#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	7724491	7724491	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:7724491G>A	ENST00000303635.7	+	9	2091	c.1884G>A	c.(1882-1884)gaG>gaA	p.E628E	CAMTA1_ENST00000439411.2_Silent_p.E628E	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	628					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)		TCCCCGTCGAGCAGAACACCC	0.652			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.(1882-1884)GAG>GAA		calmodulin-binding transcription activator 1							106.0	123.0	117.0					1																	7724491		2203	4299	6502	SO:0001819	synonymous_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7724491G>A	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.1884G>A	1.37:g.7724491G>A							p.E628E	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)	9	2091	+	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)	628					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	c.1884G>A	CCDS30576.1																																																																																				0.652	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		4	219	0	0	0	0	4	219				
COL11A1	1301	broad.mit.edu	37	1	103444279	103444279	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:103444279G>A	ENST00000370096.3	-	35	3051	c.2739C>T	c.(2737-2739)ggC>ggT	p.G913G	COL11A1_ENST00000512756.1_Silent_p.G797G|COL11A1_ENST00000353414.4_Silent_p.G874G|COL11A1_ENST00000358392.2_Silent_p.G925G	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	913	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CACCTGGAGGGCCAGGAGGGC	0.383																																						uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(2737-2739)GGC>GGT		alpha 1 type XI collagen isoform A							98.0	115.0	109.0					1																	103444279		2200	4299	6499	SO:0001819	synonymous_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103444279G>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2739C>T	1.37:g.103444279G>A						COL11A1_uc001duk.2_Silent_p.G109G|COL11A1_uc001dum.2_Silent_p.G925G|COL11A1_uc001dun.2_Silent_p.G874G|COL11A1_uc009weh.2_Silent_p.G797G	p.G913G	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	35	3057	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	913			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.2739C>T	CCDS778.1																																																																																				0.383	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		24	158	0	0	0	0	24	158				
HRNR	388697	broad.mit.edu	37	1	152190959	152190959	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:152190959C>G	ENST00000368801.2	-	3	3221	c.3146G>C	c.(3145-3147)gGc>gCc	p.G1049A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1049					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGACCTAAGCCAGAAGAGTG	0.562																																						uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(3145-3147)GGC>GCC		hornerin							104.0	120.0	115.0					1																	152190959		2203	4297	6500	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152190959C>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.3146G>C	1.37:g.152190959C>G	ENSP00000357791:p.Gly1049Ala						p.G1049A	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3222	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1049			12		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.3146G>C	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	5.078	0.200086	0.09652	.	.	ENSG00000197915	ENST00000368801	T	0.01947	4.54	3.09	2.16	0.27623	.	.	.	.	.	T	0.00580	0.0019	L	0.50333	1.59	0.09310	N	1	P	0.34977	0.478	B	0.28553	0.091	T	0.42378	-0.9455	9	0.07175	T	0.84	.	5.2584	0.15559	0.0:0.7208:0.0:0.2792	.	1049	Q86YZ3	HORN_HUMAN	A	1049	ENSP00000357791:G1049A	ENSP00000357791:G1049A	G	-	2	0	HRNR	150457583	0.002000	0.14202	0.000000	0.03702	0.014000	0.08584	1.648000	0.37271	0.624000	0.30286	0.461000	0.40582	GGC		0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		50	223	0	0	0	0	50	223				
FCGR3A	2214	broad.mit.edu	37	1	161596179	161596179	+	Intron	SNP	G	G	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:161596179G>C	ENST00000540048.1	-	2	94				FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR3B_ENST00000294800.3_Silent_p.L111L|FCGR2B_ENST00000367960.5_Intron|FCGR3B_ENST00000531221.1_Silent_p.L147L|FCGR3B_ENST00000367964.2_Silent_p.L111L			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAGGGGCCTGGAGCAACAGCC	0.562																																						uc009wul.2		NA																	0					0						c.(331-333)CTC>CTG		low affinity immunoglobulin gamma Fc region	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						36.0	39.0	38.0					1																	161596179		2191	4299	6490	SO:0001627	intron_variant	2215				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity	g.chr1:161596179G>C	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+3978C>G	1.37:g.161596179G>C							p.L111L	NM_000570	NP_000561	O75015	FCG3B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	607	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		111					A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Silent	SNP	ENST00000540048.1	37	c.333C>G		.	.	.	.	.	.	.	.	.	.	-	10.91	1.484519	0.26598	.	.	ENSG00000162747	ENST00000421702	.	.	.	2.47	0.395	0.16304	.	.	.	.	.	T	0.33644	0.0870	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.19712	-1.0297	4	.	.	.	.	4.3899	0.11335	0.3788:0.0:0.6212:0.0	.	.	.	.	A	132	.	.	P	-	1	0	FCGR3B	159862803	1.000000	0.71417	0.729000	0.30791	0.825000	0.46686	0.580000	0.23803	-0.037000	0.13646	0.393000	0.25936	CCA		0.562	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569		4	27	0	0	0	0	4	27				
GLRX2	51022	broad.mit.edu	37	1	193070317	193070317	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:193070317G>A	ENST00000367439.3	-	2	185	c.137C>T	c.(136-138)tCa>tTa	p.S46L	GLRX2_ENST00000472197.1_5'UTR|GLRX2_ENST00000367440.3_Missense_Mutation_p.S47L	NM_197962.2	NP_932066.1	Q9NS18	GLRX2_HUMAN	glutaredoxin 2	46					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|DNA protection (GO:0042262)|glutathione metabolic process (GO:0006749)|protein folding (GO:0006457)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|response to hydrogen peroxide (GO:0042542)|response to organic substance (GO:0010033)|response to redox state (GO:0051775)|response to temperature stimulus (GO:0009266)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	2 iron, 2 sulfur cluster binding (GO:0051537)|arsenate reductase (glutaredoxin) activity (GO:0008794)|electron carrier activity (GO:0009055)|glutathione disulfide oxidoreductase activity (GO:0015038)|metal ion binding (GO:0046872)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|large_intestine(1)|lung(3)	5					Glutathione(DB00143)	CAAAGATGATGATGTATTGCT	0.343																																						uc001gsz.1		NA																	0					0						c.(136-138)TCA>TTA		glutaredoxin 2 isoform 2	Glutathione(DB00143)						71.0	68.0	69.0					1																	193070317		2203	4300	6503	SO:0001583	missense	51022				apoptosis|cell differentiation|cell redox homeostasis|DNA protection|electron transport chain|glutathione metabolic process|protein thiol-disulfide exchange|regulation of signal transduction|regulation of transcription, DNA-dependent|response to hydrogen peroxide|response to organic substance|response to redox state|response to temperature stimulus|transport	mitochondrion|nucleus	2 iron, 2 sulfur cluster binding|arsenate reductase (glutaredoxin) activity|electron carrier activity|glutathione disulfide oxidoreductase activity|metal ion binding|protein disulfide oxidoreductase activity	g.chr1:193070317G>A	AF132495	CCDS1380.1, CCDS1381.1	1q31.2	2012-09-20			ENSG00000023572	ENSG00000023572			16065	protein-coding gene	gene with protein product	"""bA101E13.1 (GRX2 glutaredoxin (thioltransferase) 2)"""	606820				11297543	Standard	NM_016066		Approved	GRX2, bA101E13.1	uc001gsz.2	Q9NS18	OTTHUMG00000035677	ENST00000367439.3:c.137C>T	1.37:g.193070317G>A	ENSP00000356409:p.Ser46Leu					GLRX2_uc001gta.1_Missense_Mutation_p.S47L	p.S46L	NM_197962	NP_932066	Q9NS18	GLRX2_HUMAN			2	181	-			46					Q3LR69|Q7L1N7|Q96JC0|Q9Y3D4	Missense_Mutation	SNP	ENST00000367439.3	37	c.137C>T	CCDS1381.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198461	0.58126	.	.	ENSG00000023572	ENST00000367439;ENST00000367440	T;T	0.35236	1.38;1.32	5.18	3.31	0.37934	.	0.513049	0.21933	N	0.066983	T	0.34395	0.0896	M	0.62723	1.935	0.09310	N	1	B;P	0.39060	0.297;0.657	B;B	0.37650	0.135;0.255	T	0.21655	-1.0239	10	0.59425	D	0.04	-10.7722	9.151	0.36962	0.173:0.0:0.827:0.0	.	47;46	Q9NS18-2;Q9NS18	.;GLRX2_HUMAN	L	46;47	ENSP00000356409:S46L;ENSP00000356410:S47L	ENSP00000356409:S46L	S	-	2	0	GLRX2	191336940	0.443000	0.25641	0.006000	0.13384	0.049000	0.14656	4.372000	0.59530	0.682000	0.31407	0.655000	0.94253	TCA		0.343	GLRX2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086699.1	NM_016066		15	47	0	0	0	0	15	47				
WNT9A	7483	broad.mit.edu	37	1	228111988	228111988	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:228111988C>T	ENST00000272164.5	-	3	476	c.466G>A	c.(466-468)Gac>Aac	p.D156N		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	156					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				TTCTCCAGGTCGGGTGCCTCA	0.632																																						uc001hri.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(466-468)GAC>AAC		wingless-type MMTV integration site family,							98.0	96.0	97.0					1																	228111988		2203	4300	6503	SO:0001583	missense	7483				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	g.chr1:228111988C>T	AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"""Wingless-type MMTV integration sites"""	12778	protein-coding gene	gene with protein product		602863	"""wingless-type MMTV integration site family, member 14"""	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.466G>A	1.37:g.228111988C>T	ENSP00000272164:p.Asp156Asn						p.D156N	NM_003395	NP_003386	O14904	WNT9A_HUMAN			3	554	-		Prostate(94;0.0405)	156					A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Missense_Mutation	SNP	ENST00000272164.5	37	c.466G>A	CCDS31045.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.524938	0.64747	.	.	ENSG00000143816	ENST00000272164	T	0.75260	-0.92	4.78	4.78	0.61160	.	0.052821	0.64402	D	0.000001	T	0.67859	0.2938	N	0.19112	0.55	0.53005	D	0.999969	P	0.52170	0.951	P	0.49276	0.605	T	0.67114	-0.5752	10	0.27082	T	0.32	.	16.8134	0.85727	0.0:1.0:0.0:0.0	.	156	O14904	WNT9A_HUMAN	N	156	ENSP00000272164:D156N	ENSP00000272164:D156N	D	-	1	0	WNT9A	226178611	0.998000	0.40836	0.963000	0.40424	0.793000	0.44817	3.975000	0.56859	2.195000	0.70347	0.491000	0.48974	GAC		0.632	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	NM_003395		29	89	0	0	0	0	29	89				
RYR2	6262	broad.mit.edu	37	1	237670089	237670089	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:237670089T>C	ENST00000366574.2	+	23	3010	c.2693T>C	c.(2692-2694)aTt>aCt	p.I898T	RYR2_ENST00000542537.1_Missense_Mutation_p.I882T|RYR2_ENST00000360064.6_Missense_Mutation_p.I896T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	898	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGAATAAAATTGAGCTTGGC	0.333																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(2692-2694)ATT>ACT		cardiac muscle ryanodine receptor							116.0	117.0	116.0					1																	237670089		1823	4078	5901	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237670089T>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2693T>C	1.37:g.237670089T>C	ENSP00000355533:p.Ile898Thr						p.I898T	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		23	2813	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	898			Cytoplasmic (By similarity).|1.|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.2693T>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.312259	0.81358	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.91945	-2.94;-2.94;-2.94	5.49	5.49	0.81192	Ryanodine receptor Ryr (1);	0.085006	0.43919	D	0.000510	D	0.95548	0.8553	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95957	0.8959	10	0.72032	D	0.01	.	15.5707	0.76333	0.0:0.0:0.0:1.0	.	898	Q92736	RYR2_HUMAN	T	898;896;882	ENSP00000355533:I898T;ENSP00000353174:I896T;ENSP00000443798:I882T	ENSP00000353174:I896T	I	+	2	0	RYR2	235736712	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	2.076000	0.62316	0.477000	0.44152	ATT		0.333	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		7	34	0	0	0	0	7	34				
ZNF496	84838	broad.mit.edu	37	1	247473644	247473644	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:247473644C>T	ENST00000294753.4	-	6	1230	c.766G>A	c.(766-768)Ggg>Agg	p.G256R	ZNF496_ENST00000366498.2_Missense_Mutation_p.G292R|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	256	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			ATTGAGACCCCGTAATCCTCC	0.493																																						uc001ico.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(766-768)GGG>AGG		zinc finger protein 496							81.0	69.0	73.0					1																	247473644		2203	4300	6503	SO:0001583	missense	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247473644C>T	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.766G>A	1.37:g.247473644C>T	ENSP00000294753:p.Gly256Arg					ZNF496_uc009xgv.2_Missense_Mutation_p.G292R|ZNF496_uc001icp.2_Missense_Mutation_p.G256R|ZNF496_uc001icq.1_Missense_Mutation_p.G31R|ZNF496_uc010pyv.1_Missense_Mutation_p.G256R	p.G256R	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		6	1231	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		256			KRAB.		Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	c.766G>A	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	C	7.775	0.708278	0.15239	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.00724	5.78;5.78	3.65	2.73	0.32206	Krueppel-associated box (3);	0.349077	0.20861	N	0.084353	T	0.01287	0.0042	N	0.15975	0.35	0.09310	N	1	D;D	0.76494	0.999;0.997	D;P	0.64776	0.929;0.738	T	0.54781	-0.8242	10	0.72032	D	0.01	-17.0883	7.2629	0.26214	0.0:0.8761:0.0:0.1239	.	292;256	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	R	256;292	ENSP00000294753:G256R;ENSP00000355454:G292R	ENSP00000294753:G256R	G	-	1	0	ZNF496	245540267	0.124000	0.22315	0.104000	0.21259	0.337000	0.28794	2.971000	0.49248	0.887000	0.36136	-0.150000	0.13652	GGG		0.493	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		15	49	0	0	0	0	15	49				
GTPBP4	23560	broad.mit.edu	37	10	1046661	1046661	+	Silent	SNP	G	G	A	rs138136568		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr10:1046661G>A	ENST00000360803.4	+	7	781	c.699G>A	c.(697-699)agG>agA	p.R233R	GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000538293.1_Silent_p.R117R|GTPBP4_ENST00000545048.1_Silent_p.R186R	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	233	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TGGAGGATAGGAACACCATCG	0.567																																						uc001ift.2		NA																	0				ovary(1)|skin(1)	2						c.(697-699)AGG>AGA		G protein-binding protein CRFG		G		0,4406		0,0,2203	150.0	115.0	127.0		699	3.2	1.0	10	dbSNP_134	127	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GTPBP4	NM_012341.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		233/635	1046661	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23560				negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr10:1046661G>A	AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.699G>A	10.37:g.1046661G>A						GTPBP4_uc010qac.1_Silent_p.R24R|GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Silent_p.R117R|GTPBP4_uc010qae.1_Silent_p.R186R	p.R233R	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)	7	770	+		all_epithelial(10;0.107)|Colorectal(49;0.14)	233					B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Silent	SNP	ENST00000360803.4	37	c.699G>A	CCDS31132.1																																																																																				0.567	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		7	24	0	0	0	0	7	24				
DNAJC1	64215	broad.mit.edu	37	10	22048519	22048519	+	Silent	SNP	C	C	T	rs148336959		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr10:22048519C>T	ENST00000376980.3	-	11	1466	c.1176G>A	c.(1174-1176)tcG>tcA	p.S392S	DNAJC1_ENST00000483085.1_5'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	392					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				TCTGAACTGTCGATTTGAGTT	0.562																																						uc001irc.2		NA																	0				lung(1)	1						c.(1174-1176)TCG>TCA		DnaJ (Hsp40) homolog, subfamily C, member 1		C		0,4406		0,0,2203	52.0	47.0	49.0		1176	-11.2	0.0	10	dbSNP_134	49	2,8596		0,2,4297	no	coding-synonymous	DNAJC1	NM_022365.3		0,2,6500	TT,TC,CC		0.0233,0.0,0.0154		392/555	22048519	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	64215				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding	g.chr10:22048519C>T	AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"""Heat shock proteins / DNAJ (HSP40)"""	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1176G>A	10.37:g.22048519C>T						DNAJC1_uc001ird.2_Silent_p.S278S	p.S392S	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN			11	1463	-		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)	392			Cytoplasmic (By similarity).		B0YIZ8|Q5VX89|Q9H6B8	Silent	SNP	ENST00000376980.3	37	c.1176G>A	CCDS7136.1																																																																																				0.562	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	NM_022365		14	30	0	0	0	0	14	30				
BMS1	9790	broad.mit.edu	37	10	43318651	43318651	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr10:43318651A>G	ENST00000374518.5	+	20	3281	c.3218A>G	c.(3217-3219)aAa>aGa	p.K1073R		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1073					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CAGATCAAGAAAGCACTCCGA	0.498																																						uc001jaj.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(3217-3219)AAA>AGA		BMS1-like, ribosome assembly protein							73.0	76.0	75.0					10																	43318651		2203	4300	6503	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43318651A>G	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3218A>G	10.37:g.43318651A>G	ENSP00000363642:p.Lys1073Arg						p.K1073R	NM_014753	NP_055568	Q14692	BMS1_HUMAN			20	3576	+			1073					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.3218A>G	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	A	19.19	3.780447	0.70222	.	.	ENSG00000165733	ENST00000374518	T	0.17528	2.27	4.54	4.54	0.55810	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.25494	0.0620	L	0.46614	1.455	0.58432	D	0.999998	P	0.51537	0.946	P	0.53146	0.719	T	0.01537	-1.1330	10	0.26408	T	0.33	.	14.2326	0.65903	1.0:0.0:0.0:0.0	.	1073	Q14692	BMS1_HUMAN	R	1073	ENSP00000363642:K1073R	ENSP00000363642:K1073R	K	+	2	0	BMS1	42638657	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.026000	0.93700	1.825000	0.53177	0.373000	0.22412	AAA		0.498	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		3	88	0	0	0	0	3	88				
ZNF365	22891	broad.mit.edu	37	10	64416233	64416233	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr10:64416233C>T	ENST00000395251.1	+	5	803	c.469C>T	c.(469-471)Cag>Tag	p.Q157*	ZNF365_ENST00000410046.3_Nonsense_Mutation_p.Q403*|AC067751.1_ENST00000579246.1_RNA|ZNF365_ENST00000395249.1_Intron	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	157										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					cttaggactccaggactttga	0.443																																						uc001jmd.1		NA																	0				ovary(1)|skin(1)	2						c.(469-471)CAG>TAG		zinc finger protein 365 isoform D							183.0	147.0	160.0					10																	64416233		2203	4300	6503	SO:0001587	stop_gained	22891							g.chr10:64416233C>T	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.469C>T	10.37:g.64416233C>T	ENSP00000378672:p.Gln157*					ZNF365_uc001jmc.2_Nonsense_Mutation_p.Q403*|ZNF365_uc001jme.1_RNA|ZNF365_uc001jmf.1_Intron|ZNF365_uc009xpg.1_RNA	p.Q157*	NM_199452	NP_955524	Q70YC4	TALAN_HUMAN			5	803	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		157						Nonsense_Mutation	SNP	ENST00000395251.1	37	c.469C>T	CCDS7265.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064705	0.55432	.	.	ENSG00000138311	ENST00000410046;ENST00000395251	.	.	.	0.593	0.593	0.17478	.	19.362300	0.00166	N	0.000000	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.1313	.	.	.	.	.	.	.	X	403;157	.	ENSP00000378672:Q157X	Q	+	1	0	ZNF365	64086239	0.010000	0.17322	0.008000	0.14137	0.004000	0.04260	0.468000	0.22051	0.579000	0.29504	0.585000	0.79938	CAG		0.443	ZNF365-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277036.1	NM_014951		9	28	0	0	0	0	9	28				
GOT1	2805	broad.mit.edu	37	10	101165514	101165514	+	Splice_Site	SNP	T	T	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr10:101165514T>G	ENST00000370508.5	-	5	668	c.641A>C	c.(640-642)aAg>aCg	p.K214T	GOT1_ENST00000543866.1_Splice_Site_p.K193T	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	214					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	GGCAGTTACCTTCATGACAGA	0.438																																					Melanoma(173;770 3544 21601)	uc001kpr.2		NA																	0					0						c.(640-642)AAG>ACG		aspartate aminotransferase 1	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						72.0	69.0	70.0					10																	101165514		2203	4300	6503	SO:0001630	splice_region_variant	2805				aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr10:101165514T>G	M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"""aspartate aminotransferase 1"", ""aspartate transaminase 1"""	138180	"""glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"""			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.642+1A>C	10.37:g.101165514T>G						GOT1_uc009xwh.2_RNA|GOT1_uc001kpq.1_5'UTR	p.K214T	NM_002079	NP_002070	P17174	AATC_HUMAN		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	5	849	-		Ovarian(717;0.028)|Colorectal(252;0.234)	214					B2R6R7|B7Z7E9|Q5VW80	Missense_Mutation	SNP	ENST00000370508.5	37	c.641A>C	CCDS7479.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.427072	0.83667	.	.	ENSG00000120053	ENST00000370508;ENST00000535447;ENST00000543866	D;D	0.91295	-2.82;-2.82	5.95	5.95	0.96441	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.137804	0.64402	D	0.000004	D	0.92479	0.7612	M	0.87617	2.895	0.58432	D	0.999995	B	0.23058	0.079	B	0.28139	0.086	D	0.90677	0.4602	10	0.72032	D	0.01	-17.1546	16.4159	0.83738	0.0:0.0:0.0:1.0	.	214	P17174	AATC_HUMAN	T	214;167;193	ENSP00000359539:K214T;ENSP00000445578:K193T	ENSP00000359539:K214T	K	-	2	0	GOT1	101155504	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	5.092000	0.64511	2.279000	0.76181	0.533000	0.62120	AAG		0.438	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079	Missense_Mutation	5	56	0	0	0	0	5	56				
BLOC1S2	282991	broad.mit.edu	37	10	102045960	102045960	+	Silent	SNP	G	G	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr10:102045960G>C	ENST00000370372.2	-	2	118	c.66C>G	c.(64-66)gcC>gcG	p.A22A	BLOC1S2_ENST00000441611.1_5'UTR|BLOC1S2_ENST00000361832.2_5'UTR	NM_173809.4	NP_776170.2	Q6QNY1	BL1S2_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 2	22					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|melanosome organization (GO:0032438)|microtubule nucleation (GO:0007020)|mitochondrial outer membrane permeabilization (GO:0097345)|neuron projection development (GO:0031175)|platelet dense granule organization (GO:0060155)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	BLOC-1 complex (GO:0031083)|centrosome (GO:0005813)|gamma-tubulin complex (GO:0000930)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	gamma-tubulin binding (GO:0043015)|protein C-terminus binding (GO:0008022)			large_intestine(1)|lung(2)|ovary(1)	4		Colorectal(252;0.117)		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)		CTGTCTCCACGGCGGCATCGT	0.572																																						uc001kqw.1		NA																	0				ovary(1)	1						c.(64-66)GCC>GCG		biogenesis of lysosome-related organelles							71.0	61.0	64.0					10																	102045960		2203	4300	6503	SO:0001819	synonymous_variant	282991				melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis	BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus	gamma-tubulin binding|identical protein binding|protein C-terminus binding	g.chr10:102045960G>C	AK054697	CCDS7490.1, CCDS73179.1	10q24.31	2012-08-01	2008-08-11		ENSG00000196072	ENSG00000196072		"""Biogenesis of lysosomal organelles complex-1 subunits"""	20984	protein-coding gene	gene with protein product	"""centrosome protein oncogene"", ""Biogenesis of Lysosome-related Organelles complex-1 Subunit 2"", ""BLOC-1 subunit 2"""	609768				11483580, 15102850	Standard	NM_173809		Approved	MGC10120, FLJ30135, BLOS2	uc001kqw.2	Q6QNY1	OTTHUMG00000018908	ENST00000370372.2:c.66C>G	10.37:g.102045960G>C						BLOC1S2_uc001kqv.1_5'UTR	p.A22A	NM_173809	NP_776170	Q6QNY1	BL1S2_HUMAN		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)	2	89	-		Colorectal(252;0.117)	22					B4DQV2|Q5W040|Q8WUI8	Silent	SNP	ENST00000370372.2	37	c.66C>G	CCDS7490.1																																																																																				0.572	BLOC1S2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049861.2	NM_173809		8	39	0	0	0	0	8	39				
