#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	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
FDFT1	2222	broad.mit.edu	37	8	11679320	11679320	+	Missense_Mutation	SNP	G	G	A	rs201022112		TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr8:11679320G>A	ENST00000220584.4	+	4	665	c.443G>A	c.(442-444)cGg>cAg	p.R148Q	FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000538689.1_Missense_Mutation_p.R37Q|FDFT1_ENST00000525777.1_Missense_Mutation_p.R63Q|FDFT1_ENST00000525900.1_Missense_Mutation_p.R141Q|FDFT1_ENST00000528812.1_Missense_Mutation_p.R84Q|FDFT1_ENST00000443614.2_Intron|FDFT1_ENST00000530664.1_Missense_Mutation_p.R84Q|FDFT1_ENST00000528643.1_Missense_Mutation_p.R63Q	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	148					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		GACATTTGCCGGAGAATGGGC	0.423																																						ENST00000220584.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12						c.(442-444)cGg>cAg		farnesyl-diphosphate farnesyltransferase 1		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	209.0	194.0	199.0		443	-2.2	0.1	8		199	0,8600		0,0,4300	no	missense	FDFT1	NM_004462.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	148/418	11679320	1,13005	2203	4300	6503	SO:0001583	missense	2222				cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity	g.chr8:11679320G>A	X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"""squalene synthase"""	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.443G>A	8.37:g.11679320G>A	ENSP00000220584:p.Arg148Gln					FDFT1_ENST00000525777.1_Missense_Mutation_p.R63Q|FDFT1_ENST00000538689.1_Missense_Mutation_p.R37Q|FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000443614.2_Intron|FDFT1_ENST00000528812.1_Missense_Mutation_p.R84Q|FDFT1_ENST00000528643.1_Missense_Mutation_p.R63Q|FDFT1_ENST00000525900.1_Missense_Mutation_p.R141Q|FDFT1_ENST00000530664.1_Missense_Mutation_p.R84Q	p.R148Q	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)	4	665	+	all_epithelial(15;0.234)		148					B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Missense_Mutation	SNP	ENST00000220584.4	37	c.443G>A	CCDS5985.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138124	0.37728	2.27E-4	0.0	ENSG00000079459	ENST00000538689;ENST00000530337;ENST00000220584;ENST00000525900;ENST00000528812;ENST00000530664;ENST00000528643;ENST00000525777	D;T;D;D;D;D;D;D	0.82344	-1.6;-0.66;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	5.17	-2.17	0.07059	Terpenoid synthase (2);	0.483876	0.22708	N	0.056611	T	0.71367	0.3331	L	0.42529	1.33	0.23120	N	0.998267	B;B;B	0.28971	0.229;0.008;0.008	B;B;B	0.09377	0.004;0.002;0.002	T	0.57608	-0.7782	10	0.42905	T	0.14	-8.8619	11.9048	0.52705	0.6676:0.0:0.3324:0.0	.	205;141;148	B4DND3;E9PNM1;P37268	.;.;FDFT_HUMAN	Q	37;148;148;141;84;84;63;63	ENSP00000444248:R37Q;ENSP00000431852:R148Q;ENSP00000220584:R148Q;ENSP00000434714:R141Q;ENSP00000431749:R84Q;ENSP00000432331:R84Q;ENSP00000431649:R63Q;ENSP00000436069:R63Q	ENSP00000220584:R148Q	R	+	2	0	FDFT1	11716729	1.000000	0.71417	0.114000	0.21550	0.628000	0.37860	1.297000	0.33400	-0.550000	0.06183	-1.134000	0.01955	CGG		0.423	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207588.2			4	200	0	0	0	0.009096	0	4	200				
EPHA2	1969	broad.mit.edu	37	1	16464404	16464404	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:16464404G>C	ENST00000358432.5	-	5	1410	c.1256C>G	c.(1255-1257)tCa>tGa	p.S419*		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	419	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	TACCAGGCCTGAGACGCCATT	0.637																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1255-1257)tCa>tGa		EPH receptor A2	Dasatinib(DB01254)						54.0	55.0	55.0					1																	16464404		2203	4300	6503	SO:0001587	stop_gained	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16464404G>C	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1256C>G	1.37:g.16464404G>C	ENSP00000351209:p.Ser419*						p.S419*	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	5	1410	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	419			Fibronectin type-III 1.		