAN1B1	139115387	0.998000	0.40836	0.998000	0.56505	0.825000	0.46686	0.621000	0.24418	0.714000	0.32081	-0.127000	0.14921	CTA		0.552	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2	NM_016219		60	117	0	0	0	0	60	117				
MED12	9968	broad.mit.edu	37	X	70356303	70356303	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chrX:70356303G>A	ENST00000374080.3	+	37	5230	c.5198G>A	c.(5197-5199)cGg>cAg	p.R1733Q	MED12_ENST00000333646.6_Missense_Mutation_p.R1733Q|MED12_ENST00000374102.1_Missense_Mutation_p.R1733Q			Q93074	MED12_HUMAN	mediator complex subunit 12	1733	Interaction with CTNNB1 and GLI3.|Pro-rich.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CTGAGGCCCCGGCCCCGCGCC	0.642			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.2		NA		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(5197-5199)CGG>CAG		mediator complex subunit 12							23.0	28.0	26.0					X																	70356303		1908	4104	6012	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70356303G>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.5198G>A	X.37:g.70356303G>A	ENSP00000363193:p.Arg1733Gln					MED12_uc011mpq.1_Missense_Mutation_p.R1733Q|MED12_uc004dyz.2_Missense_Mutation_p.R1733Q|MED12_uc004dza.2_Missense_Mutation_p.R1580Q|MED12_uc010nla.2_Missense_Mutation_p.R359Q	p.R1733Q	NM_005120	NP_005111	Q93074	MED12_HUMAN			37	5397	+	Renal(35;0.156)		1733			Pro-rich.|Interaction with CTNNB1 and GLI3.		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.5198G>A	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	-	15.11	2.735928	0.49045	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	T;T;T;T;T	0.57907	0.38;0.38;0.38;0.37;1.49	4.17	4.17	0.49024	.	0.067442	0.64402	D	0.000016	T	0.31451	0.0797	L	0.39898	1.24	0.31197	N	0.700191	P;P;P;P	0.43352	0.681;0.804;0.792;0.688	B;B;B;B	0.25759	0.063;0.029;0.063;0.029	T	0.51458	-0.8703	10	0.66056	D	0.02	-20.6685	4.6583	0.12630	0.3102:0.0:0.6898:0.0	.	1733;1580;1733;1733	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	Q	1733;1733;1733;1733;1701;478	ENSP00000333125:R1733Q;ENSP00000363215:R1733Q;ENSP00000363193:R1733Q;ENSP00000414203:R1701Q;ENSP00000408388:R478Q	ENSP00000333125:R1733Q	R	+	2	0	MED12	70273028	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.393000	0.59665	2.085000	0.62840	0.529000	0.55759	CGG		0.642	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		14	4	0	0	0	0	14	4				
LRCH2	57631	broad.mit.edu	37	X	114357668	114357668	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chrX:114357668C>T	ENST00000317135.8	-	18	1967	c.1937G>A	c.(1936-1938)cGa>cAa	p.R646Q	LRCH2_ENST00000538422.1_Missense_Mutation_p.R629Q	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	646	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TATTTGCTCTCGCTCTTCCCG	0.408																																						uc010nqe.2		NA																	0				ovary(1)	1						c.(1936-1938)CGA>CAA		leucine-rich repeats and calponin homology (CH)							160.0	134.0	142.0					X																	114357668		1907	4114	6021	SO:0001583	missense	57631							g.chrX:114357668C>T	AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.1937G>A	X.37:g.114357668C>T	ENSP00000325091:p.Arg646Gln					LRCH2_uc004epz.2_Missense_Mutation_p.R629Q	p.R646Q	NM_020871	NP_065922	Q5VUJ6	LRCH2_HUMAN			18	1968	-			646			CH.		F5H2T1|Q08AD5|Q9HA88|Q9P233	Missense_Mutation	SNP	ENST00000317135.8	37	c.1937G>A	CCDS48155.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468150	0.43839	.	.	ENSG00000130224	ENST00000317135;ENST00000536655;ENST00000538422	T;T	0.00816	5.67;5.66	5.31	5.31	0.75309	Calponin homology domain (3);	0.186759	0.43919	D	0.000517	T	0.01695	0.0054	N	0.19112	0.55	0.40553	D	0.981138	D;B	0.69078	0.997;0.414	P;B	0.54815	0.761;0.093	T	0.80872	-0.1188	10	0.27082	T	0.32	-9.0887	16.4513	0.83991	0.0:1.0:0.0:0.0	.	646;629	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	Q	646;125;629	ENSP00000325091:R646Q;ENSP00000439366:R629Q	ENSP00000325091:R646Q	R	-	2	0	LRCH2	114263924	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.062000	0.57492	2.453000	0.82957	0.544000	0.68410	CGA		0.408	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2	NM_020871		14	13	0	0	0	0	14	13				