PIDD1	55367	broad.mit.edu	37	11	803327	803327	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:803327G>A	ENST00000347755.5	-	3	697	c.556C>T	c.(556-558)Ctg>Ttg	p.L186L	PIDD_ENST00000534649.1_5'Flank|PIDD_ENST00000411829.2_Silent_p.L186L	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					GCTGGGGGCAGCGTCTGCAGG	0.642																																						uc001lro.1		NA																	0					0						c.(556-558)CTG>TTG		leucine rich repeat and death domain containing							55.0	68.0	64.0					11																	803327		2203	4299	6502	SO:0001819	synonymous_variant	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:803327G>A																												ENST00000347755.5:c.556C>T	11.37:g.803327G>A						LRDD_uc009yck.1_5'Flank|LRDD_uc001lrk.1_Silent_p.L186L|LRDD_uc001lrl.1_Silent_p.L40L|LRDD_uc001lrm.1_5'UTR|LRDD_uc001lrn.1_Silent_p.L40L|LRDD_uc001lrp.1_5'UTR	p.L186L	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	698	-		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	186			LRR 3.			Silent	SNP	ENST00000347755.5	37	c.556C>T	CCDS7716.1																																																																																				0.642	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257103.1			20	48	0	0	0	0	20	48				
TRIM5	85363	broad.mit.edu	37	11	5699528	5699528	+	Missense_Mutation	SNP	G	G	C	rs140632799		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:5699528G>C	ENST00000380034.3	-	4	906	c.650C>G	c.(649-651)tCt>tGt	p.S217C	TRIM5_ENST00000396853.4_Missense_Mutation_p.S217C|TRIM5_ENST00000396855.3_Missense_Mutation_p.S217C|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396847.3_Missense_Mutation_p.S217C|TRIM5_ENST00000305836.5_Missense_Mutation_p.S217C|TRIM5_ENST00000380027.1_Missense_Mutation_p.S217C	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	217					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CTCAGTTTCAGAGTTCGTAAG	0.512																																						uc001mbm.1		NA																	0				ovary(1)	1						c.(649-651)TCT>TGT		tripartite motif protein TRIM5 isoform alpha		G	CYS/SER,CYS/SER,CYS/SER	0,4402		0,0,2201	125.0	108.0	114.0		650,650,650	0.2	0.0	11	dbSNP_134	114	2,8592	2.2+/-6.3	0,2,4295	no	missense,missense,missense	TRIM5	NM_033034.2,NM_033092.2,NM_033093.2	112,112,112	0,2,6496	CC,CG,GG		0.0233,0.0,0.0154	benign,benign,benign	217/494,217/348,217/327	5699528	2,12994	2201	4297	6498	SO:0001583	missense	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5699528G>C	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.650C>G	11.37:g.5699528G>C	ENSP00000369373:p.Ser217Cys					TRIM5_uc001mbq.1_Missense_Mutation_p.S217C|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Missense_Mutation_p.S217C|TRIM5_uc001mbo.2_Missense_Mutation_p.S217C|TRIM5_uc001mbp.2_Missense_Mutation_p.S217C	p.S217C	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	4	907	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	217			Potential.		A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Missense_Mutation	SNP	ENST00000380034.3	37	c.650C>G	CCDS31393.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.53|14.53	2.562496|2.562496	0.45694|0.45694	0.0|0.0	2.33E-4|2.33E-4	ENSG00000132256|ENSG00000132256	ENST00000438025|ENST00000396855;ENST00000305836;ENST00000380034;ENST00000380027;ENST00000396847;ENST00000396853	.|T;T;T;T;T;T	.|0.09911	.|2.93;2.93;2.93;2.93;2.93;2.93	4.74|4.74	0.159|0.159	0.14968|0.14968	.|.	.|1.352840	.|0.04794	.|N	.|0.432145	T|T	0.35219|0.35219	0.0924|0.0924	M|M	0.88775|0.88775	2.98|2.98	0.09310|0.09310	N|N	1|1	.|D;D;D	.|0.71674	.|0.998;0.995;0.994	.|D;D;P	.|0.63703	.|0.917;0.917;0.896	T|T	0.11179|0.11179	-1.0598|-1.0598	5|10	.|0.87932	.|D	.|0	.|.	7.0525|7.0525	0.25081|0.25081	0.0:0.3111:0.3868:0.3021|0.0:0.3111:0.3868:0.3021	.|.	.|217;217;217	.|Q9C035-3;Q9C035-4;Q9C035	.|.;.;TRIM5_HUMAN	V|C	94|217	.|ENSP00000380064:S217C;ENSP00000307031:S217C;ENSP00000369373:S217C;ENSP00000369366:S217C;ENSP00000380058:S217C;ENSP00000380062:S217C	.|ENSP00000307031:S217C	L|S	-|-	1|2	2|0	TRIM5|TRIM5	5656104|5656104	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.020000|0.020000	0.10135|0.10135	-0.179000|-0.179000	0.09768|0.09768	0.223000|0.223000	0.20920|0.20920	0.655000|0.655000	0.94253|0.94253	CTG|TCT		0.512	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		19	79	0	0	0	0	19	79				
OLFML1	283298	broad.mit.edu	37	11	7530749	7530749	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:7530749G>C	ENST00000329293.3	+	3	933	c.539G>C	c.(538-540)gGa>gCa	p.G180A	CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000530135.1_Missense_Mutation_p.G180A|OLFML1_ENST00000528758.1_3'UTR	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	180	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.					extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TTATTAATTGGATCCAGAAAC	0.423																																						uc001mfi.2		NA																	0				ovary(2)	2						c.(538-540)GGA>GCA		olfactomedin-like 1 precursor							108.0	106.0	107.0					11																	7530749		2201	4296	6497	SO:0001583	missense	283298					extracellular region		g.chr11:7530749G>C	AY358591	CCDS7779.1	11p15	2008-02-05			ENSG00000183801	ENSG00000183801			24473	protein-coding gene	gene with protein product							Standard	NM_198474		Approved	UNQ564	uc001mfi.3	Q6UWY5	OTTHUMG00000165527	ENST00000329293.3:c.539G>C	11.37:g.7530749G>C	ENSP00000332511:p.Gly180Ala					OLFML1_uc010raz.1_Missense_Mutation_p.G44A|OLFML1_uc010rba.1_Missense_Mutation_p.G180A	p.G180A	NM_198474	NP_940876	Q6UWY5	OLFL1_HUMAN		Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	3	891	+			180			Olfactomedin-like.		B4DP03|Q569G4	Missense_Mutation	SNP	ENST00000329293.3	37	c.539G>C	CCDS7779.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028995	0.75504	.	.	ENSG00000183801	ENST00000530135;ENST00000329293	D;D	0.88896	-2.44;-2.44	5.78	4.86	0.63082	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.94036	0.8089	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.991;1.0	D	0.94141	0.7397	10	0.87932	D	0	.	11.8505	0.52410	0.0833:0.0:0.9167:0.0	.	44;180	B4DN61;Q6UWY5	.;OLFL1_HUMAN	A	180	ENSP00000433455:G180A;ENSP00000332511:G180A	ENSP00000332511:G180A	G	+	2	0	OLFML1	7487325	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.614000	0.82996	2.724000	0.93272	0.563000	0.77884	GGA		0.423	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384656.1	NM_198474		9	58	0	0	0	0	9	58				
SCUBE2	57758	broad.mit.edu	37	11	9096045	9096045	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:9096045C>T	ENST00000309263.3	-	4	572	c.500G>A	c.(499-501)tGc>tAc	p.C167Y	SCUBE2_ENST00000457346.2_Missense_Mutation_p.C167Y|SCUBE2_ENST00000450649.2_Missense_Mutation_p.C167Y|SCUBE2_ENST00000520467.1_Missense_Mutation_p.C167Y			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	167	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GCGGTGAATGCAGGTGTGCTG	0.572																																						uc001mhh.1		NA																	0				ovary(1)|skin(1)	2						c.(499-501)TGC>TAC		CEGP1 protein precursor							152.0	128.0	136.0					11																	9096045		2201	4296	6497	SO:0001583	missense	57758					extracellular region	calcium ion binding	g.chr11:9096045C>T	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.500G>A	11.37:g.9096045C>T	ENSP00000310658:p.Cys167Tyr					SCUBE2_uc001mhi.1_Missense_Mutation_p.C167Y|SCUBE2_uc001mhj.1_Missense_Mutation_p.C167Y	p.C167Y	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	4	580	-			167			EGF-like 3; calcium-binding (Potential).		Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37	c.500G>A		.	.	.	.	.	.	.	.	.	.	C	21.3	4.128706	0.77549	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	D;D;D;D	0.99914	-7.98;-7.98;-7.98;-7.98	5.08	5.08	0.68730	EGF-like region, conserved site (1);EGF-like calcium-binding (1);	0.000000	0.85682	D	0.000000	D	0.99949	0.9978	H	0.98133	4.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.95933	0.8940	10	0.87932	D	0	.	18.4863	0.90830	0.0:1.0:0.0:0.0	.	167;167;167	Q9NQ36-3;Q9NQ36-2;Q9NQ36	.;.;SCUB2_HUMAN	Y	167	ENSP00000390481:C167Y;ENSP00000310658:C167Y;ENSP00000415187:C167Y;ENSP00000429969:C167Y	ENSP00000310658:C167Y	C	-	2	0	SCUBE2	9052621	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.726000	0.84824	2.361000	0.80049	0.561000	0.74099	TGC		0.572	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		4	109	0	0	0	0	4	109				
MRGPRX4	117196	broad.mit.edu	37	11	18195018	18195018	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:18195018A>G	ENST00000314254.3	+	1	635	c.215A>G	c.(214-216)gAc>gGc	p.D72G	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GCCGCAGCAGACTTCCTCTTC	0.532																																						uc001mnv.1		NA																	0				skin(1)	1						c.(214-216)GAC>GGC		MAS-related GPR, member X4							113.0	94.0	100.0					11																	18195018		2199	4293	6492	SO:0001583	missense	117196					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18195018A>G	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"""GPCR / Class A : Orphans"""	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.215A>G	11.37:g.18195018A>G	ENSP00000314042:p.Asp72Gly						p.D72G	NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN			1	635	+			72			Helical; Name=2; (Potential).		Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	c.215A>G	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.463585	0.63513	.	.	ENSG00000179817	ENST00000314254	D	0.88664	-2.41	2.95	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.95468	0.8528	H	0.96111	3.77	0.35309	D	0.78376	D	0.89917	1.0	D	0.91635	0.999	D	0.96821	0.9604	10	0.87932	D	0	.	9.2893	0.37778	1.0:0.0:0.0:0.0	.	72	Q96LA9	MRGX4_HUMAN	G	72	ENSP00000314042:D72G	ENSP00000314042:D72G	D	+	2	0	MRGPRX4	18151594	1.000000	0.71417	0.172000	0.22920	0.078000	0.17371	6.428000	0.73383	1.364000	0.46038	0.418000	0.28097	GAC		0.532	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		15	76	0	0	0	0	15	76				
PPP1R32	220004	broad.mit.edu	37	11	61249785	61249785	+	Missense_Mutation	SNP	C	C	T	rs34626255		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:61249785C>T	ENST00000338608.2	+	3	237	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W	RP11-286N22.8_ENST00000543044.1_3'UTR|RP11-286N22.8_ENST00000544880.1_Intron|PPP1R32_ENST00000432063.2_Missense_Mutation_p.R38W	NM_145017.2	NP_659454.2	Q7Z5V6	PPR32_HUMAN	protein phosphatase 1, regulatory subunit 32	38							phosphatase binding (GO:0019902)										TCTGGCAGGTCGGGAGGATTT	0.612											OREG0021002	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001nru.1		NA																	0				ovary(1)	1						c.(112-114)CGG>TGG		IIIG9 protein							55.0	53.0	54.0					11																	61249785		2202	4299	6501	SO:0001583	missense	220004							g.chr11:61249785C>T	AK057333	CCDS8008.1, CCDS53641.1	11q12.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000162148	ENSG00000162148		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28869	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 66"""	C11orf66		12477932	Standard	NM_145017		Approved	IIIG9, FLJ32771	uc001nru.2	Q7Z5V6	OTTHUMG00000168176	ENST00000338608.2:c.112C>T	11.37:g.61249785C>T	ENSP00000344140:p.Arg38Trp		OREG0021002	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1052	C11orf66_uc009ynq.1_Missense_Mutation_p.R38W	p.R38W	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN			3	237	+			38					Q4G0P4|Q96M77	Missense_Mutation	SNP	ENST00000338608.2	37	c.112C>T	CCDS8008.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064026	0.55432	.	.	ENSG00000162148	ENST00000432063;ENST00000338608	T;T	0.50001	0.76;1.32	4.83	4.83	0.62350	.	0.277655	0.26711	N	0.022892	T	0.64638	0.2616	L	0.59912	1.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.65051	-0.6262	10	0.49607	T	0.09	-10.8389	15.1994	0.73122	0.0:1.0:0.0:0.0	.	38;38	Q7Z5V6-2;Q7Z5V6	.;PPR32_HUMAN	W	38	ENSP00000391560:R38W;ENSP00000344140:R38W	ENSP00000344140:R38W	R	+	1	2	C11orf66	61006361	1.000000	0.71417	0.165000	0.22776	0.375000	0.29983	3.992000	0.56980	2.389000	0.81357	0.655000	0.94253	CGG		0.612	PPP1R32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398621.1	NM_145017		9	66	0	0	0	0	9	66				
RSF1	51773	broad.mit.edu	37	11	77378520	77378520	+	Silent	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:77378520C>T	ENST00000308488.6	-	16	4070	c.3768G>A	c.(3766-3768)aaG>aaA	p.K1256K	RSF1_ENST00000360355.2_Silent_p.K1225K|RSF1_ENST00000480887.1_Silent_p.K1004K			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1256					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTTCAGAGTTCTTGGACAAAT	0.448																																						uc001oyn.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(3766-3768)AAG>AAA		remodeling and spacing factor 1							49.0	52.0	51.0					11																	77378520		2199	4287	6486	SO:0001819	synonymous_variant	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77378520C>T	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.3768G>A	11.37:g.77378520C>T						RSF1_uc001oym.2_Silent_p.K1004K	p.K1256K	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		16	3888	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		1256					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Silent	SNP	ENST00000308488.6	37	c.3768G>A	CCDS8253.1																																																																																				0.448	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		7	131	0	0	0	0	7	131				
USP35	57558	broad.mit.edu	37	11	77911847	77911847	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:77911847C>T	ENST00000529308.1	+	6	1451	c.1190C>T	c.(1189-1191)gCc>gTc	p.A397V	USP35_ENST00000530267.1_Intron|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Missense_Mutation_p.A128V|USP35_ENST00000441408.2_5'UTR	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	397					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GTCATGGAGGCCATCAAGGTG	0.622																																						uc009yva.1		NA																	0				lung(2)|ovary(1)	3						c.(1189-1191)GCC>GTC		ubiquitin specific protease 35							64.0	70.0	68.0					11																	77911847		2013	4173	6186	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77911847C>T	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1190C>T	11.37:g.77911847C>T	ENSP00000431876:p.Ala397Val					USP35_uc001oze.2_Missense_Mutation_p.A153V|USP35_uc001ozc.2_Intron|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_Missense_Mutation_p.P7S|USP35_uc001ozf.2_Missense_Mutation_p.A128V	p.A397V	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		6	1436	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		397						Missense_Mutation	SNP	ENST00000529308.1	37	c.1190C>T	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745191	0.69418	.	.	ENSG00000118369	ENST00000528910;ENST00000529308;ENST00000526425	T;T;T	0.67345	-0.26;-0.15;3.29	4.59	4.59	0.56863	.	0.000000	0.53938	D	0.000046	T	0.72606	0.3481	L	0.46157	1.445	0.80722	D	1	D	0.62365	0.991	P	0.58391	0.838	T	0.69015	-0.5257	10	0.24483	T	0.36	-13.1436	17.6007	0.88024	0.0:1.0:0.0:0.0	.	397	Q9P2H5	UBP35_HUMAN	V	153;397;128	ENSP00000436001:A153V;ENSP00000431876:A397V;ENSP00000434942:A128V	ENSP00000434942:A128V	A	+	2	0	USP35	77589495	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.521000	0.60532	2.373000	0.80994	0.561000	0.74099	GCC		0.622	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		9	62	0	0	0	0	9	62				
USP35	57558	broad.mit.edu	37	11	77921356	77921356	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:77921356C>T	ENST00000529308.1	+	10	2716	c.2455C>T	c.(2455-2457)Cgg>Tgg	p.R819W	USP35_ENST00000530267.1_Missense_Mutation_p.R387W|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.R550W|USP35_ENST00000441408.2_Missense_Mutation_p.R405W	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	819	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GCGCACCATGCGGCGCCGCAA	0.647																																						uc009yva.1		NA																	0				lung(2)|ovary(1)	3						c.(2455-2457)CGG>TGG		ubiquitin specific protease 35							88.0	96.0	93.0					11																	77921356		2153	4229	6382	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77921356C>T	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2455C>T	11.37:g.77921356C>T	ENSP00000431876:p.Arg819Trp					USP35_uc001oze.2_Missense_Mutation_p.R575W|USP35_uc001ozc.2_Missense_Mutation_p.R387W|USP35_uc010rsp.1_Missense_Mutation_p.R251W|USP35_uc001ozd.2_Missense_Mutation_p.R430W|USP35_uc001ozf.2_Missense_Mutation_p.R550W	p.R819W	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		10	2701	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		819						Missense_Mutation	SNP	ENST00000529308.1	37	c.2455C>T	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736605	0.69304	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	4.42	4.42	0.53409	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.145677	0.30649	N	0.009167	T	0.43344	0.1243	L	0.45051	1.395	0.31936	N	0.611582	D;D	0.89917	1.0;1.0	D;D	0.81914	0.994;0.995	T	0.46400	-0.9194	10	0.37606	T	0.19	-37.0198	10.4068	0.44266	0.343:0.657:0.0:0.0	.	819;405	Q9P2H5;E7EWV7	UBP35_HUMAN;.	W	387;819;405;550	ENSP00000435468:R387W;ENSP00000431876:R819W;ENSP00000400825:R405W;ENSP00000434942:R550W	ENSP00000400825:R405W	R	+	1	2	USP35	77599004	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.287000	0.51732	2.292000	0.77174	0.491000	0.48974	CGG		0.647	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		4	136	0	0	0	0	4	136				
FAT3	120114	broad.mit.edu	37	11	92600371	92600371	+	Silent	SNP	G	G	A	rs531801730		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:92600371G>A	ENST00000298047.6	+	21	12140	c.12123G>A	c.(12121-12123)tcG>tcA	p.S4041S	FAT3_ENST00000409404.2_Silent_p.S4041S|FAT3_ENST00000533797.1_Silent_p.S376S|FAT3_ENST00000525166.1_Silent_p.S3891S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4041	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCCTGCCATCGGGGGGTGAGT	0.667										TCGA Ovarian(4;0.039)																												uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(12121-12123)TCG>TCA		FAT tumor suppressor homolog 3							5.0	6.0	5.0					11																	92600371		1885	3925	5810	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92600371G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12123G>A	11.37:g.92600371G>A		TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Silent_p.S481S	p.S4041S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			21	12140	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4041			EGF-like 2.|Extracellular (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.12123G>A																																																																																					0.667	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		3	14	0	0	0	0	3	14				
HEPHL1	341208	broad.mit.edu	37	11	93803697	93803697	+	Silent	SNP	C	C	T	rs557012995	byFrequency	TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:93803697C>T	ENST00000315765.9	+	6	1229	c.1221C>T	c.(1219-1221)aaC>aaT	p.N407N		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	407	Plastocyanin-like 3.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTCCTCTAAACGCCTCTGGCA	0.433													c|||	2	0.000399361	0.0	0.0014	5008	,	,		20055	0.0		0.0	False		,,,				2504	0.001					uc001pep.2		NA																	0				ovary(3)	3						c.(1219-1221)AAC>AAT		hephaestin-like 1 precursor							60.0	54.0	56.0					11																	93803697		1856	4090	5946	SO:0001819	synonymous_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93803697C>T	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.1221C>T	11.37:g.93803697C>T						uc001pen.1_Intron	p.N407N	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			6	1378	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	407			Plastocyanin-like 3.|Extracellular (Potential).		Q3C1W7	Silent	SNP	ENST00000315765.9	37	c.1221C>T	CCDS44710.1																																																																																				0.433	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		5	31	0	0	0	0	5	31				
PPP2R1B	5519	broad.mit.edu	37	11	111630634	111630634	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:111630634C>G	ENST00000527614.1	-	5	646	c.581G>C	c.(580-582)cGa>cCa	p.R194P	PPP2R1B_ENST00000393055.2_Intron|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.R194P|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.R194P|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.R33P|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.R130P	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	194					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		AGCAGCACGTCGTACCATTGG	0.413																																						uc001plx.1		NA																	0					0						c.(580-582)CGA>CCA		beta isoform of regulatory subunit A, protein							102.0	89.0	93.0					11																	111630634		2201	4297	6498	SO:0001583	missense	5519						protein binding	g.chr11:111630634C>G	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.581G>C	11.37:g.111630634C>G	ENSP00000437193:p.Arg194Pro					PPP2R1B_uc001plw.1_Missense_Mutation_p.R194P|PPP2R1B_uc010rwi.1_Missense_Mutation_p.R130P|PPP2R1B_uc010rwj.1_Missense_Mutation_p.R33P|PPP2R1B_uc010rwk.1_Missense_Mutation_p.R194P|PPP2R1B_uc010rwl.1_Intron	p.R194P	NM_002716	NP_002707	P30154	2AAB_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)	5	665	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	194			HEAT 5.		A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Missense_Mutation	SNP	ENST00000527614.1	37	c.581G>C	CCDS8349.1	.	.	.	.	.	.	.	.	.	.	C	33	5.271724	0.95429	.	.	ENSG00000137713	ENST00000311129;ENST00000426998;ENST00000527614;ENST00000427203;ENST00000341980	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	6.06	6.06	0.98353	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82706	0.5095	H	0.96576	3.845	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.87615	0.2506	10	0.87932	D	0	-7.5995	18.1336	0.89610	0.0:1.0:0.0:0.0	.	194;33;130;194;194	F8W8G1;B7Z1G3;B4DWW5;P30154;P30154-2	.;.;.;2AAB_HUMAN;.	P	194;130;194;33;194	ENSP00000311344:R194P;ENSP00000410671:R130P;ENSP00000437193:R194P;ENSP00000415759:R33P;ENSP00000343317:R194P	ENSP00000311344:R194P	R	-	2	0	PPP2R1B	111135844	1.000000	0.71417	0.996000	0.52242	0.949000	0.60115	7.241000	0.78201	2.880000	0.98712	0.650000	0.86243	CGA		0.413	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	NM_002716		8	58	0	0	0	0	8	58				
RBM7	10179	broad.mit.edu	37	11	114271421	114271421	+	Missense_Mutation	SNP	C	C	G	rs376690569		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr11:114271421C>G	ENST00000540163.1	+	1	670	c.28C>G	c.(28-30)Cgc>Ggc	p.R10G	RBM7_ENST00000541475.1_Missense_Mutation_p.R10G|C11orf71_ENST00000325636.4_5'Flank|RBM7_ENST00000375490.5_Missense_Mutation_p.R10G|RBM7_ENST00000545678.1_5'UTR|RBM7_ENST00000544582.1_Missense_Mutation_p.R10G|RP11-212D19.4_ENST00000544347.1_Missense_Mutation_p.I6M			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	10	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				meiotic nuclear division (GO:0007126)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		GGAAGCGGATCGCACTCTCTT	0.627																																						uc001pov.2		NA																	0				ovary(2)	2						c.(28-30)CGC>GGC		RNA binding motif protein 7							52.0	56.0	55.0					11																	114271421		2201	4296	6497	SO:0001583	missense	10179				meiosis		nucleotide binding|protein binding|RNA binding	g.chr11:114271421C>G	AF156098	CCDS8370.1, CCDS66233.1, CCDS73395.1	11q23.1-q23.2	2013-02-12			ENSG00000076053	ENSG00000076053		"""RNA binding motif (RRM) containing"""	9904	protein-coding gene	gene with protein product		612413				12477932	Standard	NM_001286045		Approved		uc001pov.3	Q9Y580		ENST00000540163.1:c.28C>G	11.37:g.114271421C>G	ENSP00000439918:p.Arg10Gly					C11orf71_uc001pot.1_5'Flank|C11orf71_uc001pou.3_5'Flank|RBM7_uc001pow.2_Missense_Mutation_p.R10G|RBM7_uc001pox.2_Translation_Start_Site	p.R10G	NM_016090	NP_057174	Q9Y580	RBM7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)	1	38	+		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)	10			RRM.		B2R6K8|Q9NUT4	Missense_Mutation	SNP	ENST00000540163.1	37	c.28C>G	CCDS8370.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560596	0.65538	.	.	ENSG00000076053	ENST00000540163;ENST00000375490;ENST00000541475;ENST00000544582	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.8	3.94	0.45596	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.227351	0.46758	D	0.000268	D	0.85366	0.5680	M	0.90309	3.105	0.80722	D	1	D;D	0.62365	0.971;0.991	P;P	0.59115	0.794;0.852	D	0.86612	0.1873	10	0.66056	D	0.02	-3.2611	11.1642	0.48533	0.0:0.8512:0.0:0.1488	.	10;10	Q6IRX3;Q9Y580	.;RBM7_HUMAN	G	10	ENSP00000439918:R10G;ENSP00000364639:R10G;ENSP00000440949:R10G;ENSP00000440923:R10G	ENSP00000364639:R10G	R	+	1	0	RBM7	113776631	1.000000	0.71417	0.366000	0.25914	0.267000	0.26476	2.396000	0.44468	0.811000	0.34303	0.655000	0.94253	CGC		0.627	RBM7-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399010.1	NM_016090		29	119	0	0	0	0	29	119				