B5A968|Q8N3Z2	Nonsense_Mutation	SNP	ENST00000358432.5	37	c.1256C>G	CCDS169.1	.	.	.	.	.	.	.	.	.	.	G	37	6.427317	0.97559	.	.	ENSG00000142627	ENST00000358432	.	.	.	4.97	4.97	0.65823	.	0.139643	0.32703	N	0.005759	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.1088	0.81244	0.0:0.0:1.0:0.0	.	.	.	.	X	419	.	ENSP00000351209:S419X	S	-	2	0	EPHA2	16336991	1.000000	0.71417	0.996000	0.52242	0.536000	0.34869	9.869000	0.99810	2.488000	0.83962	0.561000	0.74099	TCA		0.637	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		38	36	0	0	0	0.023175	0	38	36				
FAM84A	151354	broad.mit.edu	37	2	14774194	14774194	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:14774194G>A	ENST00000295092.2	+	2	379	c.91G>A	c.(91-93)Gtc>Atc	p.V31I	FAM84A_ENST00000331243.4_Missense_Mutation_p.V31I|AC011897.1_ENST00000581929.1_5'Flank	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	31										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			CGAACTGCGGGTCGGGGTTGC	0.617																																						ENST00000295092.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(91-93)Gtc>Atc		family with sequence similarity 84, member A							33.0	37.0	36.0					2																	14774194		2203	4300	6503	SO:0001583	missense	151354							g.chr2:14774194G>A	AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981			20743	protein-coding gene	gene with protein product	"""neurological/sensory 1"""	611234				14702039	Standard	NM_145175		Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.91G>A	2.37:g.14774194G>A	ENSP00000295092:p.Val31Ile					FAM84A_ENST00000331243.4_Missense_Mutation_p.V31I	p.V31I	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	GBM - Glioblastoma multiforme(1;0.00969)		2	379	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		31					A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	Missense_Mutation	SNP	ENST00000295092.2	37	c.91G>A	CCDS1684.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792925	0.31685	.	.	ENSG00000162981	ENST00000295092;ENST00000331243;ENST00000359969	T;T	0.03801	3.8;3.8	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.07007	0.0178	N	0.08118	0	0.58432	D	0.999998	D	0.58970	0.984	D	0.67548	0.952	T	0.33929	-0.9849	10	0.02654	T	1	-27.0943	17.3365	0.87282	0.0:0.0:1.0:0.0	.	31	Q96KN4	FA84A_HUMAN	I	31	ENSP00000295092:V31I;ENSP00000330681:V31I	ENSP00000295092:V31I	V	+	1	0	FAM84A	14691645	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.893000	0.63199	2.369000	0.80426	0.655000	0.94253	GTC		0.617	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239308.2	NM_145175		3	56	0	0	0	0.004672	0	3	56				
PRL	5617	broad.mit.edu	37	6	22294711	22294711	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr6:22294711C>T	ENST00000306482.1	-	2	649	c.131G>A	c.(130-132)cGa>cAa	p.R44Q	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	44					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					AAACAGGTCTCGAAGGGTCAC	0.602																																						ENST00000306482.1																			0				NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16						c.(130-132)cGa>cAa		prolactin							73.0	67.0	69.0					6																	22294711		2203	4300	6503	SO:0001583	missense	5617				cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding	g.chr6:22294711C>T	D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.131G>A	6.37:g.22294711C>T	ENSP00000302150:p.Arg44Gln					RP3-404K8.2_ENST00000561912.1_RNA	p.R44Q	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN			2	649	-	Ovarian(93;0.163)		44					Q15199|Q92996	Missense_Mutation	SNP	ENST00000306482.1	37	c.131G>A	CCDS4548.1	.	.	.	.	.	.	.	.	.	.	C	7.627	0.678025	0.14841	.	.	ENSG00000172179	ENST00000306482	D	0.88201	-2.35	5.85	-1.55	0.08558	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.181070	0.05897	N	0.629333	T	0.61924	0.2386	N	0.25332	0.735	0.09310	N	1	B;B	0.21071	0.008;0.051	B;B	0.22152	0.023;0.038	T	0.51718	-0.8670	10	0.13108	T	0.6	0.1531	6.9956	0.24780	0.0:0.4306:0.2853:0.2842	.	44;45	P01236;Q5I0G2	PRL_HUMAN;.	Q	44	ENSP00000302150:R44Q	ENSP00000302150:R44Q	R	-	2	0	PRL	22402690	0.000000	0.05858	0.000000	0.03702	0.679000	0.39708	0.059000	0.14322	-0.686000	0.05170	-0.251000	0.11542	CGA		0.602	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	NM_000948		12	33	0	0	0	0.010729	0	12	33				