PTPN14	5784	broad.mit.edu	37	1	214557049	214557051	+	In_Frame_Del	DEL	CCT	CCT	-	rs143136196|rs376331360|rs189081489|rs539310988	byFrequency	TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:214557049_214557051delCCT	ENST00000366956.5	-	13	2341_2343	c.2147_2149delAGG	c.(2146-2151)gaggct>gct	p.E716del	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	716	Poly-Glu.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.E716delE(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GATTCTGGAGCCTCCTCCTCCTC	0.626																																					Colon(92;557 1424 24372 34121 40073)	uc001hkk.1		NA																	1	Deletion - In frame(1)		liver(1)	breast(2)|ovary(1)|kidney(1)|skin(1)	5						c.(2146-2151)GAGGCT>GCT		protein tyrosine phosphatase, non-receptor type																																				SO:0001651	inframe_deletion	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557049_214557051delCCT	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2147_2149delAGG	1.37:g.214557058_214557060delCCT	ENSP00000355923:p.Glu716del					PTPN14_uc010pty.1_In_Frame_Del_p.E617del	p.E716del	NM_005401	NP_005392	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2418_2420	-			716			Poly-Glu.		Q5VSI0	In_Frame_Del	DEL	ENST00000366956.5	37	c.2147_2149delAGG	CCDS1514.1																																																																																				0.626	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		8	159	NA	NA	NA	NA	8	159	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47700125	47700126	+	Frame_Shift_Ins	INS	-	-	CCAC			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr17:47700125_47700126insCCAC	ENST00000393328.2	-	3	412_413	c.47_48insGTGG	c.(46-48)ggcfs	p.-16fs	SPOP_ENST00000393331.3_Frame_Shift_Ins_p.-16fs|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000504102.1_Frame_Shift_Ins_p.-16fs|SPOP_ENST00000503676.1_Frame_Shift_Ins_p.-16fs|SPOP_ENST00000347630.2_Frame_Shift_Ins_p.-16fs	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein						glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAGCTACGGGGCCACTCGACAT	0.495										Prostate(2;0.17)																												uc010dbk.2		NA																	0				prostate(2)|ovary(2)|lung(2)	6						c.(46-48)GGCfs		speckle-type POZ protein																																				SO:0001589	frameshift_variant	8405				mRNA processing	nucleus	protein binding	g.chr17:47700125_47700126insCCAC	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.44_47dupGTGG	17.37:g.47700126_47700129dupCCAC	ENSP00000377001:p.Gly16fs	Prostate(2;0.17)				SPOP_uc002ipb.2_Frame_Shift_Ins_p.G16fs|SPOP_uc002ipc.2_Frame_Shift_Ins_p.G16fs|SPOP_uc002ipd.2_Frame_Shift_Ins_p.G16fs|SPOP_uc002ipe.2_Frame_Shift_Ins_p.G16fs|SPOP_uc002ipf.2_Frame_Shift_Ins_p.G16fs|SPOP_uc002ipg.2_Frame_Shift_Ins_p.G16fs|SPOP_uc010wlx.1_RNA	p.G16fs	NM_003563	NP_003554	O43791	SPOP_HUMAN			3	679_680	-			16					B2R6S3|D3DTW7|Q53HJ1	Frame_Shift_Ins	INS	ENST00000393328.2	37	c.47_48insGTGG	CCDS11551.1																																																																																				0.495	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		26	266	NA	NA	NA	NA	26	266	---	---	---	---
ZNF791	163049	broad.mit.edu	37	19	12740051	12740051	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr19:12740051delC	ENST00000343325.4	+	4	1870	c.1708delC	c.(1708-1710)catfs	p.H570fs	ZNF791_ENST00000458122.3_Frame_Shift_Del_p.H538fs|AC010422.1_ENST00000408416.1_RNA|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Frame_Shift_Del_p.H461fs	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	570					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						CTTAAAAAAACATATGAGAAT	0.338																																						uc002mua.2		NA																	0				ovary(2)	2						c.