ERBB3	2065	broad.mit.edu	37	12	56494868	56494868	+	Silent	SNP	T	T	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr12:56494868T>C	ENST00000267101.3	+	27	3665	c.3225T>C	c.(3223-3225)agT>agC	p.S1075S	ERBB3_ENST00000450146.2_Silent_p.S432S|ERBB3_ENST00000549832.1_Silent_p.S195S|RP11-603J24.9_ENST00000548861.1_5'Flank|ERBB3_ENST00000553131.1_Silent_p.S316S|ERBB3_ENST00000415288.2_Silent_p.S1016S	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1075					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTGGGAGCAGTGAACGGTGCC	0.483																																						uc001sjh.2		NA																	0				lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8						c.(3223-3225)AGT>AGC		erbB-3 isoform 1 precursor							35.0	33.0	34.0					12																	56494868		2203	4300	6503	SO:0001819	synonymous_variant	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56494868T>C	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3225T>C	12.37:g.56494868T>C						ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Silent_p.S432S|ERBB3_uc010sqc.1_Silent_p.S1016S|ERBB3_uc009zok.2_Silent_p.S340S|ERBB3_uc001sjk.2_Silent_p.S316S|ERBB3_uc001sjl.2_Silent_p.S195S	p.S1075S	NM_001982	NP_001973	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		27	3418	+			1075			Cytoplasmic (Potential).		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Silent	SNP	ENST00000267101.3	37	c.3225T>C	CCDS31833.1																																																																																				0.483	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			6	34	0	0	0	0	6	34				
DACH1	1602	broad.mit.edu	37	13	72063173	72063173	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr13:72063173G>A	ENST00000359684.2	-	8	1839	c.1840C>T	c.(1840-1842)Cct>Tct	p.P614S	DACH1_ENST00000305425.4_Missense_Mutation_p.P562S|DACH1_ENST00000354591.4_Missense_Mutation_p.P360S|DACH1_ENST00000313174.7_Missense_Mutation_p.P414S			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	614					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGTCCATCAGGAAACAGAAAA	0.463																																						uc010thn.1		NA																	0				breast(1)	1						c.(1678-1680)CCT>TCT		dachshund homolog 1 isoform a							184.0	184.0	184.0					13																	72063173		1893	4121	6014	SO:0001583	missense	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72063173G>A	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1840C>T	13.37:g.72063173G>A	ENSP00000352712:p.Pro614Ser					DACH1_uc010tho.1_Missense_Mutation_p.P412S|DACH1_uc010thp.1_Missense_Mutation_p.P358S	p.P560S	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	8	2101	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	612					D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	37	c.1678C>T		.	.	.	.	.	.	.	.	.	.	G	21.0	4.089183	0.76756	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	T;T;T;T	0.32272	1.51;1.46;1.52;1.47	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.50973	0.1647	L	0.47716	1.5	0.41546	D	0.988547	D;D;P	0.89917	1.0;0.999;0.868	D;D;P	0.87578	0.998;0.997;0.491	T	0.49428	-0.8941	10	0.52906	T	0.07	-9.819	18.8885	0.92389	0.0:0.0:1.0:0.0	.	358;412;560	Q9UI36-4;Q9UI36-3;Q9UI36-2	.;.;.	S	562;414;360;614;614	ENSP00000304994:P562S;ENSP00000318506:P414S;ENSP00000346604:P360S;ENSP00000352712:P614S	ENSP00000304994:P562S	P	-	1	0	DACH1	70961174	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.278000	0.95766	2.544000	0.85801	0.563000	0.77884	CCT		0.463	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		23	280	0	0	0	0	23	280				
RPGRIP1	57096	broad.mit.edu	37	14	21795884	21795884	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr14:21795884C>A	ENST00000400017.2	+	17	2813	c.2813C>A	c.(2812-2814)cCa>cAa	p.P938Q	RPGRIP1_ENST00000382933.4_Missense_Mutation_p.P264Q|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.P938Q|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.P595Q|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.P900Q|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.P297Q	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	938					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TTCCTGAAACCAGAAGCTCAG	0.473																																						uc001wag.2		NA																	0				ovary(4)|breast(2)|pancreas(1)	7						c.(2812-2814)CCA>CAA		retinitis pigmentosa GTPase regulator							72.0	69.0	70.0					14																	21795884		1845	4096	5941	SO:0001583	missense	57096				response to stimulus|visual perception	cilium		g.chr14:21795884C>A	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.2813C>A	14.37:g.21795884C>A	ENSP00000382895:p.Pro938Gln					RPGRIP1_uc001wah.2_Missense_Mutation_p.P580Q|RPGRIP1_uc001wai.2_Missense_Mutation_p.P264Q|RPGRIP1_uc001wak.2_Missense_Mutation_p.P413Q|RPGRIP1_uc010aim.2_Missense_Mutation_p.P321Q|RPGRIP1_uc001wal.2_Missense_Mutation_p.P297Q|RPGRIP1_uc001wam.2_Missense_Mutation_p.P255Q	p.P938Q	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	17	2813	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	938					Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	c.2813C>A	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.805057	0.31961	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000555587;ENST00000307974	T;T;T;T;T;T;T	0.78364	-0.05;-0.86;-0.91;-0.91;-0.41;-1.17;-1.12	4.38	1.46	0.22682	.	0.935899	0.09142	N	0.842792	D	0.82949	0.5148	M	0.67953	2.075	0.09310	N	1	D;D;D;D;D;D	0.76494	0.967;0.967;0.967;0.999;0.967;0.973	P;P;P;D;P;P	0.67548	0.668;0.765;0.748;0.952;0.748;0.642	T	0.66976	-0.5787	10	0.66056	D	0.02	2.7936	3.2271	0.06735	0.1867:0.5149:0.0:0.2983	.	321;297;413;264;554;938	Q96KN7-2;Q96KN7-3;G3V3I7;Q96KN7-4;Q96KN7-5;Q96KN7	.;.;.;.;.;RPGR1_HUMAN	Q	595;900;938;938;264;413;297	ENSP00000450445:P595Q;ENSP00000451219:P900Q;ENSP00000382895:P938Q;ENSP00000206660:P938Q;ENSP00000372391:P264Q;ENSP00000451262:P413Q;ENSP00000309721:P297Q	ENSP00000206660:P938Q	P	+	2	0	RPGRIP1	20865724	0.001000	0.12720	0.008000	0.14137	0.007000	0.05969	0.529000	0.23019	0.198000	0.20407	-0.157000	0.13467	CCA		0.473	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		10	39	1	0	7.48e-07	8.46e-07	10	39				
SOS2	6655	broad.mit.edu	37	14	50585274	50585274	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr14:50585274G>C	ENST00000216373.5	-	23	4061	c.3787C>G	c.(3787-3789)Cct>Gct	p.P1263A	VCPKMT_ENST00000395859.2_5'Flank|SOS2_ENST00000543680.1_Missense_Mutation_p.P1230A|VCPKMT_ENST00000395860.2_5'Flank	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1263					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GGTGTGCTAGGAGGAGTGCTT	0.517																																						uc001wxs.3		NA																	0				ovary(2)	2						c.(3787-3789)CCT>GCT		son of sevenless homolog 2							151.0	127.0	135.0					14																	50585274		2203	4300	6503	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50585274G>C	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.3787C>G	14.37:g.50585274G>C	ENSP00000216373:p.Pro1263Ala					SOS2_uc010ans.2_Missense_Mutation_p.P98A|SOS2_uc010tql.1_Missense_Mutation_p.P1230A|C14orf138_uc001wxn.1_5'Flank|C14orf138_uc001wxo.1_5'Flank|C14orf138_uc001wxp.1_5'Flank|C14orf138_uc001wxq.1_5'Flank	p.P1263A	NM_006939	NP_008870	Q07890	SOS2_HUMAN			23	3885	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		1263					B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.3787C>G	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844345	0.51164	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.78364	-1.17;-1.05	5.33	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.81192	0.4771	M	0.63843	1.955	0.80722	D	1	D;D	0.55172	0.97;0.97	P;P	0.51833	0.681;0.681	T	0.82659	-0.0348	10	0.59425	D	0.04	.	13.8857	0.63706	0.0737:0.0:0.9263:0.0	.	1230;1263	B7ZKT6;Q07890	.;SOS2_HUMAN	A	1263;1230	ENSP00000216373:P1263A;ENSP00000445328:P1230A	ENSP00000216373:P1263A	P	-	1	0	SOS2	49655024	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.759000	0.74934	1.220000	0.43490	0.563000	0.77884	CCT		0.517	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			11	45	0	0	0	0	11	45				
SOS2	6655	broad.mit.edu	37	14	50626720	50626720	+	Silent	SNP	G	G	A	rs8010578		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr14:50626720G>A	ENST00000216373.5	-	10	1555	c.1281C>T	c.(1279-1281)atC>atT	p.I427I	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Silent_p.I394I	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	427					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CCCATCCATCGATATTTTTCT	0.358																																						uc001wxs.3		NA																	0				ovary(2)	2						c.(1279-1281)ATC>ATT		son of sevenless homolog 2							145.0	135.0	139.0					14																	50626720		2203	4300	6503	SO:0001819	synonymous_variant	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50626720G>A	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1281C>T	14.37:g.50626720G>A						SOS2_uc010tql.1_Silent_p.I394I|SOS2_uc010tqm.1_RNA|SOS2_uc001wxt.2_Silent_p.I115I	p.I427I	NM_006939	NP_008870	Q07890	SOS2_HUMAN			10	1379	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		427					B7ZKT6|D3DSB4|Q15503|Q17RN1	Silent	SNP	ENST00000216373.5	37	c.1281C>T	CCDS9697.1																																																																																				0.358	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			32	57	0	0	0	0	32	57				
GSKIP	51527	broad.mit.edu	37	14	96851943	96851943	+	Silent	SNP	C	C	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr14:96851943C>G	ENST00000556095.1	+	4	2154	c.342C>G	c.(340-342)ctC>ctG	p.L114L	GSKIP_ENST00000554182.1_Silent_p.L114L|GSKIP_ENST00000438650.1_Silent_p.L114L|RNU2-33P_ENST00000410344.1_RNA|GSKIP_ENST00000555181.1_Silent_p.L114L	NM_001271904.1	NP_001258833.1	Q9P0R6	GSKIP_HUMAN	GSK3B interacting protein	114						cytoplasm (GO:0005737)											TGGATACACTCAGCCCCGCCT	0.448																																						uc001yfj.3		NA																	0					0						c.(340-342)CTC>CTG		chromosome 14 open reading frame 129							161.0	149.0	153.0					14																	96851943		2203	4300	6503	SO:0001819	synonymous_variant	51527					cytoplasm	protein binding	g.chr14:96851943C>G	AF151044	CCDS32153.1	14q32.2	2012-09-25	2012-09-25	2012-09-25	ENSG00000100744	ENSG00000100744			20343	protein-coding gene	gene with protein product	"""GSK3beta interaction protein"""		"""chromosome 14 open reading frame 129"""	C14orf129		16981698, 21328310	Standard	NM_001271904		Approved		uc031qqf.1	Q9P0R6	OTTHUMG00000171420	ENST00000556095.1:c.342C>G	14.37:g.96851943C>G						C14orf129_uc001yfl.2_Silent_p.L114L	p.L114L	NM_016472	NP_057556	Q9P0R6	GSKIP_HUMAN		Epithelial(152;0.109)|COAD - Colon adenocarcinoma(157;0.205)	4	487	+		Melanoma(154;0.226)	114					B3KSZ0|Q9BST1|Q9NWK0	Silent	SNP	ENST00000556095.1	37	c.342C>G	CCDS32153.1																																																																																				0.448	GSKIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413338.1	NM_016472		29	56	0	0	0	0	29	56				
DUOXA2	405753	broad.mit.edu	37	15	45410265	45410265	+	3'UTR	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr15:45410265G>A	ENST00000323030.5	+	0	1406				DUOXA1_ENST00000430224.2_Missense_Mutation_p.R287C|DUOXA1_ENST00000267803.4_Missense_Mutation_p.R332C|DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000559014.1_Missense_Mutation_p.R332C	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2						hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CTCCTGGGGCGATCTGTAAAT	0.552											OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001zup.2		NA																	0				ovary(1)	1						c.(994-996)CGC>TGC		Numb-interacting protein							14.0	15.0	15.0					15																	45410265		2117	4160	6277	SO:0001624	3_prime_UTR_variant	90527				protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr15:45410265G>A	BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.*158G>A	15.37:g.45410265G>A			OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	931	DUOXA2_uc001zuo.2_3'UTR|DUOXA2_uc010beb.2_RNA|DUOXA1_uc010uem.1_Missense_Mutation_p.R287C|DUOXA1_uc010bec.2_Missense_Mutation_p.R332C	p.R332C	NM_144565	NP_653166	Q1HG43	DOXA1_HUMAN		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)	10	1394	-		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	Error:Variant_position_missing_in_Q1HG43_after_alignment					B2RPI9|H0YNQ6	Missense_Mutation	SNP	ENST00000323030.5	37	c.994C>T	CCDS10118.2	.	.	.	.	.	.	.	.	.	.	G	11.95	1.791042	0.31685	.	.	ENSG00000140254	ENST00000267803;ENST00000430224	T;T	0.60424	0.61;0.19	4.18	2.26	0.28386	.	1.320840	0.05329	N	0.527957	T	0.39145	0.1067	N	0.24115	0.695	0.21897	N	0.999484	P;P	0.40931	0.733;0.733	B;B	0.31547	0.132;0.132	T	0.37842	-0.9688	10	0.87932	D	0	2.0324	5.2164	0.15344	0.1044:0.0:0.6946:0.201	.	287;332	B5M0C0;A8K9Q6	.;.	C	332;287	ENSP00000267803:R332C;ENSP00000415512:R287C	ENSP00000267803:R332C	R	-	1	0	DUOXA1	43197557	0.001000	0.12720	0.012000	0.15200	0.001000	0.01503	0.235000	0.17948	0.702000	0.31825	-0.224000	0.12420	CGC		0.552	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	NM_207581		4	22	0	0	0	0	4	22				
CCP110	9738	broad.mit.edu	37	16	19553369	19553369	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr16:19553369C>G	ENST00000381396.5	+	6	2457	c.2210C>G	c.(2209-2211)tCa>tGa	p.S737*	CCP110_ENST00000396208.2_Nonsense_Mutation_p.S737*|CCP110_ENST00000396212.2_Nonsense_Mutation_p.S737*	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	737					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CTCCATACTTCAAATTCAAAT	0.338																																						uc002dgl.3		NA																	0					0						c.(2209-2211)TCA>TGA		RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;							90.0	96.0	94.0					16																	19553369		2197	4300	6497	SO:0001587	stop_gained	9738				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding	g.chr16:19553369C>G	AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.2210C>G	16.37:g.19553369C>G	ENSP00000370803:p.Ser737*					CP110_uc002dgk.3_Nonsense_Mutation_p.S737*	p.S737*			O43303	CP110_HUMAN			6	2457	+			737					B7WP23|O43335|Q68DV9|Q8NE13	Nonsense_Mutation	SNP	ENST00000381396.5	37	c.2210C>G	CCDS55992.1	.	.	.	.	.	.	.	.	.	.	C	40	7.994533	0.98599	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	.	.	.	5.69	3.65	0.41850	.	0.488214	0.19933	N	0.102810	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-4.8848	14.457	0.67423	0.0:0.7201:0.2799:0.0	.	.	.	.	X	737	.	ENSP00000370803:S737X	S	+	2	0	CCP110	19460870	0.780000	0.28664	0.004000	0.12327	0.994000	0.84299	3.161000	0.50747	0.677000	0.31305	0.650000	0.86243	TCA		0.338	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		23	59	0	0	0	0	23	59				
HEATR3	55027	broad.mit.edu	37	16	50138923	50138923	+	Missense_Mutation	SNP	G	G	A	rs137897639		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr16:50138923G>A	ENST00000299192.7	+	15	2185	c.1994G>A	c.(1993-1995)cGa>cAa	p.R665Q	RP11-429P3.5_ENST00000566770.1_RNA|HEATR3_ENST00000285767.4_Missense_Mutation_p.R579Q	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	665										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						ATGAATTTGCGAAGATTTATT	0.333																																						uc002efw.2		NA																	0				ovary(1)|skin(1)	2						c.(1993-1995)CGA>CAA		HEAT repeat containing 3		G	GLN/ARG	1,4395	2.1+/-5.4	0,1,2197	114.0	121.0	119.0		1994	5.9	1.0	16	dbSNP_134	119	0,8600		0,0,4300	no	missense	HEATR3	NM_182922.2	43	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	665/681	50138923	1,12995	2198	4300	6498	SO:0001583	missense	55027						binding	g.chr16:50138923G>A	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.1994G>A	16.37:g.50138923G>A	ENSP00000299192:p.Arg665Gln					HEATR3_uc002efx.2_Missense_Mutation_p.R579Q|uc002efy.2_5'Flank	p.R665Q	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN			15	2156	+			665					A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	37	c.1994G>A	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555302	0.86231	2.27E-4	0.0	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.44881	0.91;0.92	5.88	5.88	0.94601	.	0.088515	0.85682	D	0.000000	T	0.55226	0.1907	L	0.57536	1.79	0.47441	D	0.999422	D;D	0.76494	0.997;0.999	P;P	0.56434	0.798;0.778	T	0.40459	-0.9562	10	0.14252	T	0.57	.	20.286	0.98535	0.0:0.0:1.0:0.0	.	579;665	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	Q	579;665	ENSP00000285767:R579Q;ENSP00000299192:R665Q	ENSP00000285767:R579Q	R	+	2	0	HEATR3	48696424	1.000000	0.71417	0.952000	0.39060	0.804000	0.45430	5.306000	0.65756	2.786000	0.95864	0.650000	0.86243	CGA		0.333	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922		37	64	0	0	0	0	37	64				
DNAAF1	123872	broad.mit.edu	37	16	84188262	84188262	+	Missense_Mutation	SNP	G	G	A	rs376980896		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr16:84188262G>A	ENST00000378553.5	+	4	557	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	DNAAF1_ENST00000334315.5_Missense_Mutation_p.E145K	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	145					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						ACAGAAAATCGAAAACCTGGA	0.473																																						uc002fhl.3		NA																	0					0						c.(433-435)GAA>AAA		leucine rich repeat containing 50		G	LYS/GLU	0,4400		0,0,2200	100.0	95.0	96.0		433	3.0	1.0	16		96	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAAF1	NM_178452.4	56	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	benign	145/726	84188262	1,12999	2200	4300	6500	SO:0001583	missense	123872	Kartagener_syndrome			axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84188262G>A	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.433G>A	16.37:g.84188262G>A	ENSP00000367815:p.Glu145Lys					LRRC50_uc010chi.1_RNA	p.E145K	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN			4	614	+			145			LRR 2.		B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.433G>A	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640007	0.47153	0.0	1.16E-4	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.23147	1.92;1.92	4.99	2.97	0.34412	.	0.126064	0.53938	D	0.000057	T	0.27098	0.0664	L	0.60845	1.875	0.43080	D	0.994733	P	0.50710	0.938	P	0.44597	0.454	T	0.06552	-1.0820	10	0.54805	T	0.06	-22.4163	9.6855	0.40096	0.0775:0.143:0.7796:0.0	.	145	Q8NEP3	DAAF1_HUMAN	K	145	ENSP00000334593:E145K;ENSP00000367815:E145K	ENSP00000334593:E145K	E	+	1	0	DNAAF1	82745763	1.000000	0.71417	0.994000	0.49952	0.123000	0.20343	5.285000	0.65633	1.050000	0.40346	0.650000	0.86243	GAA		0.473	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		11	44	0	0	0	0	11	44				
ZBTB4	57659	broad.mit.edu	37	17	7370078	7370078	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:7370078C>T	ENST00000311403.4	-	3	382	c.43G>A	c.(43-45)Gcc>Acc	p.A15T	ZBTB4_ENST00000380599.4_Missense_Mutation_p.A15T	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	15					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CGCAGGACGGCGGGGGCATGG	0.657																																						uc002ghc.3		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(43-45)GCC>ACC		zinc finger and BTB domain containing 4							20.0	17.0	18.0					17																	7370078		2199	4299	6498	SO:0001583	missense	57659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:7370078C>T	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.43G>A	17.37:g.7370078C>T	ENSP00000307858:p.Ala15Thr					ZBTB4_uc002ghd.3_Missense_Mutation_p.A15T	p.A15T	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)	3	293	-		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	15					B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Missense_Mutation	SNP	ENST00000311403.4	37	c.43G>A	CCDS11107.1	.	.	.	.	.	.	.	.	.	.	C	4.358	0.065871	0.08388	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.70282	-0.47;-0.47	5.0	5.0	0.66597	BTB/POZ fold (2);	0.178800	0.37483	N	0.002077	T	0.46795	0.1411	N	0.05230	-0.09	0.34910	D	0.747394	D	0.58620	0.983	P	0.44422	0.449	T	0.54873	-0.8228	10	0.25106	T	0.35	-16.4127	6.3793	0.21525	0.1828:0.7267:0.0:0.0905	.	15	Q9P1Z0	ZBTB4_HUMAN	T	15	ENSP00000307858:A15T;ENSP00000369973:A15T	ENSP00000307858:A15T	A	-	1	0	ZBTB4	7310802	0.121000	0.22262	0.850000	0.33497	0.302000	0.27658	0.590000	0.23954	2.605000	0.88082	0.561000	0.74099	GCC		0.657	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	NM_020899		5	9	0	0	0	0	5	9				
TP53	7157	broad.mit.edu	37	17	7574021	7574021	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:7574021C>A	ENST00000269305.4	-	10	1195	c.1006G>T	c.(1006-1008)Gag>Tag	p.E336*	TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Nonsense_Mutation_p.E336*	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	336	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.				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.0?(8)|p.E336*(5)|p.I332fs*5(1)|p.E336fs*12(1)|p.?(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)	TCGAAGCGCTCACGCCCACGG	0.517		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		16	Whole gene deletion(8)|Substitution - Nonsense(5)|Unknown(1)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.0?(7)|p.E336*(5)|p.I332fs*5(1)|p.E336fs*12(1)|p.?(1)	bone(4)|upper_aerodigestive_tract(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|large_intestine(1)|stomach(1)|kidney(1)|pancreas(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	CM044725	TP53	M		c.(1006-1008)GAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							54.0	43.0	47.0					17																	7574021		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7574021C>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.1006G>T	17.37:g.7574021C>A	ENSP00000269305:p.Glu336*	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_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.E204*|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.E336*	p.E336*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1200	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	336			Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.1006G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.533603	0.64972	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	-2.52	0.06346	.	0.593826	0.18312	N	0.145079	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-4.6657	7.3173	0.26507	0.0:0.4168:0.1214:0.4617	.	.	.	.	X	336;336;325	.	ENSP00000269305:E336X	E	-	1	0	TP53	7514746	0.255000	0.24002	0.017000	0.16124	0.256000	0.26092	0.710000	0.25748	-0.200000	0.10300	-0.258000	0.10820	GAG		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	35	1	0	0.00198382	0.00213027	5	35				
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575|rs397516437		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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	G245S(SKLMS1_SOFT_TISSUE)|G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKMEL2_SKIN)	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		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)GGC>AGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149.0	112.0	125.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1.0	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	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.chr17:7577548C>T	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.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.2_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S	p.G245S	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	927	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|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.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	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	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		29	56	0	0	0	0	29	56				