PIK3C2G	5288	broad.mit.edu	37	12	18473914	18473914	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:18473914C>G	ENST00000266497.5	+	6	1194	c.1156C>G	c.(1156-1158)Cag>Gag	p.Q386E	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.Q386E|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.Q386E|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.Q386E|RERGL_ENST00000541632.1_5'Flank			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	386					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GGACCACAGTCAGTTTTATCT	0.333																																						ENST00000433979.1																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(1156-1158)Cag>Gag		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma							49.0	47.0	48.0					12																	18473914		1806	4063	5869	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18473914C>G	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.1156C>G	12.37:g.18473914C>G	ENSP00000266497:p.Gln386Glu					PIK3C2G_ENST00000535651.1_Missense_Mutation_p.Q386E|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.Q386E|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.Q386E	p.Q386E	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN			7	1272	+		Hepatocellular(102;0.194)	386					A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.1156C>G	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	C	3.408	-0.120717	0.06838	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.59772	1.6;0.24;0.24;0.26	4.57	3.66	0.41972	.	0.998527	0.08105	N	0.997040	T	0.47857	0.1468	L	0.51422	1.61	0.23150	N	0.998218	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.42085	-0.9472	10	0.05721	T	0.95	0.9704	10.0002	0.41924	0.2012:0.7987:0.0:0.0	.	385;386;386	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	E	386	ENSP00000443850:Q386E;ENSP00000404845:Q386E;ENSP00000266497:Q386E;ENSP00000445381:Q386E	ENSP00000266497:Q386E	Q	+	1	0	PIK3C2G	18365181	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	1.544000	0.36158	1.485000	0.48380	0.650000	0.86243	CAG		0.333	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		6	34	0	0	0	0.003080	0	6	34				
MED13L	23389	broad.mit.edu	37	12	116457051	116457051	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:116457051G>A	ENST00000281928.3	-	7	1193	c.987C>T	c.(985-987)acC>acT	p.T329T		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	329						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GTTCTGGAGAGGTGGGAGGGG	0.542																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(985-987)acC>acT		mediator complex subunit 13-like							87.0	73.0	78.0					12																	116457051		2203	4300	6503	SO:0001819	synonymous_variant	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116457051G>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.987C>T	12.37:g.116457051G>A							p.T329T	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	7	1193	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		329					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	ENST00000281928.3	37	c.987C>T	CCDS9177.1																																																																																				0.542	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			16	84	0	0	0	0.024245	0	16	84				