(1708-1710)CATfs		zinc finger protein 791							54.0	58.0	57.0					19																	12740051		2202	4300	6502	SO:0001589	frameshift_variant	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12740051delC	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.1708delC	19.37:g.12740051delC	ENSP00000342974:p.His570fs					ZNF791_uc010xml.1_Frame_Shift_Del_p.H538fs|ZNF791_uc010dyu.1_Frame_Shift_Del_p.H461fs|ZNF791_uc010xmm.1_Frame_Shift_Del_p.H461fs	p.H570fs	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN			4	1870	+			570			C2H2-type 17.		B7Z586|Q8NC99	Frame_Shift_Del	DEL	ENST00000343325.4	37	c.1708delC	CCDS12273.1																																																																																				0.338	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		26	92	NA	NA	NA	NA	26	92	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73718322	73718322	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr2:73718322delT	ENST00000264448.6	+	10	9344	c.9233delT	c.(9232-9234)atgfs	p.M3078fs	AC096546.1_ENST00000408160.1_RNA|ALMS1_ENST00000409009.1_Frame_Shift_Del_p.M3036fs	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3078					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAAGCGAGGATGAATAGTGAG	0.383																																						uc002sje.1		NA																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(9238-9240)ATGfs		Alstrom syndrome 1							95.0	87.0	90.0					2																	73718322		1888	4115	6003	SO:0001589	frameshift_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73718322delT	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.9233delT	2.37:g.73718322delT	ENSP00000264448:p.Met3078fs					ALMS1_uc002sjf.1_Frame_Shift_Del_p.M3036fs|ALMS1_uc002sjg.2_Frame_Shift_Del_p.M2466fs|ALMS1_uc002sjh.1_Frame_Shift_Del_p.M2466fs	p.M3080fs	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			12	9350	+			3078					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Frame_Shift_Del	DEL	ENST00000264448.6	37	c.9239delT	CCDS42697.1																																																																																				0.383	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		62	124	NA	NA	NA	NA	62	124	---	---	---	---
TBC1D10A	83874	broad.mit.edu	37	22	30688463	30688478	+	Frame_Shift_Del	DEL	GGGGGCTGAGTCCTTC	GGGGGCTGAGTCCTTC	-	rs530980848|rs146725573	byFrequency	TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr22:30688463_30688478delGGGGGCTGAGTCCTTC	ENST00000215790.7	-	9	1577_1592	c.1413_1428delGAAGGACTCAGCCCCC	c.(1411-1428)ccgaaggactcagcccccfs	p.PKDSAP471fs	GATSL3_ENST00000407689.3_5'Flank|TBC1D10A_ENST00000403362.1_Frame_Shift_Del_p.PKDSAP383fs|TBC1D10A_ENST00000403477.3_Frame_Shift_Del_p.PKDSAP478fs|RP1-130H16.18_ENST00000447976.1_Intron|GATSL3_ENST00000404953.3_5'Flank	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	471					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CTGAGTCCTTGGGGGCTGAGTCCTTCGGGGGCACAT	0.62																																						uc011akt.1		NA																	0				ovary(1)	1						c.(1411-1428)CCGAAGGACTCAGCCCCCfs		TBC1 domain family, member 10A																																				SO:0001589	frameshift_variant	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30688463_30688478delGGGGGCTGAGTCCTTC	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.1413_1428delGAAGGACTCAGCCCCC	22.37:g.30688463_30688478delGGGGGCTGAGTCCTTC	ENSP00000215790:p.Pro471fs					GATSL3_uc003ahc.2_5'Flank|GATSL3_uc003ahe.2_5'Flank|GATSL3_uc003ahd.2_5'Flank|GATSL3_uc003ahf.2_Intron|GATSL3_uc003ahg.2_Intron|GATSL3_uc003ahh.2_Intron|GATSL3_uc010gvq.2_Intron|GATSL3_uc003ahi.2_Intron|GATSL3_uc010gvr.2_5'Flank|GATSL3_uc010gvs.2_5'Flank|TBC1D10A_uc003ahj.3_Frame_Shift_Del_p.P383fs|TBC1D10A_uc010gvu.2_Frame_Shift_Del_p.P478fs|TBC1D10A_uc003ahk.3_Frame_Shift_Del_p.P471fs	p.P471fs	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN			11	1437_1452	-			471_476					B3KXT8|O76053|Q20WK7|Q543A2	Frame_Shift_Del	DEL	ENST00000215790.7	37	c.1413_1428delGAAGGACTCAGCCCCC	CCDS13874.1																																																																																				0.620	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		44	288	NA	NA	NA	NA	44	288	---	---	---	---