AURKB	9212	broad.mit.edu	37	17	8110609	8110609	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:8110609G>A	ENST00000585124.1	-	5	376	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	AURKB_ENST00000535053.1_Missense_Mutation_p.R96W|AURKB_ENST00000578549.1_Intron|AURKB_ENST00000316199.6_Missense_Mutation_p.R96W|AURKB_ENST00000534871.1_Missense_Mutation_p.R54W	NM_004217.3	NP_004208.2	Q96GD4	AURKB_HUMAN	aurora kinase B	95	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				abscission (GO:0009838)|aging (GO:0007568)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|cleavage furrow formation (GO:0036089)|cytokinesis checkpoint (GO:0031565)|histone H3-S28 phosphorylation (GO:0043988)|histone modification (GO:0016570)|mitotic cell cycle (GO:0000278)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytokinesis (GO:0032467)|protein autophosphorylation (GO:0046777)|protein localization to kinetochore (GO:0034501)|protein phosphorylation (GO:0006468)|regulation of chromosome segregation (GO:0051983)|spindle checkpoint (GO:0031577)|spindle midzone assembly involved in mitosis (GO:0051256)|spindle stabilization (GO:0043146)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|central_nervous_system(1)|lung(2)	4						TTCTTCTCCCGAGCCAAGTAC	0.517																																					NSCLC(134;1161 2470 43664 51568)	uc002gkm.2		NA																	0				lung(2)|breast(1)|central_nervous_system(1)	4						c.(283-285)CGG>TGG		aurora kinase B							78.0	70.0	73.0					17																	8110609		2203	4300	6503	SO:0001583	missense	9212				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:8110609G>A	AF004022	CCDS11134.1, CCDS58514.1, CCDS67162.1	17p13.1	2013-01-17	2003-07-21	2003-07-23	ENSG00000178999	ENSG00000178999		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11390	protein-coding gene	gene with protein product	"""aurora-B"", ""aurora-1"", ""protein phosphatase 1, regulatory subunit 48"""	604970	"""serine/threonine kinase 12"""	STK12		9858806	Standard	NM_001256834		Approved	Aik2, IPL1, AurB, AIM-1, ARK2, STK5, PPP1R48	uc002gkm.4	Q96GD4	OTTHUMG00000108189	ENST00000585124.1:c.283C>T	17.37:g.8110609G>A	ENSP00000463999:p.Arg95Trp					AURKB_uc010cnu.2_5'UTR|AURKB_uc002gkn.2_Missense_Mutation_p.R96W|AURKB_uc010vuu.1_Missense_Mutation_p.R54W|AURKB_uc002gko.2_RNA	p.R95W	NM_004217	NP_004208	Q96GD4	AURKB_HUMAN			5	344	-			95			Protein kinase.		B4DNM4|C7G533|C7G534|C7G535|D3DTR4|J9JID1|O14630|O60446|O95083|Q96DV5|Q9UQ46	Missense_Mutation	SNP	ENST00000585124.1	37	c.283C>T	CCDS11134.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313835	0.40996	.	.	ENSG00000178999	ENST00000316199;ENST00000534871;ENST00000535053	T;T	0.09163	3.01;3.01	5.16	5.16	0.70880	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.33147	0.0853	M	0.82056	2.57	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.03157	-1.1066	10	0.87932	D	0	-1.7806	11.1091	0.48221	0.0:0.0:0.8159:0.1841	.	95;95	C7G533;Q96GD4	.;AURKB_HUMAN	W	95;54;96	ENSP00000443869:R54W;ENSP00000445866:R96W	ENSP00000313950:R95W	R	-	1	2	AURKB	8051334	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.911000	0.69939	2.693000	0.91896	0.655000	0.94253	CGG		0.517	AURKB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000226995.2	NM_004217		13	30	0	0	0	0	13	30				
MYH13	8735	broad.mit.edu	37	17	10248886	10248886	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:10248886C>T	ENST00000418404.3	-	13	1474	c.1311G>A	c.(1309-1311)atG>atA	p.M437I	MYH13_ENST00000252172.4_Missense_Mutation_p.M437I			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	437	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCCACAGGAACATCTTCTCGT	0.522																																						uc002gmk.1		NA																	0				ovary(4)|skin(2)	6						c.(1309-1311)ATG>ATA		myosin, heavy polypeptide 13, skeletal muscle							175.0	164.0	168.0					17																	10248886		2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10248886C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1311G>A	17.37:g.10248886C>T	ENSP00000404570:p.Met437Ile					MYH13_uc010vvf.1_Missense_Mutation_p.M112I	p.M437I	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			14	1401	-			437			Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.1311G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.009541	0.75046	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.87966	-2.32	4.33	4.33	0.51752	Myosin head, motor domain (2);	.	.	.	.	D	0.91754	0.7392	M	0.69523	2.12	0.50313	D	0.999864	B	0.14438	0.01	P	0.45474	0.482	D	0.91307	0.5071	9	0.87932	D	0	.	17.3699	0.87373	0.0:1.0:0.0:0.0	.	437	Q9UKX3	MYH13_HUMAN	I	437;112	ENSP00000252172:M437I	ENSP00000252172:M437I	M	-	3	0	MYH13	10189611	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.492000	0.81482	2.402000	0.81655	0.561000	0.74099	ATG		0.522	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		33	115	0	0	0	0	33	115				
MYH4	4622	broad.mit.edu	37	17	10364306	10364306	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:10364306G>A	ENST00000255381.2	-	12	1184	c.1074C>T	c.(1072-1074)gcC>gcT	p.A358A	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	358	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AATGCATCACGGCTCCAGTGA	0.483																																						uc002gmn.2		NA																	0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.(1072-1074)GCC>GCT		myosin, heavy polypeptide 4, skeletal muscle							192.0	163.0	173.0					17																	10364306		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10364306G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1074C>T	17.37:g.10364306G>A						uc002gml.1_Intron	p.A358A	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			12	1185	-			358			Myosin head-like.			Silent	SNP	ENST00000255381.2	37	c.1074C>T	CCDS11154.1																																																																																				0.483	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		40	123	0	0	0	0	40	123				
FBXW10	10517	broad.mit.edu	37	17	18659468	18659468	+	Splice_Site	SNP	G	G	A	rs542471358		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:18659468G>A	ENST00000395665.4	+	6	1453		c.e6+1		FBXW10_ENST00000301938.4_Splice_Site|FBXW10_ENST00000308799.4_Splice_Site|FBXW10_ENST00000395667.1_Splice_Site			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10											NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCTCTGACACGTAGGTACTGG	0.493													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19376	0.0		0.0	False		,,,				2504	0.0					uc002guk.2		NA																	0				ovary(1)	1						c.e6+1		F-box and WD-40 domain protein 10							77.0	72.0	74.0					17																	18659468		2203	4300	6503	SO:0001630	splice_region_variant	10517							g.chr17:18659468G>A	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.1232+1G>A	17.37:g.18659468G>A						FBXW10_uc002guj.2_Splice_Site_p.T411_splice|FBXW10_uc002gul.2_Splice_Site_p.T440_splice|FBXW10_uc010cqh.1_Splice_Site_p.T411_splice	p.T411_splice	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN			6	1464	+								C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Splice_Site	SNP	ENST00000395665.4	37	c.1232_splice	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	G	11.11	1.542954	0.27563	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	.	.	.	2.89	2.89	0.33648	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.088	0.36592	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FBXW10	18600193	.	.	1.000000	0.80357	0.477000	0.33069	.	.	1.439000	0.47511	0.184000	0.17185	.		0.493	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456	Intron	9	29	0	0	0	0	9	29				
STAT3	6774	broad.mit.edu	37	17	40485969	40485969	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:40485969A>G	ENST00000264657.5	-	9	1208	c.896T>C	c.(895-897)gTa>gCa	p.V299A	STAT3_ENST00000404395.3_Missense_Mutation_p.V299A|STAT3_ENST00000389272.3_Missense_Mutation_p.V201A|STAT3_ENST00000585517.1_Missense_Mutation_p.V299A|STAT3_ENST00000588969.1_Missense_Mutation_p.V299A	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	299					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CCGGTGCTGTACAATGGGGTC	0.428									Hyperimmunoglobulin E Recurrent Infection Syndrome																													uc002hzl.1		NA																	0				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4						c.(895-897)GTA>GCA		signal transducer and activator of transcription							68.0	68.0	68.0					17																	40485969		2203	4300	6503	SO:0001583	missense	6774	Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40485969A>G	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.896T>C	17.37:g.40485969A>G	ENSP00000264657:p.Val299Ala					STAT3_uc002hzk.1_Missense_Mutation_p.V299A|STAT3_uc002hzm.1_Missense_Mutation_p.V299A|STAT3_uc010wgh.1_Missense_Mutation_p.V201A|STAT3_uc002hzn.1_Missense_Mutation_p.V299A	p.V299A	NM_139276	NP_644805	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	9	1136	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	299					A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	c.896T>C	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	A	12.47	1.947608	0.34377	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	T;T;T	0.58358	0.34;0.34;0.34	5.61	5.61	0.85477	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.058485	0.64402	D	0.000002	T	0.33527	0.0866	N	0.08118	0	0.43787	D	0.996324	B;B;B	0.30763	0.25;0.294;0.294	B;B;B	0.32624	0.092;0.149;0.149	T	0.21861	-1.0233	10	0.12766	T	0.61	-16.5665	15.8096	0.78547	1.0:0.0:0.0:0.0	.	299;299;299	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	A	299;201;299	ENSP00000264657:V299A;ENSP00000373923:V201A;ENSP00000384943:V299A	ENSP00000264657:V299A	V	-	2	0	STAT3	37739495	0.983000	0.35010	0.435000	0.26784	0.982000	0.71751	5.324000	0.65863	2.132000	0.65825	0.533000	0.62120	GTA		0.428	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		18	53	0	0	0	0	18	53				
ITGA2B	3674	broad.mit.edu	37	17	42452040	42452040	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:42452040C>A	ENST00000262407.5	-	28	2961	c.2930G>T	c.(2929-2931)cGa>cTa	p.R977L	ITGA2B_ENST00000353281.4_Intron	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	977					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	AGCTTCCCCTCGGGGCAGGCT	0.632																																						uc002igt.1		NA																	0				ovary(2)|lung(1)	3	GRCh37	CD021198|CD061427	ITGA2B	D		c.(2929-2931)CGA>CTA		integrin alpha 2b preproprotein	Tirofiban(DB00775)						48.0	53.0	52.0					17																	42452040		2203	4300	6503	SO:0001583	missense	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42452040C>A		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.2930G>T	17.37:g.42452040C>A	ENSP00000262407:p.Arg977Leu					ITGA2B_uc002igu.1_3'UTR	p.R977L	NM_000419	NP_000410	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	28	2962	-		Prostate(33;0.0181)	977			Extracellular (Potential).		B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	c.2930G>T	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	C	6.921	0.539522	0.13250	.	.	ENSG00000005961	ENST00000262407	T	0.54479	0.57	4.58	2.4	0.29515	.	0.615585	0.13422	N	0.389083	T	0.29321	0.0730	N	0.14661	0.345	0.20764	N	0.99986	B	0.25719	0.132	B	0.21708	0.036	T	0.10753	-1.0616	10	0.34782	T	0.22	.	3.6642	0.08250	0.0:0.5651:0.2365:0.1984	.	977	P08514	ITA2B_HUMAN	L	977	ENSP00000262407:R977L	ENSP00000262407:R977L	R	-	2	0	ITGA2B	39807566	0.029000	0.19370	0.346000	0.25655	0.032000	0.12392	0.262000	0.18460	1.132000	0.42129	0.561000	0.74099	CGA		0.632	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			12	43	1	0	2.62e-11	3e-11	12	43				
CACNA1G	8913	broad.mit.edu	37	17	48685319	48685319	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:48685319G>A	ENST00000359106.5	+	25	4644	c.4644G>A	c.(4642-4644)gaG>gaA	p.E1548E	CACNA1G_ENST00000507896.1_Silent_p.E1548E|CACNA1G_ENST00000507609.1_Silent_p.E1548E|CACNA1G_ENST00000515765.1_Silent_p.E1548E|CACNA1G_ENST00000514079.1_Silent_p.E1548E|CACNA1G_ENST00000429973.2_Silent_p.E1548E|CACNA1G_ENST00000510115.1_Silent_p.E1525E|CACNA1G_ENST00000505165.1_Silent_p.E1548E|CACNA1G_ENST00000507336.1_Silent_p.E1548E|CACNA1G_ENST00000513689.2_Silent_p.E1514E|CACNA1G_ENST00000358244.5_Silent_p.E1525E|CACNA1G_ENST00000442258.2_Silent_p.E1525E|CACNA1G_ENST00000507510.2_Silent_p.E1548E|CACNA1G_ENST00000510366.1_Silent_p.E1514E|CACNA1G_ENST00000515165.1_Silent_p.E1548E|CACNA1G_ENST00000503485.1_Silent_p.E1514E|CACNA1G_ENST00000360761.4_Silent_p.E1525E|CACNA1G_ENST00000354983.4_Silent_p.E1525E|CACNA1G_ENST00000514181.1_Silent_p.E1548E|CACNA1G_ENST00000512389.1_Silent_p.E1548E|CACNA1G_ENST00000514717.1_Silent_p.E1491E|CACNA1G_ENST00000515411.1_Silent_p.E1548E|CACNA1G_ENST00000352832.5_Silent_p.E1525E|CACNA1G_ENST00000502264.1_Silent_p.E1525E|CACNA1G_ENST00000513964.1_Silent_p.E1514E	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1548					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGCACCAGGAGGAAGAGGAGG	0.547																																						uc002irk.1		NA																	0				breast(1)	1						c.(4642-4644)GAG>GAA		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						85.0	87.0	87.0					17																	48685319		2000	4164	6164	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48685319G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4644G>A	17.37:g.48685319G>A						CACNA1G_uc002irj.1_Silent_p.E1525E|CACNA1G_uc002irl.1_Silent_p.E1525E|CACNA1G_uc002irm.1_Silent_p.E1525E|CACNA1G_uc002irn.1_Silent_p.E1525E|CACNA1G_uc002iro.1_Silent_p.E1525E|CACNA1G_uc002irp.1_Silent_p.E1548E|CACNA1G_uc002irq.1_Silent_p.E1525E|CACNA1G_uc002irr.1_Silent_p.E1548E|CACNA1G_uc002irs.1_Silent_p.E1548E|CACNA1G_uc002irt.1_Silent_p.E1548E|CACNA1G_uc002irv.1_Silent_p.E1548E|CACNA1G_uc002irw.1_Silent_p.E1525E|CACNA1G_uc002iru.1_Silent_p.E1525E|CACNA1G_uc002irx.1_Silent_p.E1461E|CACNA1G_uc002iry.1_Silent_p.E1461E|CACNA1G_uc002irz.1_Silent_p.E1461E|CACNA1G_uc002isa.1_Silent_p.E1427E|CACNA1G_uc002isb.1_Silent_p.E1461E|CACNA1G_uc002isc.1_Silent_p.E1461E|CACNA1G_uc002isd.1_Silent_p.E1461E|CACNA1G_uc002ise.1_Silent_p.E1427E|CACNA1G_uc002isf.1_Silent_p.E1461E|CACNA1G_uc002isg.1_Silent_p.E1427E|CACNA1G_uc002ish.1_Silent_p.E1427E|CACNA1G_uc002isi.1_Silent_p.E1404E	p.E1548E	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		25	5016	+	Breast(11;6.7e-17)		1548			Cytoplasmic (Potential).		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.4644G>A	CCDS45730.1																																																																																				0.547	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		8	32	0	0	0	0	8	32				
KIF2B	84643	broad.mit.edu	37	17	51902045	51902045	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:51902045C>A	ENST00000268919.4	+	1	1807	c.1651C>A	c.(1651-1653)Cat>Aat	p.H551N		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	551					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAGGCCCTACCATCGTGGCCA	0.398																																						uc002iua.2		NA																	0				ovary(5)|skin(3)	8						c.(1651-1653)CAT>AAT		kinesin family member 2B							74.0	75.0	75.0					17																	51902045		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51902045C>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1651C>A	17.37:g.51902045C>A	ENSP00000268919:p.His551Asn					uc010wna.1_RNA	p.H551N	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	1807	+			551					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.1651C>A	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	0.032	-1.326399	0.01309	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.73047	-0.71	5.51	4.49	0.54785	.	0.353696	0.16644	N	0.205513	T	0.51363	0.1670	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.21895	-1.0232	10	0.17832	T	0.49	.	11.7775	0.51993	0.1337:0.7359:0.1304:0.0	.	551	Q8N4N8	KIF2B_HUMAN	N	551;439	ENSP00000268919:H551N	ENSP00000268919:H551N	H	+	1	0	KIF2B	49257044	0.019000	0.18553	0.117000	0.21633	0.058000	0.15608	1.357000	0.34090	2.738000	0.93877	0.655000	0.94253	CAT		0.398	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		17	38	1	0	5.39e-06	5.99e-06	17	38				
SMG8	55181	broad.mit.edu	37	17	57288727	57288727	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:57288727C>T	ENST00000543872.2	+	2	1579	c.1315C>T	c.(1315-1317)Cat>Tat	p.H439Y	CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.H439Y|SMG8_ENST00000578922.1_Missense_Mutation_p.H439Y			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	439					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)		p.H439Y(1)		NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						ACAGCCTTCCCATTTTGAACT	0.478																																						uc002ixi.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1315-1317)CAT>TAT		SMG8 protein							66.0	64.0	64.0					17																	57288727		2203	4300	6503	SO:0001583	missense	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57288727C>T	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1315C>T	17.37:g.57288727C>T	ENSP00000438748:p.His439Tyr						p.H439Y	NM_018149	NP_060619	Q8ND04	SMG8_HUMAN			1	1357	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		439					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	c.1315C>T	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692346	0.68271	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.51574	0.7;0.7	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.68007	0.2954	M	0.66939	2.045	0.80722	D	1	D	0.62365	0.991	D	0.74023	0.982	T	0.63065	-0.6720	10	0.36615	T	0.2	-18.7012	19.2777	0.94039	0.0:1.0:0.0:0.0	.	439	Q8ND04	SMG8_HUMAN	Y	439	ENSP00000300917:H439Y;ENSP00000438748:H439Y	ENSP00000300917:H439Y	H	+	1	0	SMG8	54643509	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.814000	0.86154	2.794000	0.96219	0.655000	0.94253	CAT		0.478	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		16	38	0	0	0	0	16	38				
ITGB4	3691	broad.mit.edu	37	17	73748588	73748588	+	Silent	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:73748588C>T	ENST00000200181.3	+	32	4225	c.4038C>T	c.(4036-4038)ttC>ttT	p.F1346F	ITGB4_ENST00000339591.3_Silent_p.F1346F|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000579662.1_Silent_p.F1346F|ITGB4_ENST00000449880.2_Silent_p.F1346F|ITGB4_ENST00000450894.3_Silent_p.F1346F	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1346					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACGACAGCTTCCTTATGTACA	0.627																																						uc002jpg.2		NA																	0				lung(4)	4						c.(4036-4038)TTC>TTT		integrin beta 4 isoform 1 precursor							116.0	111.0	112.0					17																	73748588		2203	4300	6503	SO:0001819	synonymous_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73748588C>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.4038C>T	17.37:g.73748588C>T						ITGB4_uc002jph.2_Silent_p.F1346F|ITGB4_uc002jpi.3_Silent_p.F1346F|ITGB4_uc002jpj.2_Silent_p.F1346F|GALK1_uc010wsi.1_Intron	p.F1346F	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		32	4225	+	all_cancers(13;1.5e-07)		1346			Cytoplasmic (Potential).		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	c.4038C>T	CCDS11727.1																																																																																				0.627	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			15	79	0	0	0	0	15	79				
WDR7	23335	broad.mit.edu	37	18	54424102	54424102	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr18:54424102G>C	ENST00000254442.3	+	15	2489	c.2278G>C	c.(2278-2280)Gat>Cat	p.D760H	WDR7_ENST00000357574.3_Missense_Mutation_p.D760H|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	760					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		ACACCTCCTTGATGATGAAGA	0.423																																						uc002lgk.1		NA																	0				ovary(2)|skin(1)	3						c.(2278-2280)GAT>CAT		rabconnectin-3 beta isoform 1							61.0	59.0	59.0					18																	54424102		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54424102G>C	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.2278G>C	18.37:g.54424102G>C	ENSP00000254442:p.Asp760His					WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.D760H	p.D760H	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	15	2489	+			760					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.2278G>C	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099949	0.56183	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.66815	-0.23;-0.22	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.67683	0.2919	N	0.08118	0	0.80722	D	1	D;D	0.67145	0.996;0.995	D;P	0.67382	0.951;0.831	T	0.71434	-0.4594	10	0.41790	T	0.15	.	19.9958	0.97383	0.0:0.0:1.0:0.0	.	760;760	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	H	760;760;85;760	ENSP00000254442:D760H;ENSP00000350187:D760H	ENSP00000254442:D760H	D	+	1	0	WDR7	52575100	1.000000	0.71417	0.591000	0.28745	0.509000	0.34042	9.669000	0.98622	2.826000	0.97356	0.655000	0.94253	GAT		0.423	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			7	25	0	0	0	0	7	25				
CDH19	28513	broad.mit.edu	37	18	64176256	64176256	+	Missense_Mutation	SNP	G	G	A	rs150398178	byFrequency	TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr18:64176256G>A	ENST00000262150.2	-	11	2096	c.1804C>T	c.(1804-1806)Ctc>Ttc	p.L602F	CDH19_ENST00000540086.1_Intron	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ATGCAAATGAGAATAGCAATG	0.418																																						uc002lkc.1		NA																	0				ovary(1)|skin(1)	2						c.(1804-1806)CTC>TTC		cadherin 19, type 2 preproprotein							129.0	114.0	119.0					18																	64176256		2203	4299	6502	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64176256G>A	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.1804C>T	18.37:g.64176256G>A	ENSP00000262150:p.Leu602Phe					CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Intron	p.L602F	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			11	1942	-		Esophageal squamous(42;0.0132)	602			Helical; (Potential).		O15098	Missense_Mutation	SNP	ENST00000262150.2	37	c.1804C>T	CCDS11994.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336684	0.24253	.	.	ENSG00000071991	ENST00000262150	T	0.61392	0.11	4.48	-0.257	0.12979	.	0.850343	0.10229	N	0.699907	T	0.50360	0.1611	M	0.70108	2.13	0.37691	D	0.923865	P	0.48503	0.911	B	0.42555	0.391	T	0.56998	-0.7886	10	0.51188	T	0.08	.	1.3475	0.02166	0.2398:0.2884:0.3263:0.1455	.	602	Q9H159	CAD19_HUMAN	F	602	ENSP00000262150:L602F	ENSP00000262150:L602F	L	-	1	0	CDH19	62327236	0.399000	0.25287	0.002000	0.10522	0.104000	0.19210	0.629000	0.24538	0.085000	0.17107	0.585000	0.79938	CTC		0.418	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153		17	58	0	0	0	0	17	58				
MUC16	94025	broad.mit.edu	37	19	9060890	9060890	+	Silent	SNP	A	A	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:9060890A>G	ENST00000397910.4	-	3	26759	c.26556T>C	c.(26554-26556)ccT>ccC	p.P8852P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8854	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGAAGATGGAGGGCTAGTTT	0.522																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(26554-26556)CCT>CCC		mucin 16							147.0	141.0	143.0					19																	9060890		2019	4184	6203	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9060890A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.26556T>C	19.37:g.9060890A>G							p.P8852P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	26760	-			8854			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.26556T>C	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		26	113	0	0	0	0	26	113				
NDUFA13	51079	broad.mit.edu	37	19	19625929	19625929	+	5'Flank	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:19625929C>T	ENST00000507754.4	+	0	0				NDUFA13_ENST00000252576.5_5'Flank|NDUFA13_ENST00000428459.2_5'Flank|NDUFA13_ENST00000503283.1_5'Flank|CTC-260F20.3_ENST00000555938.1_5'Flank|NDUFA13_ENST00000512771.3_5'Flank|TSSK6_ENST00000360913.3_Missense_Mutation_p.R103H|YJEFN3_ENST00000608404.1_5'Flank|TSSK6_ENST00000585580.3_Missense_Mutation_p.R103H			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						GCGCCCGTTGCGCTGCACGGC	0.652																																						uc002nmr.2		NA																	0				stomach(1)	1						c.(307-309)CGC>CAC		testis-specific serine kinase 6							40.0	41.0	41.0					19																	19625929		2203	4300	6503	SO:0001631	upstream_gene_variant	83983				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:19625929C>T	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211		19.37:g.19625929C>T	Exception_encountered					TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank	p.R103H	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN			1	541	-			103			Protein kinase.		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	ENST00000507754.4	37	c.308G>A	CCDS12404.2	.	.	.	.	.	.	.	.	.	.	C	4.141	0.024562	0.08054	.	.	ENSG00000178093	ENST00000360913	T	0.67345	-0.26	4.85	4.85	0.62838	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	0.41500	U	0.000870	T	0.60418	0.2267	L	0.56199	1.76	0.36275	D	0.855427	B	0.33103	0.397	B	0.28139	0.086	T	0.71224	-0.4656	10	0.66056	D	0.02	.	13.4981	0.61438	0.0:1.0:0.0:0.0	.	103	Q9BXA6	TSSK6_HUMAN	H	103	ENSP00000354168:R103H	ENSP00000354168:R103H	R	-	2	0	TSSK6	19486929	0.955000	0.32602	0.998000	0.56505	0.123000	0.20343	1.859000	0.39418	2.252000	0.74401	0.306000	0.20318	CGC		0.652	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		17	53	0	0	0	0	17	53				