TM9SF3	56889	broad.mit.edu	37	10	98312702	98312702	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr10:98312702C>T	ENST00000371142.4	-	6	991	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	TM9SF3_ENST00000490192.1_5'Flank	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	259						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TCCATTTCTTCCTCTTTACTG	0.313																																						ENST00000371142.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15						c.(775-777)Gaa>Aaa		transmembrane 9 superfamily member 3							115.0	108.0	110.0					10																	98312702		2202	4300	6502	SO:0001583	missense	56889					integral to membrane	binding	g.chr10:98312702C>T	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.775G>A	10.37:g.98312702C>T	ENSP00000360184:p.Glu259Lys						p.E259K	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	6	991	-		Colorectal(252;0.158)	259					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Missense_Mutation	SNP	ENST00000371142.4	37	c.775G>A	CCDS7450.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088139	0.76642	.	.	ENSG00000077147	ENST00000371142;ENST00000443638	T;T	0.43294	0.95;0.95	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.59622	0.2207	M	0.88512	2.96	0.80722	D	1	B;P	0.48998	0.122;0.918	B;P	0.46940	0.043;0.532	T	0.70410	-0.4879	10	0.72032	D	0.01	-17.7504	17.9926	0.89172	0.0:1.0:0.0:0.0	.	191;259	Q8WUB5;Q9HD45	.;TM9S3_HUMAN	K	259;215	ENSP00000360184:E259K;ENSP00000401152:E215K	ENSP00000360184:E259K	E	-	1	0	TM9SF3	98302692	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.783000	0.85696	2.487000	0.83934	0.585000	0.79938	GAA		0.313	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		16	45	0	0	0	0.004990	0	16	45				
GCK	2645	broad.mit.edu	37	7	44185251	44185251	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr7:44185251G>A	ENST00000403799.3	-	9	1567	c.1098C>T	c.(1096-1098)atC>atT	p.I366I	GCK_ENST00000395796.3_Silent_p.I365I|GCK_ENST00000437084.1_Silent_p.I349I|GCK_ENST00000345378.2_Silent_p.I367I	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	366	Hexokinase type-2.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CGCGGCGCACGATGTCGCAGT	0.706																																						ENST00000403799.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						c.(1096-1098)atC>atT		glucokinase (hexokinase 4)							28.0	31.0	30.0					7																	44185251		2202	4298	6500	SO:0001819	synonymous_variant	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44185251G>A	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.1098C>T	7.37:g.44185251G>A						GCK_ENST00000437084.1_Silent_p.I349I|GCK_ENST00000345378.2_Silent_p.I367I|GCK_ENST00000395796.3_Silent_p.I365I	p.I366I	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN			9	1567	-			366					A4D2J2|A4D2J3|Q05810	Silent	SNP	ENST00000403799.3	37	c.1098C>T	CCDS5479.1																																																																																				0.706	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			7	23	0	0	0	0.003080	0	7	23				
BCO1	53630	broad.mit.edu	37	16	81295760	81295760	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr16:81295760C>G	ENST00000258168.2	+	4	804	c.343C>G	c.(343-345)Cac>Gac	p.H115D	BCMO1_ENST00000425577.2_Missense_Mutation_p.H46D|BCMO1_ENST00000564552.1_Missense_Mutation_p.H115D	NM_017429.2	NP_059125.2														breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						CTACTTGTCTCACACCATCCC	0.468																																						ENST00000258168.2																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						c.(343-345)Cac>Gac		beta-carotene 15,15'-monooxygenase 1							174.0	165.0	168.0					16																	81295760		2202	4300	6502	SO:0001583	missense	53630				retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity	g.chr16:81295760C>G																												ENST00000258168.2:c.343C>G	16.37:g.81295760C>G	ENSP00000258168:p.His115Asp					BCMO1_ENST00000425577.2_Missense_Mutation_p.H46D|BCMO1_ENST00000564552.1_Missense_Mutation_p.H115D	p.H115D	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN			4	804	+			115						Missense_Mutation	SNP	ENST00000258168.2	37	c.343C>G	CCDS10934.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.842191	0.32513	.	.	