WDR88	126248	broad.mit.edu	37	19	33647373	33647373	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:33647373C>T	ENST00000355868.3	+	7	998	c.922C>T	c.(922-924)Cga>Tga	p.R308*	WDR88_ENST00000361680.2_Nonsense_Mutation_p.R308*	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	308										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					AGGGGAGTTTCGAAACTGTGG	0.463																																						uc002nui.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(922-924)CGA>TGA		PQQ repeat and WD repeat domain containing							108.0	103.0	105.0					19																	33647373		2203	4300	6503	SO:0001587	stop_gained	126248							g.chr19:33647373C>T	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"""WD repeat domain containing"""	26999	protein-coding gene	gene with protein product			"""PQQ repeat and WD repeat domain containing"""	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.922C>T	19.37:g.33647373C>T	ENSP00000348129:p.Arg308*						p.R308*	NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN			7	1000	+	Esophageal squamous(110;0.137)		308			WD 5.		Q8NEF8	Nonsense_Mutation	SNP	ENST00000355868.3	37	c.922C>T	CCDS12429.1	.	.	.	.	.	.	.	.	.	.	C	37	6.086750	0.97271	.	.	ENSG00000166359	ENST00000355868;ENST00000361680	.	.	.	5.59	5.59	0.84812	.	1.936560	0.02803	N	0.123477	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2199	0.89898	0.0:1.0:0.0:0.0	.	.	.	.	X	308	.	ENSP00000348129:R308X	R	+	1	2	WDR88	38339213	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	3.964000	0.56780	2.639000	0.89480	0.555000	0.69702	CGA		0.463	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479		24	68	0	0	0	0	24	68				
HNRNPL	3191	broad.mit.edu	37	19	39327374	39327374	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:39327374C>A	ENST00000221419.5	-	13	2124	c.1758G>T	c.(1756-1758)caG>caT	p.Q586H	HNRNPL_ENST00000600873.1_Missense_Mutation_p.Q453H|AC104534.3_ENST00000594769.1_Intron	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	586					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			AGGAGGCGTGCTGAGCAGTGG	0.453																																						uc010xul.1		NA																	0					0						c.(1756-1758)CAG>CAT		heterogeneous nuclear ribonucleoprotein L							196.0	179.0	185.0					19																	39327374		2203	4300	6503	SO:0001583	missense	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39327374C>A	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1758G>T	19.37:g.39327374C>A	ENSP00000221419:p.Gln586His					HNRNPL_uc010ege.1_Intron|HNRNPL_uc002ojj.1_Intron|HNRNPL_uc002ojo.1_3'UTR|HNRNPL_uc002ojk.2_Missense_Mutation_p.Q242H|HNRNPL_uc002ojl.2_Missense_Mutation_p.Q242H|HNRNPL_uc010xum.1_Missense_Mutation_p.Q453H	p.Q586H	NM_001533	NP_001524	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		13	1769	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		586					A6ND69|A6NIT8|Q9H3P3	Missense_Mutation	SNP	ENST00000221419.5	37	c.1758G>T	CCDS33015.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187225	0.38609	.	.	ENSG00000104824	ENST00000221419;ENST00000388749;ENST00000388750	.	.	.	5.65	4.59	0.56863	.	0.049981	0.85682	D	0.000000	T	0.57184	0.2036	L	0.54323	1.7	0.58432	D	0.999997	B	0.06786	0.001	B	0.01281	0.0	T	0.54957	-0.8215	9	0.46703	T	0.11	.	14.0155	0.64521	0.0:0.9252:0.0:0.0748	.	586	P14866	HNRPL_HUMAN	H	586;453;453	.	ENSP00000221419:Q586H	Q	-	3	2	HNRNPL	44019214	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.155000	0.42301	2.941000	0.99782	0.655000	0.94253	CAG		0.453	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			4	162	1	0	0.00909568	0.00963781	4	162				
AP2A1	160	broad.mit.edu	37	19	50309485	50309485	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:50309485G>A	ENST00000359032.5	+	23	2831	c.2831G>A	c.(2830-2832)cGg>cAg	p.R944Q	AP2A1_ENST00000354293.5_Missense_Mutation_p.R922Q|AC006942.4_ENST00000600669.1_RNA	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	944				ENFVGAGIIQTKALQVGCLLRLEPNAQAQMYRLTLRTSKEP VSRHLCELLAQQF -> GDREDTRVWGMPGTFLRPFVFLFL FICCCLHSGGLGGVPLPPFPPQAQRGEGPGKWMSPPLPPHP VVAPPTPSPSRGCVLL (in Ref. 4; AAH14214). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TGTCTGCTTCGGCTGGAGCCC	0.637																																						uc002ppn.2		NA																	0				ovary(2)	2						c.(2830-2832)CGG>CAG		adaptor-related protein complex 2, alpha 1							16.0	19.0	18.0					19																	50309485		1985	4155	6140	SO:0001583	missense	160				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	g.chr19:50309485G>A	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.2831G>A	19.37:g.50309485G>A	ENSP00000351926:p.Arg944Gln					AP2A1_uc002ppo.2_Missense_Mutation_p.R922Q|AP2A1_uc010enk.2_Missense_Mutation_p.R75Q	p.R944Q	NM_014203	NP_055018	O95782	AP2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	23	3042	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	944	ENFVGAGIIQTKALQVGCLLRLEPNAQAQMYRLTLRTSKEP VSRHLCELLAQQF -> GDREDTRVWGMPGTFLRPFVFLFL FICCCLHSGGLGGVPLPPFPPQAQRGEGPGKWMSPPLPPHP VVAPPTPSPSRGCVLL (in Ref. 4; AAH14214).				Q96CI7|Q96PP6|Q96PP7|Q9H070	Missense_Mutation	SNP	ENST00000359032.5	37	c.2831G>A	CCDS46148.1	.	.	.	.	.	.	.	.	.	.	G	35	5.488368	0.96323	.	.	ENSG00000196961	ENST00000354293;ENST00000359032	T;T	0.33216	1.52;1.42	5.3	4.25	0.50352	Coatomer/calthrin adaptor appendage, C-terminal subdomain (1);Clathrin alpha-adaptin/coatomer adaptor, appendage, C-terminal subdomain (1);Clathrin adaptor, alpha-adaptin, appendage, C-terminal subdomain (1);	0.054965	0.64402	D	0.000001	T	0.64068	0.2565	M	0.92784	3.345	0.52099	D	0.999942	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.986	T	0.74241	-0.3729	10	0.87932	D	0	.	14.0626	0.64808	0.0:0.0:0.8475:0.1525	.	922;944	O95782-2;O95782	.;AP2A1_HUMAN	Q	922;944	ENSP00000346246:R922Q;ENSP00000351926:R944Q	ENSP00000346246:R922Q	R	+	2	0	AP2A1	55001297	1.000000	0.71417	0.994000	0.49952	0.913000	0.54294	9.405000	0.97313	1.198000	0.43158	0.561000	0.74099	CGG		0.637	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			6	11	0	0	0	0	6	11				
SIGLEC6	946	broad.mit.edu	37	19	52034681	52034681	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:52034681G>A	ENST00000425629.3	-	2	314	c.160C>T	c.(160-162)Ccc>Tcc	p.P54S	SIGLEC6_ENST00000346477.3_Missense_Mutation_p.P54S|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P54S|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P54S|SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.P54S|SIGLEC6_ENST00000436458.1_Intron	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	54	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGGGTAGTGGGCAATCTGCAG	0.597																																						uc002pwy.2		NA																	0				ovary(1)	1						c.(160-162)CCC>TCC		sialic acid binding Ig-like lectin 6 isoform 1							70.0	75.0	74.0					19																	52034681		2195	4297	6492	SO:0001583	missense	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52034681G>A	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.160C>T	19.37:g.52034681G>A	ENSP00000401502:p.Pro54Ser					SIGLEC6_uc002pwz.2_Missense_Mutation_p.P54S|SIGLEC6_uc002pxa.2_Missense_Mutation_p.P54S|SIGLEC6_uc010ydb.1_Intron|SIGLEC6_uc010ydc.1_Missense_Mutation_p.P43S|SIGLEC6_uc010eoz.1_Missense_Mutation_p.P43S|SIGLEC6_uc010epb.1_Intron|SIGLEC6_uc010epa.1_Missense_Mutation_p.P43S	p.P54S	NM_001245	NP_001236	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	2	322	-		all_neural(266;0.0199)	54			Extracellular (Potential).|Ig-like V-type.		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	c.160C>T	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	G	2.471	-0.321997	0.05386	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000343300;ENST00000426829	T;T;T;T	0.61742	0.08;0.08;0.08;0.08	2.76	-5.52	0.02560	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.14356	0.0347	N	0.00358	-1.6	0.09310	N	1	B;B;B;B;B;B	0.17852	0.005;0.002;0.005;0.01;0.019;0.024	B;B;B;B;B;B	0.12156	0.0;0.0;0.0;0.007;0.002;0.001	T	0.22661	-1.0210	9	0.02654	T	1	.	6.1431	0.20271	0.2016:0.4493:0.3491:0.0	.	54;54;54;54;54;54	F8WA78;C9JUT6;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;SIGL6_HUMAN	S	43;54;54;54;54;54	ENSP00000375674:P54S;ENSP00000401502:P54S;ENSP00000353071:P54S;ENSP00000345907:P54S	ENSP00000345907:P54S	P	-	1	0	SIGLEC6	56726493	0.003000	0.15002	0.000000	0.03702	0.059000	0.15707	0.071000	0.14594	-1.660000	0.01486	0.194000	0.17425	CCC		0.597	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		13	54	0	0	0	0	13	54				
ZNF761	388561	broad.mit.edu	37	19	53959369	53959369	+	RNA	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:53959369C>T	ENST00000454407.1	+	0	2061							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GGAAGTCATCCCTTACCTGCC	0.443																																						uc010eqp.2		NA																	0				ovary(1)	1						c.(1606-1608)TCC>TCT		zinc finger protein 761							102.0	101.0	101.0					19																	53959369		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53959369C>T	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53959369C>T						ZNF761_uc010ydy.1_Silent_p.S482S|ZNF761_uc002qbt.1_Silent_p.S482S	p.S536S	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	7	2066	+			536			C2H2-type 12.		Q6ZNB9	Silent	SNP	ENST00000454407.1	37	c.1608C>T																																																																																					0.443	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		21	82	0	0	0	0	21	82				
CACNG8	59283	broad.mit.edu	37	19	54466508	54466508	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:54466508G>A	ENST00000270458.2	+	1	215	c.112G>A	c.(112-114)Gcc>Acc	p.A38T		NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	38					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CATGACCATCGCCATCAGCAC	0.697																																						uc002qcs.1		NA																	0					0						c.(109-111)GCC>ACC		voltage-dependent calcium channel gamma-8							40.0	38.0	38.0					19																	54466508		2203	4300	6503	SO:0001583	missense	59283				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54466508G>A	AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"""Calcium channel subunits"""	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.112G>A	19.37:g.54466508G>A	ENSP00000270458:p.Ala38Thr						p.A37T	NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN		GBM - Glioblastoma multiforme(134;0.162)	1	215	+	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)		38			Helical; (Potential).		Q9BXT0|Q9BY23	Missense_Mutation	SNP	ENST00000270458.2	37	c.109G>A	CCDS33104.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021109	0.93462	.	.	ENSG00000142408	ENST00000270458	D	0.90261	-2.64	3.66	3.66	0.41972	.	0.000000	0.64402	U	0.000001	D	0.95153	0.8429	M	0.88979	2.995	0.34537	D	0.709796	D	0.76494	0.999	D	0.65233	0.933	D	0.97349	0.9962	9	0.87932	D	0	.	13.2311	0.59945	0.0:0.0:1.0:0.0	.	38	Q8WXS5	CCG8_HUMAN	T	38	ENSP00000270458:A38T	ENSP00000270458:A38T	A	+	1	0	CACNG8	59158320	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.794000	0.91867	1.778000	0.52293	0.297000	0.19635	GCC		0.697	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139361.3			6	16	0	0	0	0	6	16				
LILRA1	11024	broad.mit.edu	37	19	55106777	55106777	+	Missense_Mutation	SNP	C	C	T	rs141328341		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:55106777C>T	ENST00000251372.3	+	5	753	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Missense_Mutation_p.R191C|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	191	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GAGCCCGAGTCGCAGGTGGTC	0.567																																						uc002qgh.1		NA																	0				skin(2)|ovary(1)	3						c.(571-573)CGC>TGC		leukocyte immunoglobulin-like receptor,		C	CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	153.0	158.0	156.0		571	0.9	0.0	19	dbSNP_134	156	0,8600		0,0,4300	no	missense	LILRA1	NM_006863.1	180	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	191/490	55106777	3,13003	2203	4300	6503	SO:0001583	missense	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106777C>T	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.571C>T	19.37:g.55106777C>T	ENSP00000251372:p.Arg191Cys					LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.R191C	p.R191C	NM_006863	NP_006854	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	5	753	+			191			Ig-like C2-type 2.|Extracellular (Potential).		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	c.571C>T	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	C	8.967	0.972066	0.18736	6.81E-4	0.0	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.03181	4.02;4.02	2.24	0.928	0.19443	Immunoglobulin-like fold (1);	1.389240	0.04584	N	0.395426	T	0.06600	0.0169	M	0.72353	2.195	0.09310	N	1	B;B	0.25169	0.119;0.033	B;B	0.23275	0.045;0.009	T	0.40942	-0.9536	10	0.54805	T	0.06	.	5.8947	0.18933	0.0:0.664:0.336:0.0	.	191;191	O75019-2;O75019	.;LIRA1_HUMAN	C	191	ENSP00000251372:R191C;ENSP00000413715:R191C	ENSP00000251372:R191C	R	+	1	0	LILRA1	59798589	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-0.136000	0.10405	1.198000	0.43158	0.194000	0.17425	CGC		0.567	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		60	159	0	0	0	0	60	159				
NLRP7	199713	broad.mit.edu	37	19	55450945	55450945	+	Silent	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr19:55450945C>T	ENST00000590030.1	-	3	1282	c.1242G>A	c.(1240-1242)acG>acA	p.T414T	NLRP7_ENST00000446217.1_Silent_p.T442T|NLRP7_ENST00000340844.2_Silent_p.T414T|NLRP7_ENST00000592784.1_Silent_p.T414T|NLRP7_ENST00000588756.1_Silent_p.T414T|NLRP7_ENST00000448121.2_Silent_p.T414T|NLRP7_ENST00000328092.5_Silent_p.T414T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	414	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GGAGGCTCAGCGTCCGCAGCG	0.711																																						uc002qih.3		NA																	0				large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(1240-1242)ACG>ACA		NACHT, leucine rich repeat and PYD containing 7							16.0	14.0	15.0					19																	55450945		2167	4243	6410	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55450945C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1242G>A	19.37:g.55450945C>T						NLRP7_uc002qig.3_Silent_p.T414T|NLRP7_uc002qii.3_Silent_p.T414T|NLRP7_uc010esk.2_Silent_p.T414T|NLRP7_uc010esl.2_Silent_p.T442T	p.T414T	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	1318	-			414			NACHT.		E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.1242G>A	CCDS33109.1																																																																																				0.711	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		5	31	0	0	0	0	5	31				
TTC27	55622	broad.mit.edu	37	2	33007733	33007733	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:33007733G>A	ENST00000317907.4	+	15	2051	c.1820G>A	c.(1819-1821)cGa>cAa	p.R607Q		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	607										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TCCTATATCCGATTAAAACAA	0.294																																						uc002rom.2		NA																	0				central_nervous_system(1)	1						c.(1819-1821)CGA>CAA		tetratricopeptide repeat domain 27							63.0	64.0	63.0					2																	33007733		2201	4291	6492	SO:0001583	missense	55622						protein binding	g.chr2:33007733G>A	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.1820G>A	2.37:g.33007733G>A	ENSP00000313953:p.Arg607Gln					TTC27_uc010ymx.1_Missense_Mutation_p.R557Q|TTC27_uc002ron.2_RNA	p.R607Q	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN			15	2051	+			607			TPR 5.|HAT 2.		A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Missense_Mutation	SNP	ENST00000317907.4	37	c.1820G>A	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	g	29.0	4.969667	0.92855	.	.	ENSG00000018699	ENST00000317907	T	0.58940	0.3	5.9	5.9	0.94986	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.049024	0.85682	D	0.000000	T	0.71048	0.3294	L	0.48362	1.52	0.58432	D	0.999998	D	0.89917	1.0	D	0.68943	0.961	T	0.65874	-0.6062	10	0.35671	T	0.21	-11.3179	20.2836	0.98532	0.0:0.0:1.0:0.0	.	607	Q6P3X3	TTC27_HUMAN	Q	607	ENSP00000313953:R607Q	ENSP00000313953:R607Q	R	+	2	0	TTC27	32861237	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.610000	0.82949	2.789000	0.95967	0.651000	0.88453	CGA		0.294	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735		14	43	0	0	0	0	14	43				
THADA	63892	broad.mit.edu	37	2	43804258	43804258	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:43804258T>G	ENST00000405006.4	-	10	1291	c.940A>C	c.(940-942)Aca>Cca	p.T314P	THADA_ENST00000330266.7_Missense_Mutation_p.T24P|THADA_ENST00000405975.2_Missense_Mutation_p.T314P|THADA_ENST00000403856.1_Missense_Mutation_p.T314P|THADA_ENST00000402360.2_Missense_Mutation_p.T314P|THADA_ENST00000404790.1_Missense_Mutation_p.T314P|THADA_ENST00000415080.2_Missense_Mutation_p.T24P	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	314										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ATGGCAAGTGTCCCCTGACAG	0.542											OREG0014580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002rsw.3		NA																	0				ovary(2)|skin(1)	3						c.(940-942)ACA>CCA		thyroid adenoma associated							54.0	55.0	54.0					2																	43804258		1974	4169	6143	SO:0001583	missense	63892						binding	g.chr2:43804258T>G	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.940A>C	2.37:g.43804258T>G	ENSP00000385995:p.Thr314Pro		OREG0014580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	919	THADA_uc002rsx.3_Missense_Mutation_p.T314P|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_5'Flank|THADA_uc002rsz.2_Missense_Mutation_p.T24P|THADA_uc002rta.2_Missense_Mutation_p.T24P|THADA_uc002rtb.1_Missense_Mutation_p.T314P|THADA_uc002rtc.3_Missense_Mutation_p.T314P|THADA_uc002rtd.2_Missense_Mutation_p.T314P	p.T314P	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN			10	1292	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	314					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.940A>C	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	T	15.65	2.896332	0.52121	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T;T;T	0.32988	1.48;2.89;2.71;2.89;1.47;1.47;1.43	5.55	0.533	0.17121	.	0.160168	0.56097	D	0.000040	T	0.40619	0.1124	M	0.63428	1.95	0.36097	D	0.843866	D;P;P;P;P	0.59357	0.985;0.874;0.709;0.802;0.877	P;P;B;B;B	0.56916	0.809;0.491;0.353;0.218;0.296	T	0.47341	-0.9125	10	0.51188	T	0.08	-1.7015	8.7747	0.34753	0.0:0.6624:0.0:0.3376	.	314;314;314;24;314	B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6	.;.;.;.;THADA_HUMAN	P	24;314;314;24;314;314;314;314	ENSP00000331105:T24P;ENSP00000386088:T314P;ENSP00000416048:T24P;ENSP00000385995:T314P;ENSP00000385441:T314P;ENSP00000384266:T314P;ENSP00000385469:T314P	ENSP00000331105:T24P	T	-	1	0	THADA	43657762	1.000000	0.71417	0.885000	0.34714	0.792000	0.44763	3.015000	0.49599	0.098000	0.17522	0.459000	0.35465	ACA		0.542	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		5	13	0	0	0	0	5	13				
CCDC138	165055	broad.mit.edu	37	2	109408186	109408186	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:109408186G>A	ENST00000295124.4	+	4	382	c.322G>A	c.(322-324)Gag>Aag	p.E108K	CCDC138_ENST00000412964.2_Missense_Mutation_p.E108K|CCDC138_ENST00000470608.1_3'UTR	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	108										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						AACAGAAGAAGAGTTAATTGA	0.269																																						uc002ten.1		NA																	0					0						c.(322-324)GAG>AAG		coiled-coil domain containing 138							81.0	96.0	91.0					2																	109408186		2197	4285	6482	SO:0001583	missense	165055							g.chr2:109408186G>A	AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.322G>A	2.37:g.109408186G>A	ENSP00000295124:p.Glu108Lys					CCDC138_uc002teo.1_Missense_Mutation_p.E108K|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR	p.E108K	NM_144978	NP_659415	Q96M89	CC138_HUMAN			4	382	+			108					Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Missense_Mutation	SNP	ENST00000295124.4	37	c.322G>A	CCDS2080.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763491	0.49574	.	.	ENSG00000163006	ENST00000412964;ENST00000295124	D;D	0.90444	-2.67;-2.67	5.77	4.9	0.64082	.	0.459161	0.20402	N	0.093022	D	0.86961	0.6059	L	0.51422	1.61	0.31845	N	0.623044	B;B	0.10296	0.003;0.003	B;B	0.13407	0.009;0.005	D	0.83400	0.0022	10	0.25106	T	0.35	.	12.2632	0.54663	0.0799:0.0:0.9201:0.0	.	108;108	Q96M89-2;Q96M89	.;CC138_HUMAN	K	108	ENSP00000411800:E108K;ENSP00000295124:E108K	ENSP00000295124:E108K	E	+	1	0	CCDC138	108774618	1.000000	0.71417	0.954000	0.39281	0.777000	0.43975	2.511000	0.45476	1.445000	0.47624	-0.137000	0.14449	GAG		0.269	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1	NM_144978		36	139	0	0	0	0	36	139				
GLI2	2736	broad.mit.edu	37	2	121746950	121746950	+	Missense_Mutation	SNP	G	G	A	rs200999705	byFrequency	TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:121746950G>A	ENST00000452319.1	+	14	3520	c.3460G>A	c.(3460-3462)Gta>Ata	p.V1154I	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.V1154I					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CTCCGGCACCGTAGACGCCCT	0.622													G|||	6	0.00119808	0.0	0.0	5008	,	,		17245	0.0		0.0	False		,,,				2504	0.0061					uc010flp.2		NA																	0				ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(3460-3462)GTA>ATA		GLI-Kruppel family member GLI2							27.0	25.0	26.0					2																	121746950		2176	4256	6432	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121746950G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.3460G>A	2.37:g.121746950G>A	ENSP00000390436:p.Val1154Ile					GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Missense_Mutation_p.V826I|GLI2_uc002tmu.3_Missense_Mutation_p.V809I	p.V1154I	NM_005270	NP_005261	P10070	GLI2_HUMAN			13	3490	+	Renal(3;0.0496)	Prostate(154;0.0623)	1154						Missense_Mutation	SNP	ENST00000452319.1	37	c.3460G>A	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.497262	0.26861	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.15718	2.4;2.4	4.87	-7.67	0.01272	.	0.614735	0.17442	N	0.174083	T	0.15869	0.0382	M	0.68952	2.095	0.38962	D	0.958563	P;P	0.48589	0.714;0.912	B;B	0.35688	0.084;0.208	T	0.31833	-0.9929	9	.	.	.	.	21.3879	0.99952	0.1055:0.0:0.8945:0.0	.	1154;809	P10070;P10070-2	GLI2_HUMAN;.	I	1154	ENSP00000390436:V1154I;ENSP00000354586:V1154I	.	V	+	1	0	GLI2	121463420	0.002000	0.14202	0.021000	0.16686	0.623000	0.37688	0.013000	0.13310	-2.229000	0.00720	-0.403000	0.06358	GTA		0.622	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		4	30	0	0	0	0	4	30				
NEB	4703	broad.mit.edu	37	2	152543963	152543963	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:152543963G>C	ENST00000172853.10	-	27	2754	c.2607C>G	c.(2605-2607)caC>caG	p.H869Q	NEB_ENST00000604864.1_Missense_Mutation_p.H869Q|NEB_ENST00000603639.1_Missense_Mutation_p.H869Q|NEB_ENST00000409198.1_Missense_Mutation_p.H869Q|NEB_ENST00000397345.3_Missense_Mutation_p.H869Q|NEB_ENST00000427231.2_Missense_Mutation_p.H869Q			P20929	NEBU_HUMAN	nebulin	869					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTTCAAGGAGTGCAGCATCT	0.438																																						uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(2605-2607)CAC>CAG		nebulin isoform 3							246.0	236.0	239.0					2																	152543963		1980	4164	6144	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152543963G>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.2607C>G	2.37:g.152543963G>C	ENSP00000172853:p.His869Gln						p.H869Q	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	27	2798	-			869			Nebulin 20.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.2607C>G		.	.	.	.	.	.	.	.	.	.	G	12.19	1.863143	0.32884	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.54	1.72	0.24424	.	0.050796	0.85682	D	0.000000	T	0.59211	0.2177	M	0.84948	2.725	0.80722	D	1	P	0.34699	0.464	P	0.47705	0.555	T	0.54207	-0.8328	10	0.27082	T	0.32	.	9.5248	0.39158	0.3656:0.0:0.6344:0.0	.	869	P20929	NEBU_HUMAN	Q	869	ENSP00000386259:H869Q;ENSP00000380505:H869Q;ENSP00000416578:H869Q;ENSP00000172853:H869Q	ENSP00000172853:H869Q	H	-	3	2	NEB	152252209	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	2.734000	0.47368	0.306000	0.22856	-0.136000	0.14681	CAC		0.438	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		43	155	0	0	0	0	43	155				
CERKL	375298	broad.mit.edu	37	2	182423402	182423402	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:182423402G>A	ENST00000339098.5	-	6	788	c.789C>T	c.(787-789)agC>agT	p.S263S	CERKL_ENST00000374970.2_Intron|CERKL_ENST00000410087.3_Silent_p.S237S|CERKL_ENST00000374969.2_Intron|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Silent_p.S219S			Q49MI3	CERKL_HUMAN	ceramide kinase-like	263	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GGGCTACTTCGCTAGCAGATC	0.433																																						uc002unx.2		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(787-789)AGC>AGT		ceramide kinase-like isoform b							114.0	112.0	113.0					2																	182423402		1960	4162	6122	SO:0001819	synonymous_variant	375298				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity	g.chr2:182423402G>A	BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.789C>T	2.37:g.182423402G>A						CERKL_uc002uny.2_Silent_p.S237S|CERKL_uc010zfm.1_Silent_p.S219S|CERKL_uc002unz.2_5'UTR|CERKL_uc002uoa.2_Intron|CERKL_uc002uob.2_5'UTR|CERKL_uc002uoc.2_Intron|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_Silent_p.S32S|CERKL_uc002uoe.2_Silent_p.S237S	p.S263S	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		6	890	-			263			DAGKc.		B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Silent	SNP	ENST00000339098.5	37	c.789C>T	CCDS42789.1																																																																																				0.433	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			15	28	0	0	0	0	15	28				
DNAJC10	54431	broad.mit.edu	37	2	183616459	183616459	+	Nonsense_Mutation	SNP	C	C	T	rs75109237		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:183616459C>T	ENST00000264065.7	+	15	1796	c.1381C>T	c.(1381-1383)Caa>Taa	p.Q461*		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	461	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.|Trxb 2.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GCTTGGACCTCAAAATTTTCC	0.368																																					Pancreas(56;860 1183 25669 35822 48585)	uc002uow.1		NA																	0				ovary(1)|large_intestine(1)|breast(1)|skin(1)	4						c.(1381-1383)CAA>TAA		DnaJ (Hsp40) homolog, subfamily C, member 10							157.0	163.0	161.0					2																	183616459		2203	4300	6503	SO:0001587	stop_gained	54431				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	g.chr2:183616459C>T		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.1381C>T	2.37:g.183616459C>T	ENSP00000264065:p.Gln461*					DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Nonsense_Mutation_p.Q415*|DNAJC10_uc010fro.1_RNA	p.Q461*	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		15	1796	+			461			Thioredoxin 2.		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Nonsense_Mutation	SNP	ENST00000264065.7	37	c.1381C>T	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	C	42	9.543640	0.99201	.	.	ENSG00000077232	ENST00000264065;ENST00000392392	.	.	.	6.03	6.03	0.97812	.	0.113059	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	15.3018	0.73958	0.1399:0.8601:0.0:0.0	.	.	.	.	X	461;415	.	ENSP00000264065:Q461X	Q	+	1	0	DNAJC10	183324704	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.677000	0.61634	2.854000	0.98071	0.655000	0.94253	CAA		0.368	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		40	165	0	0	0	0	40	165				
IQCA1	79781	broad.mit.edu	37	2	237374156	237374156	+	Silent	SNP	G	G	A	rs371883914		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr2:237374156G>A	ENST00000409907.3	-	6	1192	c.918C>T	c.(916-918)atC>atT	p.I306I	IQCA1_ENST00000431676.2_Silent_p.I306I|IQCA1_ENST00000309507.5_Silent_p.I302I	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	306							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						ACCTGCATTCGATGAACCAAT	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		20702	0.0		0.0	False		,,,				2504	0.001					uc002vvz.1		NA																	0				ovary(1)	1						c.(916-918)ATC>ATT		IQ motif containing with AAA domain 1		G		0,3966		0,0,1983	153.0	140.0	144.0		918	-6.7	0.8	2		144	1,8327		0,1,4163	no	coding-synonymous	IQCA1	NM_024726.3		0,1,6146	AA,AG,GG		0.012,0.0,0.0081		306/823	237374156	1,12293	1983	4164	6147	SO:0001819	synonymous_variant	79781						ATP binding	g.chr2:237374156G>A	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.918C>T	2.37:g.237374156G>A						IQCA1_uc002vwb.2_Silent_p.I313I|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Silent_p.I306I	p.I306I	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN			6	1100	-			306					B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Silent	SNP	ENST00000409907.3	37	c.918C>T	CCDS46549.1	.	.	.	.	.	.	.	.	.	.	G	2.721	-0.266588	0.05754	0.0	1.2E-4	ENSG00000132321	ENST00000418802	.	.	.	5.43	-6.65	0.01795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.2185	0.01919	0.3809:0.1728:0.2746:0.1717	.	.	.	.	X	325	.	.	R	-	1	2	IQCA1	237038895	0.709000	0.27886	0.842000	0.33263	0.241000	0.25554	-0.275000	0.08525	-1.121000	0.02949	-1.166000	0.01754	CGA		0.423	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		11	30	0	0	0	0	11	30				
DEFB124	245937	broad.mit.edu	37	20	30053437	30053437	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr20:30053437C>T	ENST00000317676.2	-	2	87	c.88G>A	c.(88-90)Ggt>Agt	p.G30S		NM_001037500.1	NP_001032589.1	Q8NES8	DB124_HUMAN	defensin, beta 124	30					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)						Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GCCCCTTGACCCTTCCAGCAC	0.522																																						uc002wvz.1		NA																	0					0						c.(88-90)GGT>AGT		beta-defensin 124 precursor							122.0	118.0	119.0					20																	30053437		2203	4300	6503	SO:0001583	missense	245937				defense response to bacterium	extracellular region		g.chr20:30053437C>T	DQ119827	CCDS33457.1	20q11.1	2008-07-17			ENSG00000180383	ENSG00000180383		"""Defensins, beta"""	18104	protein-coding gene	gene with protein product	"""defensin, beta 24"""					11854508, 16033865	Standard	NM_001037500		Approved	DEFB-24	uc002wvz.1	Q8NES8	OTTHUMG00000159287	ENST00000317676.2:c.88G>A	20.37:g.30053437C>T	ENSP00000326309:p.Gly30Ser						p.G30S	NM_001037500	NP_001032589	Q8NES8	DB124_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	88	-	Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		30					Q30E74	Missense_Mutation	SNP	ENST00000317676.2	37	c.88G>A	CCDS33457.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645189	0.87859	.	.	ENSG00000180383	ENST00000317676	T	0.12569	2.67	4.6	4.6	0.57074	.	0.000000	0.52532	D	0.000071	T	0.36496	0.0969	.	.	.	0.39986	D	0.974982	D	0.89917	1.0	D	0.97110	1.0	T	0.19943	-1.0290	9	0.87932	D	0	-0.9369	13.1219	0.59331	0.0:1.0:0.0:0.0	.	30	Q8NES8	DB124_HUMAN	S	30	ENSP00000326309:G30S	ENSP00000326309:G30S	G	-	1	0	DEFB124	29517098	0.996000	0.38824	1.000000	0.80357	0.958000	0.62258	3.014000	0.49590	2.557000	0.86248	0.585000	0.79938	GGT		0.522	DEFB124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354416.1	NM_001037500		39	141	0	0	0	0	39	141				
SLC12A5	57468	broad.mit.edu	37	20	44680470	44680470	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr20:44680470C>T	ENST00000454036.2	+	18	2456	c.2407C>T	c.(2407-2409)Cgc>Tgc	p.R803C	SLC12A5_ENST00000243964.3_Missense_Mutation_p.R780C	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	803					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.R780C(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCGCAACTGGCGCCAGAAGGA	0.622																																						uc010zxl.1		NA																	2	Substitution - Missense(2)		large_intestine(1)|endometrium(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(2407-2409)CGC>TGC		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						57.0	59.0	58.0					20																	44680470		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44680470C>T	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2407C>T	20.37:g.44680470C>T	ENSP00000387694:p.Arg803Cys					SLC12A5_uc002xrb.2_Missense_Mutation_p.R780C	p.R803C	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			18	2483	+		Myeloproliferative disorder(115;0.0122)	803					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.2407C>T	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378090	0.61735	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.85955	-2.05;-2.05	4.02	0.702	0.18110	.	0.293334	0.32175	N	0.006475	D	0.90642	0.7065	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.64042	0.836;0.921	D	0.90193	0.4251	10	0.87932	D	0	.	12.0918	0.53730	0.5948:0.4052:0.0:0.0	.	803;780	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	C	803;780	ENSP00000387694:R803C;ENSP00000243964:R780C	ENSP00000243964:R780C	R	+	1	0	SLC12A5	44113877	0.991000	0.36638	0.997000	0.53966	0.978000	0.69477	0.333000	0.19768	0.058000	0.16222	0.462000	0.41574	CGC		0.622	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			45	92	0	0	0	0	45	92				
OGFR	11054	broad.mit.edu	37	20	61444556	61444556	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr20:61444556C>T	ENST00000290291.6	+	7	1614	c.1589C>T	c.(1588-1590)gCa>gTa	p.A530V	OGFR_ENST00000370461.1_Missense_Mutation_p.A478V	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	530	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GCAGGACCTGCAGGGGACGAG	0.701																																						uc002ydj.2		NA																	0					0						c.(1588-1590)GCA>GTA		opioid growth factor receptor							10.0	16.0	14.0					20																	61444556		2140	4224	6364	SO:0001583	missense	11054				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity	g.chr20:61444556C>T	AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.1589C>T	20.37:g.61444556C>T	ENSP00000290291:p.Ala530Val					OGFR_uc002ydk.2_Missense_Mutation_p.A513V|OGFR_uc002ydl.2_Missense_Mutation_p.A478V|uc011aam.1_Silent_p.L29L	p.A530V	NM_007346	NP_031372	Q9NZT2	OGFR_HUMAN			7	1624	+	Breast(26;3.65e-08)		530			1.|7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].		O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Missense_Mutation	SNP	ENST00000290291.6	37	c.1589C>T	CCDS13504.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635075	0.29068	.	.	ENSG00000060491	ENST00000290291;ENST00000357163;ENST00000370469;ENST00000370461	T;T	0.39056	1.1;1.1	2.73	0.599	0.17519	.	16.948700	0.00166	N	0.000003	T	0.26557	0.0649	N	0.19112	0.55	0.09310	N	1	P;P;P	0.37914	0.458;0.611;0.458	B;B;B	0.34931	0.192;0.093;0.093	T	0.10337	-1.0634	10	0.32370	T	0.25	.	3.3698	0.07216	0.2031:0.5546:0.0:0.2423	.	530;513;530	B3KMQ6;Q05BV5;Q9NZT2	.;.;OGFR_HUMAN	V	530;530;385;478	ENSP00000290291:A530V;ENSP00000359491:A478V	ENSP00000290291:A530V	A	+	2	0	OGFR	60915001	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.242000	0.18087	0.015000	0.14971	0.313000	0.20887	GCA		0.701	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			4	15	0	0	0	0	4	15				
ADAMTS5	11096	broad.mit.edu	37	21	28338153	28338153	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr21:28338153G>A	ENST00000284987.5	-	1	679	c.558C>T	c.(556-558)tcC>tcT	p.S186S		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	186					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GGATCCGTGCGGACCCATCCC	0.697																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(556-558)TCC>TCT		ADAM metallopeptidase with thrombospondin type 1							21.0	25.0	24.0					21																	28338153		2197	4290	6487	SO:0001819	synonymous_variant	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28338153G>A	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.558C>T	21.37:g.28338153G>A							p.S186S	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			1	1287	-			186					Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	c.558C>T	CCDS13579.1																																																																																				0.697	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			5	19	0	0	0	0	5	19				
SLC25A20	788	broad.mit.edu	37	3	48921543	48921543	+	Silent	SNP	T	T	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr3:48921543T>C	ENST00000319017.4	-	3	411	c.213A>G	c.(211-213)ctA>ctG	p.L71L	SLC25A20_ENST00000430379.1_Intron|SLC25A20_ENST00000544097.1_Silent_p.L21L	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	71					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	TTCCCCGATATAGCCCCGTGA	0.498																																						uc003cva.3		NA																	0					0						c.(211-213)CTA>CTG		carnitine/acylcarnitine translocase	L-Carnitine(DB00583)						78.0	69.0	72.0					3																	48921543		2203	4300	6503	SO:0001819	synonymous_variant	788				carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity	g.chr3:48921543T>C	Y10319	CCDS2779.1	3p21.31	2013-05-22			ENSG00000178537	ENSG00000178537		"""Solute carriers"""	1421	protein-coding gene	gene with protein product	"""carnitine-acylcarnitine carrier"", ""carnitine/acylcarnitine translocase"""	613698		CACT		9399886, 9533014	Standard	NM_000387		Approved	CAC	uc003cva.4	O43772	OTTHUMG00000133538	ENST00000319017.4:c.213A>G	3.37:g.48921543T>C						SLC25A20_uc011bbw.1_Silent_p.L21L|SLC25A20_uc010hkj.2_Intron	p.L71L	NM_000387	NP_000378	O43772	MCAT_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	388	-			71			Solcar 1.|Mitochondrial matrix (Potential).		B2R7F4|Q9UIQ2	Silent	SNP	ENST00000319017.4	37	c.213A>G	CCDS2779.1																																																																																				0.498	SLC25A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257516.2	NM_000387		30	54	0	0	0	0	30	54				
JAKMIP1	152789	broad.mit.edu	37	4	6107634	6107634	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr4:6107634G>A	ENST00000282924.5	-	3	675	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.R64W|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R64W	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	64	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCCGTGTGCCGTCGCTGCTCC	0.672																																						uc003giu.3		NA																	0				large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(190-192)CGG>TGG		janus kinase and microtubule interacting protein							34.0	32.0	33.0					4																	6107634		2174	4268	6442	SO:0001583	missense	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6107634G>A	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.190C>T	4.37:g.6107634G>A	ENSP00000282924:p.Arg64Trp					JAKMIP1_uc010idb.1_Missense_Mutation_p.R64W|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.R64W|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.R64W|JAKMIP1_uc010ide.2_Missense_Mutation_p.R64W	p.R64W	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN			3	466	-			64			Potential.|Mediates association with microtubules.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	c.190C>T	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797996	0.70567	.	.	ENSG00000152969	ENST00000409021;ENST00000418227;ENST00000425341;ENST00000282924;ENST00000409831	T;T;T	0.10099	2.91;2.91;2.91	3.93	2.01	0.26516	.	0.233415	0.27294	N	0.020026	T	0.16642	0.0400	L	0.48642	1.525	0.80722	D	1	D;B;D	0.63880	0.987;0.003;0.993	P;B;P	0.56751	0.715;0.002;0.805	T	0.01436	-1.1355	10	0.87932	D	0	.	6.6536	0.22975	0.1043:0.0:0.6666:0.2291	.	64;64;64	F2Z2K5;Q96N16-2;Q96N16	.;.;JKIP1_HUMAN	W	64	ENSP00000386711:R64W;ENSP00000282924:R64W;ENSP00000386925:R64W	ENSP00000282924:R64W	R	-	1	2	JAKMIP1	6158535	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.986000	0.40677	0.975000	0.38392	0.484000	0.47621	CGG		0.672	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		15	45	0	0	0	0	15	45				
RBM47	54502	broad.mit.edu	37	4	40440734	40440734	+	Silent	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr4:40440734C>T	ENST00000381793.2	-	3	573	c.177G>A	c.(175-177)ccG>ccA	p.P59P	RBM47_ENST00000319592.4_Silent_p.P59P|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Silent_p.P21P|RBM47_ENST00000381795.6_Silent_p.P59P|RBM47_ENST00000295971.7_Silent_p.P59P			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	59					hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCCAGCCGGGCGGTGGGCCGC	0.711																																						uc003gvc.2		NA																	0				breast(3)	3						c.(175-177)CCG>CCA		RNA binding motif protein 47 isoform a							11.0	14.0	13.0					4																	40440734		2180	4242	6422	SO:0001819	synonymous_variant	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440734C>T	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.177G>A	4.37:g.40440734C>T						RBM47_uc003gvd.2_Silent_p.P59P|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Silent_p.P21P|RBM47_uc003gvg.1_Silent_p.P59P	p.P59P	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN			4	887	-			59					A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	ENST00000381793.2	37	c.177G>A	CCDS43223.1																																																																																				0.711	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		3	11	0	0	0	0	3	11				
GABRG1	2565	broad.mit.edu	37	4	46099293	46099293	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr4:46099293G>T	ENST00000295452.4	-	2	345	c.178C>A	c.(178-180)Cat>Aat	p.H60N		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	60					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCTCCTTCATGAATTTTTGGG	0.368																																						uc003gxb.2		NA																	0				ovary(2)	2						c.(178-180)CAT>AAT		gamma-aminobutyric acid A receptor, gamma 1							178.0	179.0	179.0					4																	46099293		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46099293G>T	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.178C>A	4.37:g.46099293G>T	ENSP00000295452:p.His60Asn						p.H60N	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	2	330	-			60			Extracellular (Probable).		Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.178C>A	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121256	0.37436	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.65364	-0.15	4.96	4.96	0.65561	.	0.967423	0.08598	N	0.921937	T	0.61286	0.2335	L	0.53249	1.67	0.47009	D	0.999281	P	0.36789	0.57	B	0.40602	0.334	T	0.56105	-0.8034	10	0.02654	T	1	.	17.3741	0.87386	0.0:0.0:1.0:0.0	.	60	Q8N1C3	GBRG1_HUMAN	N	60	ENSP00000295452:H60N	ENSP00000295452:H60N	H	-	1	0	GABRG1	45794050	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	7.080000	0.76837	2.567000	0.86603	0.655000	0.94253	CAT		0.368	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		16	133	1	0	3.53e-06	3.96e-06	16	133				
ADAMTS3	9508	broad.mit.edu	37	4	73148992	73148992	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr4:73148992G>A	ENST00000286657.4	-	22	3515	c.3479C>T	c.(3478-3480)tCa>tTa	p.S1160L		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1160					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTGTGAAGCTGAACTGAGGTG	0.498																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.1		NA																	0				ovary(1)|lung(1)	2						c.(3478-3480)TCA>TTA		ADAM metallopeptidase with thrombospondin type 1							193.0	171.0	179.0					4																	73148992		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73148992G>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.3479C>T	4.37:g.73148992G>A	ENSP00000286657:p.Ser1160Leu						p.S1160L	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		22	3516	-			1160					A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.3479C>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	5.386	0.256522	0.10185	.	.	ENSG00000156140	ENST00000286657	T	0.62639	0.01	5.56	5.56	0.83823	.	0.787008	0.10794	N	0.633419	T	0.55529	0.1926	L	0.44542	1.39	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.39921	-0.9590	10	0.31617	T	0.26	.	12.4157	0.55492	0.1202:0.0:0.8798:0.0	.	1160	O15072	ATS3_HUMAN	L	1160	ENSP00000286657:S1160L	ENSP00000286657:S1160L	S	-	2	0	ADAMTS3	73367856	0.413000	0.25400	0.094000	0.20943	0.018000	0.09664	3.393000	0.52544	2.620000	0.88729	0.591000	0.81541	TCA		0.498	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			8	145	0	0	0	0	8	145				
FGA	2243	broad.mit.edu	37	4	155507529	155507529	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr4:155507529C>A	ENST00000302053.3	-	5	1130	c.1052G>T	c.(1051-1053)aGc>aTc	p.S351I	FGA_ENST00000403106.3_Missense_Mutation_p.S351I	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	351					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGGTCTAGGGCTCCCAGGGTT	0.557																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1		NA																	0				ovary(2)|breast(1)	3						c.(1051-1053)AGC>ATC		fibrinogen, alpha polypeptide isoform alpha-E	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						80.0	85.0	83.0					4																	155507529		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507529C>A		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1052G>T	4.37:g.155507529C>A	ENSP00000306361:p.Ser351Ile					FGA_uc003ioe.1_Missense_Mutation_p.S351I|FGA_uc003iof.1_Intron	p.S351I	NM_000508	NP_000499	P02671	FIBA_HUMAN			5	1110	-	all_hematologic(180;0.215)	Renal(120;0.0458)	351			By similarity.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1052G>T	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.094938	0.56075	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	D;D	0.82893	-1.66;-1.66	4.88	4.04	0.47022	.	3.595220	0.01364	N	0.012351	D	0.90421	0.7001	M	0.70275	2.135	0.09310	N	1	D;P	0.69078	0.997;0.917	D;P	0.65010	0.931;0.548	T	0.70669	-0.4808	10	0.28530	T	0.3	.	11.2259	0.48884	0.0:0.9086:0.0:0.0914	.	351;351	P02671-2;P02671	.;FIBA_HUMAN	I	351	ENSP00000306361:S351I;ENSP00000385981:S351I	ENSP00000306361:S351I	S	-	2	0	FGA	155726979	0.000000	0.05858	0.002000	0.10522	0.299000	0.27559	0.007000	0.13174	1.052000	0.40392	0.557000	0.71058	AGC		0.557	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		35	59	1	0	1.84e-18	2.16e-18	35	59				
FAT1	2195	broad.mit.edu	37	4	187542861	187542861	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr4:187542861G>A	ENST00000441802.2	-	10	5088	c.4879C>T	c.(4879-4881)Cga>Tga	p.R1627*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1627	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGGTTACTTCGATCTAATTCT	0.368										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(4879-4881)CGA>TGA		FAT tumor suppressor 1 precursor							33.0	32.0	33.0					4																	187542861		1848	4085	5933	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187542861G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4879C>T	4.37:g.187542861G>A	ENSP00000406229:p.Arg1627*	HNSCC(5;0.00058)					p.R1627*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	5067	-			1627			Extracellular (Potential).|Cadherin 14.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.4879C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	45	12.062694	0.99632	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.09	5.09	0.68999	.	0.062767	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	19.0561	0.93066	0.0:0.0:1.0:0.0	.	.	.	.	X	1627;1629	.	ENSP00000260147:R1629X	R	-	1	2	FAT1	187779855	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.830000	0.55768	2.810000	0.96702	0.650000	0.86243	CGA		0.368	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		10	18	0	0	0	0	10	18				
DAB2	1601	broad.mit.edu	37	5	39381673	39381673	+	Missense_Mutation	SNP	C	C	T	rs374766869		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr5:39381673C>T	ENST00000320816.6	-	11	1854	c.1387G>A	c.(1387-1389)Gtc>Atc	p.V463I	DAB2_ENST00000339788.6_Missense_Mutation_p.V245I|DAB2_ENST00000509337.1_Missense_Mutation_p.V442I|DAB2_ENST00000545653.1_Missense_Mutation_p.V442I	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	463					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GGTTCTGAGACGGGAGGAGCA	0.542																																						uc003jlx.2		NA																	0				kidney(2)|skin(1)	3						c.(1387-1389)GTC>ATC		disabled homolog 2		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	123.0	119.0	120.0		1387	-2.2	0.0	5		120	0,8600		0,0,4300	no	missense	DAB2	NM_001343.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	463/771	39381673	1,13005	2203	4300	6503	SO:0001583	missense	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39381673C>T	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1387G>A	5.37:g.39381673C>T	ENSP00000313391:p.Val463Ile					DAB2_uc003jlw.2_Missense_Mutation_p.V442I	p.V463I	NM_001343	NP_001334	P98082	DAB2_HUMAN	Epithelial(62;0.137)		11	1918	-	all_lung(31;0.000197)		463					A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	c.1387G>A	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	C	6.926	0.540582	0.13250	2.27E-4	0.0	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337	T;T;T;T	0.36520	1.28;1.25;1.25;1.25	5.8	-2.25	0.06888	.	1.104930	0.06675	N	0.766898	T	0.23649	0.0572	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30446	-0.9978	10	0.16896	T	0.51	0.7637	12.3456	0.55119	0.0:0.3412:0.0:0.6588	.	463;442	P98082;P98082-3	DAB2_HUMAN;.	I	463;245;442;442	ENSP00000313391:V463I;ENSP00000345508:V245I;ENSP00000439919:V442I;ENSP00000426245:V442I	ENSP00000313391:V463I	V	-	1	0	DAB2	39417430	0.000000	0.05858	0.003000	0.11579	0.977000	0.68977	-1.132000	0.03235	-0.321000	0.08627	-0.794000	0.03295	GTC		0.542	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		46	132	0	0	0	0	46	132				