ENSG00000135697	ENST00000258168;ENST00000425577	D;D	0.94687	-3.49;-3.12	5.43	4.48	0.54585	.	0.049270	0.85682	D	0.000000	D	0.96278	0.8786	M	0.76838	2.35	0.47994	D	0.99956	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.71656	0.974;0.959;0.974	D	0.95070	0.8203	10	0.12430	T	0.62	-28.9793	13.8576	0.63537	0.0:0.9267:0.0:0.0733	.	46;115;46	E7EM88;Q9HAY6;B4DJC0	.;BCDO1_HUMAN;.	D	115;46	ENSP00000258168:H115D;ENSP00000400586:H46D	ENSP00000258168:H115D	H	+	1	0	BCMO1	79853261	0.977000	0.34250	1.000000	0.80357	0.844000	0.47949	1.306000	0.33505	1.299000	0.44798	0.549000	0.68633	CAC		0.468	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269056.1			67	176	0	0	0	0.014410	0	67	176				
CLSPN	63967	broad.mit.edu	37	1	36228069	36228069	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:36228069G>A	ENST00000318121.3	-	5	815	c.758C>T	c.(757-759)tCt>tTt	p.S253F	CLSPN_ENST00000251195.5_Missense_Mutation_p.S253F|CLSPN_ENST00000520551.1_Missense_Mutation_p.S253F|CLSPN_ENST00000373220.3_Missense_Mutation_p.S253F	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	253					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACTCTCCAAAGATGGTTCTTT	0.398																																						ENST00000251195.5																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(757-759)tCt>tTt		claspin							98.0	93.0	94.0					1																	36228069		2203	4300	6503	SO:0001583	missense	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36228069G>A	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.758C>T	1.37:g.36228069G>A	ENSP00000312995:p.Ser253Phe					CLSPN_ENST00000520551.1_Missense_Mutation_p.S253F|CLSPN_ENST00000373220.3_Missense_Mutation_p.S253F|CLSPN_ENST00000318121.3_Missense_Mutation_p.S253F	p.S253F			Q9HAW4	CLSPN_HUMAN			5	854	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	253					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	c.758C>T	CCDS396.1	.	.	.	.	.	.	.	.	.	.	G	2.213	-0.380236	0.05000	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551;ENST00000544356	T;T;T;T	0.24538	1.85;1.86;1.86;1.86	5.31	0.973	0.19710	.	0.790063	0.11839	N	0.524501	T	0.18257	0.0438	L	0.48362	1.52	0.09310	N	1	B;B	0.29988	0.001;0.264	B;B	0.24701	0.003;0.055	T	0.20672	-1.0268	10	0.44086	T	0.13	0.1874	3.6821	0.08314	0.3741:0.0:0.462:0.1639	.	253;253	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	F	253	ENSP00000251195:S253F;ENSP00000312995:S253F;ENSP00000362317:S253F;ENSP00000428848:S253F	ENSP00000251195:S253F	S	-	2	0	CLSPN	36000656	0.947000	0.32204	0.031000	0.17742	0.003000	0.03518	1.369000	0.34227	0.200000	0.20447	-0.384000	0.06662	TCT		0.398	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		58	59	0	0	0	0.014410	0	58	59				
ZNF844	284391	broad.mit.edu	37	19	12187275	12187275	+	Missense_Mutation	SNP	G	G	C	rs376579156	byFrequency	TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:12187275G>C	ENST00000439326.3	+	4	1515	c.1340G>C	c.(1339-1341)cGt>cCt	p.R447P	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R447P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCGTATGAGTGTA	0.433																																						ENST00000439326.3																			1	Substitution - Missense(1)	p.R447P(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(1339-1341)cGt>cCt		zinc finger protein 844							60.0	54.0	56.0					19																	12187275		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187275G>C	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1340G>C	19.37:g.12187275G>C	ENSP00000392024:p.Arg447Pro					ZNF844_ENST00000441304.2_3'UTR	p.R447P	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN			4	1515	+			447					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1340G>C	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	T	0.637	-0.814748	0.02776	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.03717	3.83	2.88	-3.56	0.04626	.	.	.	.	.	T	0.00524	0.0017	N	0.00049	-2.415	0.51482	D	0.999921	B	0.02656	0.0	B	0.01281	0.0	T	0.45175	-0.9279	9	0.02654	T	1	.	2.6221	0.04919	0.1164:0.4107:0.122:0.3509	.	447	Q08AG5	ZN844_HUMAN	P	447	ENSP00000392024:R447P	ENSP00000392024:R447P	R	+	2	0	ZNF844	12048275	0.000000	0.05858	0.012000	0.15200	0.001000	0.01503	-7.066000	0.00045	-0.984000	0.03507	-4.296000	0.00007	CGT		0.433	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			3	147	0	0	0	0.004672	0	3	147				
DYNC1H1	1778	broad.mit.edu	37	14	102509076	102509076	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr14:102509076G>A	ENST00000360184.4	+	69	12668	c.12504G>A	c.(12502-12504)cgG>cgA	p.R4168R	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4168	AAA 6. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCGTCTCACGGATATGCAAGG	0.577																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(12502-12504)cgG>cgA		dynein, cytoplasmic 1, heavy chain 1							99.0	74.0	82.0					14																	102509076		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102509076G>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.12504G>A	14.37:g.102509076G>A						RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	p.R4168R	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			69	12668	+			4168			AAA 6 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.12504G>A	CCDS9966.1																																																																																				0.577	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		47	45	0	0	0	0.014410	0	47	45				
BRD8	10902	broad.mit.edu	37	5	137486496	137486496	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:137486496C>G	ENST00000254900.5	-	22	3429	c.3058G>C	c.(3058-3060)Gag>Cag	p.E1020Q		NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1020					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GAAGCCACCTCTGGCTTTCCA	0.463																																						ENST00000254900.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35						c.(3058-3060)Gag>Cag		bromodomain containing 8							122.0	128.0	126.0					5																	137486496		2203	4300	6503	SO:0001583	missense	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137486496C>G	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.3058G>C	5.37:g.137486496C>G	ENSP00000254900:p.Glu1020Gln						p.E1020Q	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		22	3429	-			1020					O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	c.3058G>C	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	C	0.269	-0.994341	0.02145	.	.	ENSG00000112983	ENST00000254900;ENST00000427976	T;T	0.30448	1.82;1.53	4.29	1.52	0.23074	.	0.693870	0.13325	N	0.396327	T	0.15176	0.0366	N	0.14661	0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.34601	-0.9822	10	0.14252	T	0.57	.	7.6866	0.28544	0.0:0.6906:0.1386:0.1708	.	1020	Q9H0E9	BRD8_HUMAN	Q	1020;126	ENSP00000254900:E1020Q;ENSP00000392646:E126Q	ENSP00000254900:E1020Q	E	-	1	0	BRD8	137514395	0.899000	0.30636	0.006000	0.13384	0.096000	0.18686	0.930000	0.28858	-0.120000	0.11809	-2.649000	0.00149	GAG		0.463	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		49	154	0	0	0	0.014410	0	49	154				
BPIFA3	128861	broad.mit.edu	37	20	31812910	31812910	+	Silent	SNP	C	C	T	rs140343618	byFrequency	TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr20:31812910C>T	ENST00000375454.3	+	4	603	c.393C>T	c.(391-393)ttC>ttT	p.F131F	BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Silent_p.F95F	NM_178466.3	NP_848561.2	Q9BQP9	BPIA3_HUMAN	BPI fold containing family A, member 3	131						extracellular region (GO:0005576)	lipid binding (GO:0008289)										GCAGGTCCTTCGATAACAACA	0.507													C|||	4	0.000798722	0.003	0.0	5008	,	,		22169	0.0		0.0	False		,,,				2504	0.0					ENST00000375454.3																			0											c.(391-393)ttC>ttT		BPI fold containing family A, member 3		C	,	22,4384	29.9+/-59.1	0,22,2181	136.0	128.0	131.0		285,393	1.6	0.3	20	dbSNP_134	131	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	BPIFA3	NM_001042439.1,NM_178466.3	,	0,22,6481	TT,TC,CC		0.0,0.4993,0.1692	,	95/219,131/255	31812910	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	128861					extracellular region	lipid binding	g.chr20:31812910C>T		CCDS13216.2, CCDS42865.