PDE8B	8622	broad.mit.edu	37	5	76645253	76645253	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr5:76645253C>T	ENST00000264917.5	+	8	931	c.886C>T	c.(886-888)Cca>Tca	p.P296S	PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000342343.4_Missense_Mutation_p.P276S|PDE8B_ENST00000333194.4_Missense_Mutation_p.P296S|PDE8B_ENST00000340978.3_Intron	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	296	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	GTATGTCAACCCAGCCTTCGA	0.507																																						uc003kfa.2		NA																	0					0						c.(886-888)CCA>TCA		phosphodiesterase 8B isoform 1							112.0	96.0	102.0					5																	76645253		2203	4300	6503	SO:0001583	missense	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76645253C>T	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.886C>T	5.37:g.76645253C>T	ENSP00000264917:p.Pro296Ser					PDE8B_uc003kfb.2_Missense_Mutation_p.P276S|PDE8B_uc003kfc.2_Missense_Mutation_p.P296S|PDE8B_uc003kfd.2_Intron|PDE8B_uc003kfe.2_Intron	p.P296S	NM_003719	NP_003710	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	8	931	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	296			PAS.		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	c.886C>T	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	C	31	5.103243	0.94245	.	.	ENSG00000113231	ENST00000264917;ENST00000342343;ENST00000333194;ENST00000503963	T;T;T;T	0.78126	-1.15;-1.15;-1.15;0.82	5.76	5.76	0.90799	PAS (3);PAS fold (1);	0.052741	0.85682	D	0.000000	D	0.89065	0.6609	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.998	D	0.89653	0.3871	10	0.72032	D	0.01	.	18.7409	0.91773	0.0:1.0:0.0:0.0	.	296;276;296	O95263-3;O95263-4;O95263	.;.;PDE8B_HUMAN	S	296;276;296;58	ENSP00000264917:P296S;ENSP00000345646:P276S;ENSP00000331336:P296S;ENSP00000422861:P58S	ENSP00000264917:P296S	P	+	1	0	PDE8B	76681009	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.539000	0.82063	2.733000	0.93635	0.655000	0.94253	CCA		0.507	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		37	23	0	0	0	0	37	23				
PCDHGA4	56111	broad.mit.edu	37	5	140736077	140736077	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr5:140736077A>T	ENST00000571252.1	+	1	1310	c.1310A>T	c.(1309-1311)cAt>cTt	p.H437L	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	437	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGAAACTCATATTTCACTG	0.468																																						uc003ljq.1		NA																	0					0						c.(1309-1311)CAT>CTT		protocadherin gamma subfamily A, 4 isoform 1							80.0	83.0	82.0					5																	140736077		2074	4231	6305	SO:0001583	missense	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140736077A>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1310A>T	5.37:g.140736077A>T	ENSP00000458570:p.His437Leu					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.H437L	p.H437L	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1310	+			437			Cadherin 4.|Extracellular (Potential).		Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.1310A>T	CCDS58979.1																																																																																				0.468	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		21	33	0	0	0	0	21	33				
FOXI1	2299	broad.mit.edu	37	5	169535116	169535116	+	Missense_Mutation	SNP	G	G	A	rs377532550		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr5:169535116G>A	ENST00000306268.6	+	2	699	c.638G>A	c.(637-639)cGc>cAc	p.R213H	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	213					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAAATTTCCGCAGGAAAAGG	0.493									Pendred syndrome																													uc003mai.3		NA																	0				breast(3)|central_nervous_system(1)	4						c.(637-639)CGC>CAC		forkhead box I1 isoform a		G	HIS/ARG,	0,4406		0,0,2203	72.0	71.0	72.0		638,	4.6	1.0	5		72	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	FOXI1	NM_012188.4,NM_144769.2	29,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,	213/379,	169535116	1,13005	2203	4300	6503	SO:0001583	missense	2299	Pendred_syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr5:169535116G>A	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.638G>A	5.37:g.169535116G>A	ENSP00000304286:p.Arg213His					FOXI1_uc003maj.3_Intron	p.R213H	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	683	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	213			Fork-head.		Q14518|Q66SR7|Q8N6L8	Missense_Mutation	SNP	ENST00000306268.6	37	c.638G>A	CCDS4372.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860938	0.91433	0.0	1.16E-4	ENSG00000168269	ENST00000306268	D	0.95756	-3.8	4.55	4.55	0.56014	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (2);	0.000000	0.85682	D	0.000000	D	0.97829	0.9287	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98891	1.0773	10	0.72032	D	0.01	.	17.2946	0.87167	0.0:0.0:1.0:0.0	.	213	Q12951	FOXI1_HUMAN	H	213	ENSP00000304286:R213H	ENSP00000304286:R213H	R	+	2	0	FOXI1	169467694	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.809000	0.99208	2.076000	0.62316	0.455000	0.32223	CGC		0.493	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188		19	34	0	0	0	0	19	34				
HIST1H2BJ	8970	broad.mit.edu	37	6	27100329	27100329	+	Silent	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr6:27100329C>T	ENST00000607124.1	-	1	200	c.201G>A	c.(199-201)gtG>gtA	p.V67V	HIST1H2BJ_ENST00000339812.2_Silent_p.V67V|HIST1H2BJ_ENST00000541790.1_Silent_p.V67V|HIST1H2AG_ENST00000359193.2_5'Flank			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	67					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						AAATGTCGTTCACAAACGAAT	0.562																																						uc003niv.2		NA																	0					0						c.(199-201)GTG>GTA		histone cluster 1, H2bj							169.0	160.0	163.0					6																	27100329		2203	4300	6503	SO:0001819	synonymous_variant	8970				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27100329C>T	X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"""Histones / Replication-dependent"""	4761	protein-coding gene	gene with protein product		615044	"""H2B histone family, member R"", ""histone 1, H2bj"""	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.201G>A	6.37:g.27100329C>T						HIST1H2BJ_uc003niu.1_RNA|HIST1H2AG_uc003niw.2_5'Flank	p.V67V	NM_021058	NP_066402	P06899	H2B1J_HUMAN			1	247	-			67					B2R4J4|O60816	Silent	SNP	ENST00000607124.1	37	c.201G>A	CCDS4618.1																																																																																				0.562	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2	NM_021058		55	161	0	0	0	0	55	161				
EFHC1	114327	broad.mit.edu	37	6	52334164	52334164	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr6:52334164G>A	ENST00000371068.5	+	7	1274	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	EFHC1_ENST00000433625.2_Missense_Mutation_p.E300K|EFHC1_ENST00000538167.1_Missense_Mutation_p.E372K	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	391						axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					TGGACTAGTGGAAGATTCTGC	0.378																																						uc003pap.3		NA																	0				ovary(2)|skin(1)	3						c.(1171-1173)GAA>AAA		EF-hand domain (C-terminal) containing 1							169.0	169.0	169.0					6																	52334164		2203	4300	6503	SO:0001583	missense	114327					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	g.chr6:52334164G>A	AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"""EF-hand domain containing"""	16406	protein-coding gene	gene with protein product	"""myoclonin-1"""	608815	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.1171G>A	6.37:g.52334164G>A	ENSP00000360107:p.Glu391Lys					EFHC1_uc011dwv.1_Missense_Mutation_p.E300K|EFHC1_uc011dww.1_Missense_Mutation_p.E372K	p.E391K	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN			7	1386	+	Lung NSC(77;0.109)		391					B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Missense_Mutation	SNP	ENST00000371068.5	37	c.1171G>A	CCDS4942.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715507	0.89112	.	.	ENSG00000096093	ENST00000371068;ENST00000433625;ENST00000538167	T;T;T	0.72615	-0.45;-0.67;-0.66	5.69	5.69	0.88448	.	0.045148	0.85682	D	0.000000	D	0.84705	0.5531	M	0.89030	3	0.80722	D	1	D;D;D	0.67145	0.996;0.994;0.994	D;D;P	0.64687	0.913;0.928;0.901	D	0.86361	0.1717	10	0.62326	D	0.03	-1.3006	19.8215	0.96599	0.0:0.0:1.0:0.0	.	372;300;391	F5GZD8;B7Z2S4;Q5JVL4	.;.;EFHC1_HUMAN	K	391;300;372	ENSP00000360107:E391K;ENSP00000416492:E300K;ENSP00000444521:E372K	ENSP00000360107:E391K	E	+	1	0	EFHC1	52442123	1.000000	0.71417	0.964000	0.40570	0.446000	0.32137	9.326000	0.96389	2.679000	0.91253	0.650000	0.86243	GAA		0.378	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100		25	90	0	0	0	0	25	90				
DST	667	broad.mit.edu	37	6	56334934	56334934	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr6:56334934C>T	ENST00000361203.3	-	91	21515	c.21508G>A	c.(21508-21510)Gaa>Aaa	p.E7170K	DST_ENST00000370754.5_Missense_Mutation_p.E7459K|DST_ENST00000370769.4_Missense_Mutation_p.E7281K|DST_ENST00000446842.2_Missense_Mutation_p.E6955K|DST_ENST00000370788.2_Missense_Mutation_p.E5084K|DST_ENST00000421834.2_Missense_Mutation_p.E5166K|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.E4867K			Q03001	DYST_HUMAN	dystonin	7279					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACCTCATCTTCGATTTTGTCG	0.378																																						uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(16111-16113)GAA>AAA		dystonin isoform 2							82.0	82.0	82.0					6																	56334934		1950	4133	6083	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56334934C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.21508G>A	6.37:g.56334934C>T	ENSP00000354508:p.Glu7170Lys					DST_uc003pcz.3_Missense_Mutation_p.E5193K|DST_uc011dxj.1_Missense_Mutation_p.E5222K|DST_uc011dxk.1_Missense_Mutation_p.E5233K|DST_uc003pcy.3_Missense_Mutation_p.E4867K|DST_uc003pcw.3_5'Flank|DST_uc003pcx.3_5'Flank	p.E5371K	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		90	16139	-	Lung NSC(77;0.103)		7279			GAR.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.16111G>A		.	.	.	.	.	.	.	.	.	.	C	22.8	4.341307	0.81911	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.63744	1.11;-0.05;-0.06;0.03;0.9;0.03;-0.03	5.56	5.56	0.83823	Growth-arrest-specific protein 2 domain (5);	0.000000	0.51477	D	0.000091	T	0.70072	0.3182	L	0.43152	1.355	0.33074	D	0.535711	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.998	D;D;D;D;P	0.91635	0.995;0.982;0.934;0.999;0.891	T	0.71623	-0.4537	9	0.62326	D	0.03	.	19.5189	0.95177	0.0:1.0:0.0:0.0	.	5166;7281;7459;7279;4867	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	K	4867;7459;7281;5166;6955;5084;7170	ENSP00000244364:E4867K;ENSP00000359790:E7459K;ENSP00000359805:E7281K;ENSP00000400883:E5166K;ENSP00000393645:E6955K;ENSP00000359824:E5084K;ENSP00000354508:E7170K	ENSP00000244364:E4867K	E	-	1	0	DST	56442893	1.000000	0.71417	0.956000	0.39512	0.791000	0.44710	7.792000	0.85828	2.620000	0.88729	0.655000	0.94253	GAA		0.378	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		9	35	0	0	0	0	9	35				
STX1A	6804	broad.mit.edu	37	7	73117214	73117214	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr7:73117214G>A	ENST00000222812.3	-	8	665	c.639C>T	c.(637-639)caC>caT	p.H213H	STX1A_ENST00000395154.3_Silent_p.H213H|STX1A_ENST00000395156.3_Silent_p.H213H|WBSCR22_ENST00000423166.2_Intron|STX1A_ENST00000484736.1_5'Flank|STX1A_ENST00000395155.3_Silent_p.H213H	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	213	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				calcium ion-dependent exocytosis (GO:0017156)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of insulin secretion (GO:0050796)|response to gravity (GO:0009629)|secretion by cell (GO:0032940)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)	actomyosin (GO:0042641)|cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synaptic vesicle membrane (GO:0030672)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)	calcium channel inhibitor activity (GO:0019855)			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				TGAACATGTCGTGTAGCTCAC	0.592																																						uc003tyx.2		NA																	0					0						c.(637-639)CAC>CAT		syntaxin 1A isoform 1							125.0	84.0	98.0					7																	73117214		2203	4300	6503	SO:0001819	synonymous_variant	6804				energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity	g.chr7:73117214G>A		CCDS34655.1, CCDS55120.1	7q11.2	2008-07-18			ENSG00000106089	ENSG00000106089			11433	protein-coding gene	gene with protein product		186590		STX1		1321498	Standard	NM_001165903		Approved	HPC-1, p35-1	uc003tyx.3	Q16623	OTTHUMG00000137422	ENST00000222812.3:c.639C>T	7.37:g.73117214G>A						WBSCR22_uc003tyw.1_Intron|STX1A_uc003tyy.2_Silent_p.H213H|STX1A_uc010lbj.1_Silent_p.H213H	p.H213H	NM_004603	NP_004594	Q16623	STX1A_HUMAN			8	666	-		Lung NSC(55;0.0908)|all_lung(88;0.198)	213			Cytoplasmic (Potential).|t-SNARE coiled-coil homology.		O15447|O15448|Q12936|Q75MD9|Q7Z5K3|Q9BPZ6	Silent	SNP	ENST00000222812.3	37	c.639C>T	CCDS34655.1																																																																																				0.592	STX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268422.1	NM_004603		23	48	0	0	0	0	23	48				
MUC17	140453	broad.mit.edu	37	7	100684621	100684621	+	Silent	SNP	C	C	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr7:100684621C>A	ENST00000306151.4	+	3	9988	c.9924C>A	c.(9922-9924)acC>acA	p.T3308T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3308	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGCTGACACCAGCACACCTG	0.498																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(9922-9924)ACC>ACA		mucin 17 precursor							289.0	298.0	295.0					7																	100684621		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684621C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9924C>A	7.37:g.100684621C>A						MUC17_uc010lho.1_RNA	p.T3308T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	9977	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3308			Extracellular (Potential).|Ser-rich.|53.|59 X approximate tandem repeats.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.9924C>A	CCDS34711.1																																																																																				0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		164	408	1	0	1.33e-76	1.58e-76	164	408				
MKRN1	23608	broad.mit.edu	37	7	140159671	140159671	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr7:140159671G>C	ENST00000255977.2	-	3	604	c.380C>G	c.(379-381)tCc>tGc	p.S127C	MKRN1_ENST00000481705.1_5'Flank|MKRN1_ENST00000474576.1_Missense_Mutation_p.S63C|MKRN1_ENST00000443720.2_Missense_Mutation_p.S127C|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000480552.1_Intron	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	127					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					AGCAGCAAGGGATGACTTTGT	0.403																																						uc003vvt.2		NA																	0				ovary(1)	1						c.(379-381)TCC>TGC		makorin ring finger protein 1 isoform 1							149.0	146.0	147.0					7																	140159671		2203	4300	6503	SO:0001583	missense	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140159671G>C	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"""RING-type (C3HC4) zinc fingers"""	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.380C>G	7.37:g.140159671G>C	ENSP00000255977:p.Ser127Cys					MKRN1_uc003vvs.2_Missense_Mutation_p.S63C|MKRN1_uc011krd.1_Intron|MKRN1_uc003vvv.3_Missense_Mutation_p.S127C|MKRN1_uc003vvu.3_Missense_Mutation_p.S63C	p.S127C	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN			3	605	-	Melanoma(164;0.00956)		127					A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Missense_Mutation	SNP	ENST00000255977.2	37	c.380C>G	CCDS5860.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655345	0.29425	.	.	ENSG00000133606	ENST00000255977;ENST00000539898;ENST00000474576;ENST00000443720;ENST00000471104;ENST00000467513;ENST00000494939;ENST00000473444	T;T;T;T;T;T;T	0.34275	2.76;2.06;2.35;1.71;1.69;1.71;1.37	5.45	3.41	0.39046	.	0.484707	0.22183	N	0.063467	T	0.35364	0.0929	L	0.40543	1.245	0.09310	N	1	D	0.62365	0.991	P	0.52856	0.711	T	0.13575	-1.0504	10	0.56958	D	0.05	.	4.8166	0.13369	0.0861:0.1185:0.598:0.1973	.	127	Q9UHC7	MKRN1_HUMAN	C	127;63;63;127;63;63;63;78	ENSP00000255977:S127C;ENSP00000417863:S63C;ENSP00000416369:S127C;ENSP00000418864:S63C;ENSP00000418588:S63C;ENSP00000419843:S63C;ENSP00000418620:S78C	ENSP00000255977:S127C	S	-	2	0	MKRN1	139806140	0.093000	0.21703	0.011000	0.14972	0.110000	0.19582	1.582000	0.36568	1.290000	0.44636	0.455000	0.32223	TCC		0.403	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		28	71	0	0	0	0	28	71				
ASB10	136371	broad.mit.edu	37	7	150878272	150878272	+	Silent	SNP	G	G	A	rs371957185		TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr7:150878272G>A	ENST00000420175.2	-	3	882	c.858C>T	c.(856-858)gaC>gaT	p.D286D	ASB10_ENST00000422024.1_Silent_p.D331D|ASB10_ENST00000377867.3_Silent_p.D271D|ASB10_ENST00000434669.1_Silent_p.D331D|ASB10_ENST00000275838.1_Silent_p.D286D			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	286					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGCATCAGCGTCTGCTCCAG	0.672																																						uc003wjm.1		NA																	0					0						c.(991-993)GAC>GAT		ankyrin repeat and SOCS box-containing 10		G	,,	2,4400	2.1+/-5.4	0,2,2199	29.0	29.0	29.0		858,858,813	-8.1	0.0	7		29	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	ASB10	NM_001142459.1,NM_001142460.1,NM_080871.3	,,	0,2,6496	AA,AG,GG		0.0,0.0454,0.0154	,,	286/468,286/430,271/453	150878272	2,12994	2201	4297	6498	SO:0001819	synonymous_variant	136371				intracellular signal transduction			g.chr7:150878272G>A	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.858C>T	7.37:g.150878272G>A						ASB10_uc003wjl.1_Silent_p.D331D|ASB10_uc003wjn.1_Silent_p.D271D	p.D331D	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1119	-			286			ANK 5.		A0AVH0|Q6ZUL6	Silent	SNP	ENST00000420175.2	37	c.993C>T	CCDS47750.2																																																																																				0.672	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		5	23	0	0	0	0	5	23				
CSMD1	64478	broad.mit.edu	37	8	2876011	2876011	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr8:2876011T>A	ENST00000520002.1	-	53	8575	c.8020A>T	c.(8020-8022)Act>Tct	p.T2674S	CSMD1_ENST00000602557.1_Missense_Mutation_p.T2674S|CSMD1_ENST00000537824.1_Missense_Mutation_p.T2673S|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2674	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGACATCGAGTTTCGCTGCCG	0.458																																						uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(8020-8022)ACT>TCT		CUB and Sushi multiple domains 1 precursor							186.0	183.0	184.0					8																	2876011		1956	4154	6110	SO:0001583	missense	64478					integral to membrane		g.chr8:2876011T>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8020A>T	8.37:g.2876011T>A	ENSP00000430733:p.Thr2674Ser					CSMD1_uc011kwj.1_Missense_Mutation_p.T2003S|CSMD1_uc010lrg.2_Intron	p.T2674S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	52	8410	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2674			Extracellular (Potential).|Sushi 17.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.8020A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.48|13.48	2.249193|2.249193	0.39797|0.39797	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000520002;ENST00000318252;ENST00000537824	.|T;T	.|0.63417	.|-0.04;-0.04	5.19|5.19	5.19|5.19	0.71726|0.71726	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.65365|0.65365	0.2684|0.2684	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|P;P	.|0.48407	.|0.91;0.898	.|P;P	.|0.47251	.|0.468;0.542	T|T	0.68078|0.68078	-0.5504|-0.5504	5|10	.|0.48119	.|T	.|0.1	.|.	15.3407|15.3407	0.74293|0.74293	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|2674;2674	.|E5RIG2;Q96PZ7	.|.;CSMD1_HUMAN	I|S	2090|2674;2535;2673	.|ENSP00000430733:T2674S;ENSP00000441462:T2673S	.|ENSP00000320445:T2535S	N|T	-|-	2|1	0|0	CSMD1|CSMD1	2863418|2863418	1.000000|1.000000	0.71417|0.71417	0.658000|0.658000	0.29665|0.29665	0.476000|0.476000	0.33039|0.33039	4.885000|4.885000	0.63142|0.63142	2.081000|2.081000	0.62600|0.62600	0.528000|0.528000	0.53228|0.53228	AAC|ACT		0.458	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		109	88	0	0	0	0	109	88				
DENND3	22898	broad.mit.edu	37	8	142146792	142146792	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr8:142146792G>A	ENST00000262585.2	+	2	325	c.47G>A	c.(46-48)tGg>tAg	p.W16*	DENND3_ENST00000424248.1_Nonsense_Mutation_p.W16*|DENND3_ENST00000518347.1_Nonsense_Mutation_p.W96*|DENND3_ENST00000519811.1_Nonsense_Mutation_p.W96*	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	16	UDENN.				cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGAGCAGTGGAAGGGCCTC	0.647																																						uc003yvy.2		NA																	0				ovary(1)	1						c.(46-48)TGG>TAG		DENN/MADD domain containing 3							17.0	22.0	20.0					8																	142146792		2203	4300	6503	SO:0001587	stop_gained	22898							g.chr8:142146792G>A	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.47G>A	8.37:g.142146792G>A	ENSP00000262585:p.Trp16*					DENND3_uc003yvw.1_Nonsense_Mutation_p.W29*|DENND3_uc003yvx.2_Nonsense_Mutation_p.W96*|DENND3_uc010mep.2_Nonsense_Mutation_p.W29*	p.W16*	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		2	325	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		16			UDENN.		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Nonsense_Mutation	SNP	ENST00000262585.2	37	c.47G>A	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.590628	0.66219	.	.	ENSG00000105339	ENST00000519291;ENST00000518347;ENST00000262585;ENST00000424248;ENST00000519811;ENST00000520986;ENST00000523058	.	.	.	5.61	2.61	0.31194	.	1.721060	0.02463	N	0.086746	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-17.5426	10.4062	0.44258	0.0:0.3321:0.4719:0.196	.	.	.	.	X	29;96;16;16;96;96;96	.	ENSP00000262585:W16X	W	+	2	0	DENND3	142215974	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.588000	0.23924	0.688000	0.31529	0.650000	0.86243	TGG		0.647	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		3	30	0	0	0	0	3	30				
ZNF707	286075	broad.mit.edu	37	8	144776477	144776477	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr8:144776477G>A	ENST00000532205.1	+	8	1792	c.893G>A	c.(892-894)cGg>cAg	p.R298Q	RP11-429J17.2_ENST00000531565.1_RNA|ZNF707_ENST00000532158.1_Missense_Mutation_p.R298Q|ZNF707_ENST00000454097.1_Missense_Mutation_p.R298Q|ZNF707_ENST00000358656.4_Missense_Mutation_p.R298Q|ZNF707_ENST00000418203.2_Missense_Mutation_p.R298Q			Q96C28	ZN707_HUMAN	zinc finger protein 707	298					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAAGCCTTCCGGACCAAGGAG	0.632																																						uc003yze.3		NA																	0				breast(1)	1						c.(892-894)CGG>CAG		zinc finger protein 707							29.0	36.0	33.0					8																	144776477		2168	4279	6447	SO:0001583	missense	286075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr8:144776477G>A	AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"""Zinc fingers, C2H2-type"", ""-"""	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.893G>A	8.37:g.144776477G>A	ENSP00000436212:p.Arg298Gln					ZNF707_uc010mfh.2_Missense_Mutation_p.R298Q|ZNF707_uc010mfi.2_Missense_Mutation_p.R298Q|ZNF707_uc003yzf.3_Missense_Mutation_p.R298Q|ZNF707_uc003yzh.3_Missense_Mutation_p.R225Q|ZNF707_uc011lkq.1_RNA|BREA2_uc010mfj.1_5'Flank	p.R298Q	NM_173831	NP_776192	Q96C28	ZN707_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		7	1208	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		298			C2H2-type 5.		A8K317|B3KNY1|D3DWK7	Missense_Mutation	SNP	ENST00000532205.1	37	c.893G>A	CCDS47932.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264683	0.59431	.	.	ENSG00000181135	ENST00000454097;ENST00000358656;ENST00000532158;ENST00000532205;ENST00000418203	T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22	2.86	1.89	0.25635	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21267	0.0512	L	0.31120	0.905	0.27805	N	0.942357	P;D	0.76494	0.844;0.999	P;P	0.58331	0.49;0.837	T	0.07693	-1.0759	8	.	.	.	-19.7483	8.6964	0.34298	0.0:0.0:0.7744:0.2256	.	223;298	B4DV46;Q96C28	.;ZN707_HUMAN	Q	298	ENSP00000409029:R298Q;ENSP00000351482:R298Q;ENSP00000436250:R298Q;ENSP00000436212:R298Q;ENSP00000413215:R298Q	.	R	+	2	0	ZNF707	144848465	0.000000	0.05858	0.981000	0.43875	0.952000	0.60782	-1.151000	0.03175	1.407000	0.46875	0.563000	0.77884	CGG		0.632	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382197.1	NM_173831		5	24	0	0	0	0	5	24				