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131059	ENSG00000131059		"""BPI fold containing"""	16204	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 71"""	C20orf71		11971875, 21787333	Standard	XR_244132		Approved	bA49G10.4, SPLUNC3	uc002wyr.3	Q9BQP9	OTTHUMG00000032245	ENST00000375454.3:c.393C>T	20.37:g.31812910C>T						BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Silent_p.F95F	p.F131F	NM_178466.3	NP_848561.2	Q9BQP9	SPLC3_HUMAN			4	603	+			131					Q5JWG8|Q6NZ38	Silent	SNP	ENST00000375454.3	37	c.393C>T	CCDS13216.2																																																																																				0.507	BPIFA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078672.1	NM_178466		28	92	0	0	0	0.006320	0	28	92				
CACNG2	10369	broad.mit.edu	37	22	36960638	36960638	+	Silent	SNP	C	C	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr22:36960638C>A	ENST00000300105.6	-	4	1713	c.732G>T	c.(730-732)acG>acT	p.T244T	RP5-1119A7.17_ENST00000562756.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	244					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GTGAGGGCTCCGTGGAGCGCG	0.697																																						ENST00000300105.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(730-732)acG>acT		calcium channel, voltage-dependent, gamma subunit 2							62.0	71.0	68.0					22																	36960638		2203	4300	6503	SO:0001819	synonymous_variant	10369				membrane depolarization|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|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr22:36960638C>A	AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"""Calcium channel subunits"""	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.732G>T	22.37:g.36960638C>A							p.T244T	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN			4	1713	-			244					Q2M1M1|Q5TGT3|Q9UGZ7	Silent	SNP	ENST00000300105.6	37	c.732G>T	CCDS13931.1																																																																																				0.697	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2			35	101	1	0	9.84934e-19	0.010771	1.08733e-18	35	101				
PCBP3	54039	broad.mit.edu	37	21	47350746	47350746	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr21:47350746G>C	ENST00000400314.1	+	13	1181	c.843G>C	c.(841-843)atG>atC	p.M281I	PCBP3_ENST00000400309.1_Missense_Mutation_p.M280I|PCBP3_ENST00000400304.1_Missense_Mutation_p.M271I|PCBP3_ENST00000400310.1_Intron|PCBP3_ENST00000400308.1_Missense_Mutation_p.M255I|PCBP3_ENST00000449640.1_Missense_Mutation_p.M281I|PRED62_ENST00000593412.1_Intron			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	281					mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		aaaatctgatgggccagtcat	0.547																																						ENST00000400314.1																			0				biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(841-843)atG>atC		poly(rC) binding protein 3							60.0	62.0	62.0					21																	47350746		2006	4187	6193	SO:0001583	missense	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47350746G>C	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.843G>C	21.37:g.47350746G>C	ENSP00000383168:p.Met281Ile					PCBP3_ENST00000400310.1_Intron|PCBP3_ENST00000449640.1_Missense_Mutation_p.M281I|PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400304.1_Missense_Mutation_p.M271I|PCBP3_ENST00000400308.1_Missense_Mutation_p.M255I|PRED62_ENST00000593412.1_Intron|PCBP3_ENST00000400309.1_Missense_Mutation_p.M280I	p.M281I			P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	13	1181	+	all_hematologic(128;0.24)		281					A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Missense_Mutation	SNP	ENST00000400314.1	37	c.843G>C	CCDS42974.2	.	.	.	.	.	.	.	.	.	.	G	10.53	1.375623	0.24857	.	.	ENSG00000183570	ENST00000400314;ENST00000400309;ENST00000400308;ENST00000449640;ENST00000400305;ENST00000400304	T;T;T;T;T;T	0.41065	1.58;1.57;1.55;1.58;1.98;1.01	4.36	4.36	0.52297	.	