SCRIB	23513	broad.mit.edu	37	8	144893098	144893098	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr8:144893098G>A	ENST00000320476.3	-	11	1257	c.1251C>T	c.(1249-1251)ccC>ccT	p.P417P	SCRIB_ENST00000356994.2_Silent_p.P417P|SCRIB_ENST00000377533.3_Silent_p.P336P|MIR937_ENST00000401271.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	417	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGGGCTGCTGGGGCAGCAAGT	0.667																																					Pancreas(51;966 1133 10533 14576 29674)	uc003yzp.1		NA																	0				urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(1249-1251)CCC>CCT		scribble isoform b							24.0	25.0	25.0					8																	144893098		2200	4298	6498	SO:0001819	synonymous_variant	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144893098G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1251C>T	8.37:g.144893098G>A						SCRIB_uc003yzo.1_Silent_p.P417P	p.P417P	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		11	1258	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		417			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	c.1251C>T	CCDS6411.1																																																																																				0.667	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		5	22	0	0	0	0	5	22				
NANS	54187	broad.mit.edu	37	9	100843365	100843365	+	Splice_Site	SNP	G	G	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr9:100843365G>T	ENST00000210444.5	+	5	940		c.e5+1		TRIM14_ENST00000375098.3_Intron|NANS_ENST00000461452.1_Splice_Site|TRIM14_ENST00000478530.1_5'UTR	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase						lipopolysaccharide biosynthetic process (GO:0009103)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	N-acetylneuraminate synthase activity (GO:0050462)|N-acylneuraminate cytidylyltransferase activity (GO:0008781)|N-acylneuraminate-9-phosphate synthase activity (GO:0047444)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				CAATGAGAAGGTGTGTCCTGC	0.622																																						uc004ayb.2		NA																	0				skin(1)	1						c.e6+1		N-acetylneuraminic acid phosphate synthase							89.0	85.0	86.0					9																	100843365		2203	4300	6503	SO:0001630	splice_region_variant	54187				lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity	g.chr9:100843365G>T	AF161387	CCDS6733.1	9p24.1-p23	2008-07-31	2008-07-31		ENSG00000095380	ENSG00000095380			19237	protein-coding gene	gene with protein product	"""sialic acid synthase"""	605202				10749855	Standard	NM_018946		Approved	SAS	uc004ayc.3	Q9NR45	OTTHUMG00000020341	ENST00000210444.5:c.870+1G>T	9.37:g.100843365G>T						NANS_uc004ayc.2_Splice_Site_p.K290_splice|TRIM14_uc004ayd.2_Intron|NANS_uc004aye.1_Missense_Mutation_p.V139L|TRIM14_uc004ayf.1_3'UTR	p.K290_splice	NM_018946	NP_061819	Q9NR45	SIAS_HUMAN			6	1512	+		Acute lymphoblastic leukemia(62;0.0559)						B2RE98|Q8WUV9|Q9BWS6|Q9NVD4	Splice_Site	SNP	ENST00000210444.5	37	c.870_splice	CCDS6733.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.57|16.57	3.160711|3.160711	0.57368|0.57368	.|.	.|.	ENSG00000095380|ENSG00000095380	ENST00000210444|ENST00000427646	.|.	.|.	.|.	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	.|.	.|.	.|.	.|.	.|T	.|0.49253	.|0.1546	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	.|T	.|0.38308	.|-0.9667	.|6	.|.	.|.	.|.	.|.	16.3656|16.3656	0.83319|0.83319	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|127	.|E9PGK0	.|.	.|L	-1|99	.|.	.|.	.|V	+|+	.|1	.|0	NANS|NANS	99883186|99883186	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.596000|0.596000	0.36781|0.36781	9.410000|9.410000	0.97335|0.97335	2.659000|2.659000	0.90383|0.90383	0.555000|0.555000	0.69702|0.69702	.|GTG		0.622	NANS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053359.1	NM_018946	Intron	13	31	1	0	1.36e-13	1.58e-13	13	31				
LRRC8A	56262	broad.mit.edu	37	9	131670491	131670491	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr9:131670491A>C	ENST00000259324.5	+	3	1571	c.1048A>C	c.(1048-1050)Aag>Cag	p.K350Q	LRRC8A_ENST00000372599.3_Missense_Mutation_p.K350Q|LRRC8A_ENST00000372600.4_Missense_Mutation_p.K350Q	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	350					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CTCCCTCAAGAAGTACTCGTT	0.522																																						uc004bwl.3		NA																	0					0						c.(1048-1050)AAG>CAG		leucine rich repeat containing 8 family, member							150.0	117.0	128.0					9																	131670491		2203	4300	6503	SO:0001583	missense	56262				pre-B cell differentiation	integral to membrane		g.chr9:131670491A>C	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1048A>C	9.37:g.131670491A>C	ENSP00000259324:p.Lys350Gln					LRRC8A_uc010myp.2_Missense_Mutation_p.K350Q|LRRC8A_uc010myq.2_Missense_Mutation_p.K350Q	p.K350Q	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN			3	1302	+			350					Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	c.1048A>C	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	A	4.477	0.088462	0.08583	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.48522	0.81;0.81;0.81	5.38	5.38	0.77491	.	0.102236	0.64402	D	0.000004	T	0.15869	0.0382	N	0.00368	-1.59	0.39541	D	0.968825	B	0.11235	0.004	B	0.08055	0.003	T	0.22906	-1.0203	10	0.12430	T	0.62	.	14.5712	0.68213	1.0:0.0:0.0:0.0	.	350	Q8IWT6	LRC8A_HUMAN	Q	350	ENSP00000361682:K350Q;ENSP00000361680:K350Q;ENSP00000259324:K350Q	ENSP00000259324:K350Q	K	+	1	0	LRRC8A	130710312	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.829000	0.69316	2.043000	0.60533	0.379000	0.24179	AAG		0.522	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		6	38	0	0	0	0	6	38				
NOTCH1	4851	broad.mit.edu	37	9	139412327	139412327	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr9:139412327A>G	ENST00000277541.6	-	8	1393	c.1318T>C	c.(1318-1320)Tgt>Cgt	p.C440R	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	440	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCCTGCAGACACTGGCACTCG	0.657			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(1318-1320)TGT>CGT		notch1 preproprotein							47.0	54.0	52.0					9																	139412327		2189	4281	6470	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412327A>G	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1318T>C	9.37:g.139412327A>G	ENSP00000277541:p.Cys440Arg	HNSCC(8;0.001)					p.C440R	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1318	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	440			Extracellular (Potential).|EGF-like 11; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1318T>C	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.900758	0.72754	.	.	ENSG00000148400	ENST00000277541	D	0.99933	-8.27	4.57	4.57	0.56435	EGF-like region, conserved site (2);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99961	0.9984	H	0.99825	4.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96232	0.9169	10	0.87932	D	0	.	13.105	0.59241	1.0:0.0:0.0:0.0	.	440	P46531	NOTC1_HUMAN	R	440	ENSP00000277541:C440R	ENSP00000277541:C440R	C	-	1	0	NOTCH1	138532148	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.673000	0.91186	1.696000	0.51158	0.379000	0.24179	TGT		0.657	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		9	29	0	0	0	0	9	29				
ARSF	416	broad.mit.edu	37	X	2998964	2998964	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chrX:2998964C>T	ENST00000381127.1	+	5	537	c.316C>T	c.(316-318)Caa>Taa	p.Q106*	ARSF_ENST00000359361.2_Nonsense_Mutation_p.Q106*|ARSF_ENST00000537104.1_Nonsense_Mutation_p.Q106*	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	106					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACGTGTCATCCAAAATCTTGC	0.438																																						uc004cre.1		NA																	0				ovary(2)	2						c.(316-318)CAA>TAA		arylsulfatase F precursor							95.0	77.0	83.0					X																	2998964		2203	4300	6503	SO:0001587	stop_gained	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:2998964C>T	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.316C>T	X.37:g.2998964C>T	ENSP00000370519:p.Gln106*					ARSF_uc004crf.1_Nonsense_Mutation_p.Q106*	p.Q106*	NM_004042	NP_004033	P54793	ARSF_HUMAN			5	537	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	106					Q8TCC5	Nonsense_Mutation	SNP	ENST00000381127.1	37	c.316C>T	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.128920	0.37533	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	.	.	.	3.38	-6.77	0.01727	.	16.395400	0.00589	U	0.000356	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	1.714	0.02898	0.4958:0.1431:0.1393:0.2218	.	.	.	.	X	106	.	ENSP00000352319:Q106X	Q	+	1	0	ARSF	3008964	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.393000	0.01055	-6.437000	0.00004	-2.939000	0.00087	CAA		0.438	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			21	12	0	0	0	0	21	12				
PRKX	5613	broad.mit.edu	37	X	3573309	3573309	+	Silent	SNP	G	G	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chrX:3573309G>A	ENST00000262848.5	-	3	834	c.480C>T	c.(478-480)atC>atT	p.I160I	PRKX_ENST00000425240.1_5'UTR	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	160	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial tube morphogenesis (GO:0060562)|kidney morphogenesis (GO:0060993)|myeloid cell differentiation (GO:0030099)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of epithelial cell differentiation involved in kidney development (GO:2000696)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				GCAGGTACTCGATGGCACAGA	0.577																																						uc010nde.2		NA																	0				skin(2)|lung(1)	3						c.(478-480)ATC>ATT		protein kinase, X-linked							125.0	106.0	112.0					X																	3573309		2203	4300	6503	SO:0001819	synonymous_variant	5613						ATP binding|cAMP-dependent protein kinase activity	g.chrX:3573309G>A		CCDS14125.1	Xp22.3	2008-08-01			ENSG00000183943	ENSG00000183943	2.7.11.1		9441	protein-coding gene	gene with protein product		300083				7633447	Standard	NM_005044		Approved	PKX1	uc010nde.3	P51817	OTTHUMG00000021087	ENST00000262848.5:c.480C>T	X.37:g.3573309G>A							p.I160I	NM_005044	NP_005035	P51817	PRKX_HUMAN			3	847	-		all_lung(23;0.000396)|Lung NSC(23;0.00123)	160			Protein kinase.			Silent	SNP	ENST00000262848.5	37	c.480C>T	CCDS14125.1																																																																																				0.577	PRKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055659.1	NM_005044		35	49	0	0	0	0	35	49				
CTPS2	56474	broad.mit.edu	37	X	16635319	16635319	+	Silent	SNP	T	T	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chrX:16635319T>C	ENST00000443824.1	-	16	2243	c.1500A>G	c.(1498-1500)gtA>gtG	p.V500V	CTPS2_ENST00000359276.4_Silent_p.V500V|CTPS2_ENST00000380241.3_Silent_p.V500V	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	500	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					CATCCTGACCTACAAAACTTA	0.398																																						uc004cxk.2		NA																	0				ovary(1)	1						c.(1498-1500)GTA>GTG		cytidine triphosphate synthase II							187.0	168.0	175.0					X																	16635319		2203	4300	6503	SO:0001819	synonymous_variant	56474				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity	g.chrX:16635319T>C	AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"""CTP synthase II"""			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.1500A>G	X.37:g.16635319T>C						CTPS2_uc004cxl.2_Silent_p.V500V|CTPS2_uc004cxm.2_Silent_p.V500V	p.V500V	NM_001144002	NP_001137474	Q9NRF8	PYRG2_HUMAN			16	2244	-	Hepatocellular(33;0.0997)		500			Glutamine amidotransferase type-1.		B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Silent	SNP	ENST00000443824.1	37	c.1500A>G	CCDS14175.1																																																																																				0.398	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	NM_019857		3	114	0	0	0	0	3	114				
MAP7D2	256714	broad.mit.edu	37	X	20082895	20082895	+	Silent	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chrX:20082895C>T	ENST00000379651.3	-	2	177	c.159G>A	c.(157-159)gaG>gaA	p.E53E	MAP7D2_ENST00000443379.3_Silent_p.E53E|MAP7D2_ENST00000452324.3_Silent_p.E9E|MAP7D2_ENST00000379643.5_Silent_p.E53E	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	53					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						ATCTCTGCCTCTCATCTGATT	0.408																																						uc004czr.1		NA																	0				ovary(2)|breast(1)	3						c.(157-159)GAG>GAA		MAP7 domain containing 2							213.0	161.0	178.0					X																	20082895		2203	4300	6503	SO:0001819	synonymous_variant	256714							g.chrX:20082895C>T	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.159G>A	X.37:g.20082895C>T						MAP7D2_uc011mji.1_Silent_p.E9E|MAP7D2_uc010nfo.1_Silent_p.E53E|MAP7D2_uc011mjj.1_Silent_p.E53E|MAP7D2_uc004czs.1_Silent_p.E9E	p.E53E	NM_152780	NP_689993	Q96T17	MA7D2_HUMAN			2	178	-			53			Potential.		B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Silent	SNP	ENST00000379651.3	37	c.159G>A	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	C	8.359	0.832651	0.16820	.	.	ENSG00000184368	ENST00000544957	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	T	0.57917	0.2086	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56884	-0.7905	4	.	.	.	-17.0207	7.6419	0.28298	0.0:0.8143:0.0:0.1857	.	.	.	.	K	2	.	.	R	-	2	0	MAP7D2	19992816	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	0.677000	0.25262	2.330000	0.79161	0.594000	0.82650	AGA		0.408	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		8	20	0	0	0	0	8	20				
BCOR	54880	broad.mit.edu	37	X	39934150	39934150	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chrX:39934150T>C	ENST00000378444.4	-	4	677	c.449A>G	c.(448-450)aAa>aGa	p.K150R	BCOR_ENST00000342274.4_Missense_Mutation_p.K150R|BCOR_ENST00000397354.3_Missense_Mutation_p.K150R|BCOR_ENST00000378455.4_Missense_Mutation_p.K150R	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	150					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						AGGCGGTGTTTTGTATATAGC	0.507			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															uc004den.3		NA		Rec	yes		X	Xp11.4	54880		BCL6 corepressor	yes							0				ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(448-450)AAA>AGA		BCL-6 interacting corepressor isoform c							65.0	64.0	64.0					X																	39934150		2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39934150T>C	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.449A>G	X.37:g.39934150T>C	ENSP00000367705:p.Lys150Arg					BCOR_uc004dep.3_Missense_Mutation_p.K150R|BCOR_uc004deo.3_Missense_Mutation_p.K150R|BCOR_uc004dem.3_Missense_Mutation_p.K150R|BCOR_uc004deq.3_Missense_Mutation_p.K150R	p.K150R	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			4	741	-			150					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.449A>G	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	T	19.84	3.901918	0.72754	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	5.47	5.47	0.80525	.	.	.	.	.	T	0.74061	0.3667	L	0.32530	0.975	0.50632	D	0.999885	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.991;0.996	T	0.77335	-0.2626	9	0.87932	D	0	-19.0198	14.5759	0.68246	0.0:0.0:0.0:1.0	.	150;150;150;150	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	R	150	ENSP00000367716:K150R;ENSP00000380512:K150R;ENSP00000367705:K150R;ENSP00000345923:K150R;ENSP00000384485:K150R	ENSP00000345923:K150R	K	-	2	0	BCOR	39819094	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.690000	0.84178	1.822000	0.53115	0.486000	0.48141	AAA		0.507	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		27	33	0	0	0	0	27	33				
PCDH11X	27328	broad.mit.edu	37	X	91090676	91090676	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chrX:91090676C>A	ENST00000373094.1	+	1	1018	c.173C>A	c.(172-174)aCa>aAa	p.T58K	PCDH11X_ENST00000298274.8_Missense_Mutation_p.T58K|PCDH11X_ENST00000395337.2_Missense_Mutation_p.T58K|PCDH11X_ENST00000406881.1_Missense_Mutation_p.T58K|PCDH11X_ENST00000361724.1_Missense_Mutation_p.T58K|PCDH11X_ENST00000504220.2_Missense_Mutation_p.T58K|PCDH11X_ENST00000373088.1_Missense_Mutation_p.T58K|PCDH11X_ENST00000373097.1_Missense_Mutation_p.T58K|PCDH11X_ENST00000361655.2_Missense_Mutation_p.T58K	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	58	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AAGTCCTTGACAACTGCTATG	0.453																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	0				large_intestine(2)	2						c.(172-174)ACA>AAA		protocadherin 11 X-linked isoform c							194.0	148.0	163.0					X																	91090676		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090676C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.173C>A	X.37:g.91090676C>A	ENSP00000362186:p.Thr58Lys					PCDH11X_uc004efl.1_Missense_Mutation_p.T58K|PCDH11X_uc004efo.1_Missense_Mutation_p.T58K|PCDH11X_uc010nmv.1_Missense_Mutation_p.T58K|PCDH11X_uc004efm.1_Missense_Mutation_p.T58K|PCDH11X_uc004efn.1_Missense_Mutation_p.T58K|PCDH11X_uc004efh.1_Missense_Mutation_p.T58K|PCDH11X_uc004efj.1_Missense_Mutation_p.T58K	p.T58K	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			1	1018	+			58			Extracellular (Potential).|Cadherin 1.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.173C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	5.495	0.276392	0.10403	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74	3.93	3.06	0.35304	Cadherin, N-terminal (1);Cadherin (2);	0.136972	0.50627	D	0.000116	T	0.15435	0.0372	N	0.12182	0.205	0.26493	N	0.974914	B;B;B;B;B;B;B;B	0.14438	0.002;0.0;0.008;0.008;0.008;0.01;0.001;0.001	B;B;B;B;B;B;B;B	0.20955	0.011;0.001;0.011;0.011;0.011;0.032;0.007;0.007	T	0.21348	-1.0248	10	0.87932	D	0	.	11.486	0.50354	0.1808:0.8192:0.0:0.0	.	58;58;58;58;58;58;58;58	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	K	58	ENSP00000378746:T58K;ENSP00000362186:T58K;ENSP00000362189:T58K;ENSP00000355040:T58K;ENSP00000362180:T58K;ENSP00000423762:T58K;ENSP00000355105:T58K;ENSP00000384758:T58K;ENSP00000298274:T58K	ENSP00000298274:T58K	T	+	2	0	PCDH11X	90977332	0.998000	0.40836	0.254000	0.24359	0.017000	0.09413	4.204000	0.58460	0.788000	0.33755	-0.556000	0.04195	ACA		0.453	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		36	68	1	0	9.04e-19	1.07e-18	36	68				
CT55	54967	broad.mit.edu	37	X	134305034	134305034	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chrX:134305034C>T	ENST00000276241.6	-	1	288	c.62G>A	c.(61-63)cGa>cAa	p.R21Q	CXorf48_ENST00000344129.2_Missense_Mutation_p.R21Q	NM_001031705.2	NP_001026875.1	Q8WUE5	CT55_HUMAN		21										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					TGGGCCCTGTCGCTCTGCAGG	0.642																																						uc004eyk.1		NA																	0					0						c.(61-63)CGA>CAA		hypothetical protein LOC54967 isoform 1							105.0	89.0	94.0					X																	134305034		2203	4300	6503	SO:0001583	missense	54967							g.chrX:134305034C>T																												ENST00000276241.6:c.62G>A	X.37:g.134305034C>T	ENSP00000276241:p.Arg21Gln					CXorf48_uc004eyl.1_Missense_Mutation_p.R21Q	p.R21Q	NM_001031705	NP_001026875	Q8WUE5	CX048_HUMAN			1	718	-	Acute lymphoblastic leukemia(192;0.000127)		21					Q9NWY8	Missense_Mutation	SNP	ENST00000276241.6	37	c.62G>A	CCDS35400.1	.	.	.	.	.	.	.	.	.	.	C	3.835	-0.034919	0.07543	.	.	ENSG00000169551	ENST00000276241;ENST00000344129	T;T	0.22539	1.95;1.97	1.59	-3.09	0.05331	.	.	.	.	.	T	0.07863	0.0197	N	0.08118	0	0.09310	N	1	B	0.19073	0.033	B	0.01281	0.0	T	0.31024	-0.9958	9	0.25751	T	0.34	3.1389	3.9554	0.09387	0.0:0.2395:0.4289:0.3316	.	21	Q8WUE5	CX048_HUMAN	Q	21	ENSP00000276241:R21Q;ENSP00000343893:R21Q	ENSP00000276241:R21Q	R	-	2	0	CXorf48	134132700	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.206000	0.09398	-1.309000	0.02315	-0.996000	0.02517	CGA		0.642	CXorf48-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058404.1			19	55	0	0	0	0	19	55				
NOTCH2	4853	broad.mit.edu	37	1	120539889	120539893	+	Frame_Shift_Del	DEL	GTGGT	GTGGT	-			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:120539889_120539893delGTGGT	ENST00000256646.2	-	4	697_701	c.478_482delACCAC	c.(478-483)accactfs	p.TT160fs	NOTCH2_ENST00000602566.1_Frame_Shift_Del_p.TT121fs	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	160	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTGGCCACAGTGGTACAGGTACTT	0.502			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2		NA		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		0				lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(478-483)ACCACTfs		notch 2 preproprotein																																				SO:0001589	frameshift_variant	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120539889_120539893delGTGGT	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.478_482delACCAC	1.37:g.120539889_120539893delGTGGT	ENSP00000256646:p.Thr160fs					NOTCH2_uc001eil.2_Frame_Shift_Del_p.T160fs|NOTCH2_uc001eim.3_Frame_Shift_Del_p.T77fs	p.T160fs	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	734_738	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	160_161			Extracellular (Potential).|EGF-like 4.		Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.478_482delACCAC	CCDS908.1																																																																																				0.502	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		13	119	NA	NA	NA	NA	13	119	---	---	---	---
RPTN	126638	broad.mit.edu	37	1	152128025	152128028	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr1:152128025_152128028delTGTC	ENST00000316073.3	-	3	1611_1614	c.1547_1550delGACA	c.(1546-1551)agacaafs	p.RQ516fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	516	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.5																																						uc001ezs.1		NA																	0					0						c.(1546-1551)AGACAAfs		repetin																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128025_152128028delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1547_1550delGACA	1.37:g.152128033_152128036delTGTC	ENSP00000317895:p.Arg516fs						p.R516fs	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			3	1612_1615	-			516_517			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1547_1550delGACA	CCDS41397.1																																																																																				0.500	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		8	1252	NA	NA	NA	NA	8	1252	---	---	---	---
ENO3	2027	broad.mit.edu	37	17	4856404	4856404	+	Splice_Site	DEL	G	G	-			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr17:4856404delG	ENST00000323997.6	+	4	372	c.240delG	c.(238-240)aag>aa	p.K81fs	ENO3_ENST00000519584.1_Intron|ENO3_ENST00000518175.1_Splice_Site_p.K81fs	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	81					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						TGCTGCAAAAGGCAAGTGGGG	0.577																																						uc002gab.3		NA																	0				ovary(1)	1						c.(238-240)AAGfs		enolase 3							75.0	73.0	74.0					17																	4856404		2203	4300	6503	SO:0001630	splice_region_variant	2027				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity	g.chr17:4856404delG	X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"""enolase 3, (beta, muscle)"""				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.240+1G>-	17.37:g.4856404delG						ENO3_uc010vsr.1_5'UTR|ENO3_uc002gac.3_Frame_Shift_Del_p.K80fs|ENO3_uc010vss.1_Intron|ENO3_uc010vst.1_5'Flank	p.K80fs	NM_053013	NP_443739	P13929	ENOB_HUMAN			4	334	+			80					B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Frame_Shift_Del	DEL	ENST00000323997.6	37	c.240delG	CCDS11062.1																																																																																				0.577	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216851.2		Frame_Shift_Del	18	58	NA	NA	NA	NA	18	58	---	---	---	---
ASXL1	171023	broad.mit.edu	37	20	31021696	31021696	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DQ-5631-01A-01D-1870-08	TCGA-DQ-5631-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e389975a-e588-48d4-9ed3-548e8ed9de1c	c919d822-b6c9-48d0-b570-0b7b127592f4	g.chr20:31021696delG	ENST00000375687.4	+	12	2119	c.1695delG	c.(1693-1695)gagfs	p.E566fs	ASXL1_ENST00000306058.5_Frame_Shift_Del_p.E561fs	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	566	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CCACTAAAGAGGAGCCCAAAG	0.512			"""F, N, Mis"""		"""MDS, CMML"""																																	uc002wxs.2		NA		Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		0				haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(1693-1695)GAGfs		additional sex combs like 1 isoform 1							55.0	61.0	59.0					20																	31021696		2203	4300	6503	SO:0001589	frameshift_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31021696delG	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1695delG	20.37:g.31021696delG	ENSP00000364839:p.Glu566fs					ASXL1_uc010geb.2_Frame_Shift_Del_p.E456fs	p.E565fs	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			11	2121	+			565					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Frame_Shift_Del	DEL	ENST00000375687.4	37	c.1695delG	CCDS13201.1																																																																																				0.512	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		31	121	NA	NA	NA	NA	31	121	---	---	---	---