1.446580	0.04987	U	0.466624	T	0.42154	0.1190	N	0.08118	0	0.31283	N	0.690394	B;B;B;B;B	0.33000	0.0;0.0;0.393;0.0;0.0	B;B;P;B;B	0.48627	0.0;0.0;0.584;0.0;0.0	T	0.46527	-0.9185	10	0.23302	T	0.38	-6.7352	14.5593	0.68123	0.0:0.0:1.0:0.0	.	256;271;255;280;281	P57721-3;E9PFP8;P57721-2;P57721-4;P57721	.;.;.;.;PCBP3_HUMAN	I	281;280;255;281;232;271	ENSP00000383168:M281I;ENSP00000383164:M280I;ENSP00000383163:M255I;ENSP00000401198:M281I;ENSP00000383160:M232I;ENSP00000383159:M271I	ENSP00000383159:M271I	M	+	3	0	PCBP3	46175174	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.260000	0.51523	2.409000	0.81822	0.655000	0.94253	ATG		0.547	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2			17	38	0	0	0	0.008871	0	17	38				
OR7G1	125962	broad.mit.edu	37	19	9226035	9226035	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:9226035G>A	ENST00000541538.1	-	1	404	c.405C>T	c.(403-405)ctC>ctT	p.L135L	OR7G1_ENST00000293614.1_Silent_p.L135L	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						GGACATTCATGAGGACTGTGT	0.493																																						ENST00000293614.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						c.(403-405)ctC>ctT		olfactory receptor, family 7, subfamily G, member 1							94.0	94.0	94.0					19																	9226035		2203	4300	6503	SO:0001819	synonymous_variant	125962				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9226035G>A		CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"""GPCR / Class A : Olfactory receptors"""	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.405C>T	19.37:g.9226035G>A						OR7G1_ENST00000541538.1_Silent_p.L135L	p.L135L			Q8NGA0	OR7G1_HUMAN			1	404	-			135					Q6IFJ5|Q96RA1	Silent	SNP	ENST00000541538.1	37	c.405C>T	CCDS32898.2																																																																																				0.493	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397912.1			28	98	0	0	0	0.006320	0	28	98				
BCOR	54880	broad.mit.edu	37	X	39930340	39930340	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chrX:39930340C>T	ENST00000378444.4	-	6	3352	c.3124G>A	c.(3124-3126)Gag>Aag	p.E1042K	BCOR_ENST00000378455.4_Missense_Mutation_p.E1024K|BCOR_ENST00000342274.4_Missense_Mutation_p.E1042K|BCOR_ENST00000378463.1_5'Flank|BCOR_ENST00000397354.3_Missense_Mutation_p.E1042K	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1042					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						TTGCACATCTCGGAGTCTTTG	0.488			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				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						c.(3124-3126)Gag>Aag		BCL6 corepressor							124.0	100.0	108.0					X																	39930340		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:39930340C>T	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.3124G>A	X.37:g.39930340C>T	ENSP00000367705:p.Glu1042Lys					BCOR_ENST00000378444.4_Missense_Mutation_p.E1042K|BCOR_ENST00000378455.4_Missense_Mutation_p.E1024K|BCOR_ENST00000397354.3_Missense_Mutation_p.E1042K	p.E1042K	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			6	3486	-			1042					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.3124G>A	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126072	0.77436	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76	5.87	5.87	0.94306	.	.	.	.	.	T	0.24547	0.0595	L	0.29908	0.895	0.53688	D	0.999979	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.78314	0.951;0.991;0.934	T	0.00847	-1.1542	9	0.49607	T	0.09	-26.5127	19.1908	0.93666	0.0:1.0:0.0:0.0	.	1024;1042;1042	Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;BCOR_HUMAN;.	K	1024;1042;1042;1042;1042	ENSP00000367716:E1024K;ENSP00000380512:E1042K;ENSP00000367705:E1042K;ENSP00000345923:E1042K;ENSP00000384485:E1042K	ENSP00000345923:E1042K	E	-	1	0	BCOR	39815284	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.337000	0.65941	2.483000	0.83821	0.600000	0.82982	GAG		0.488	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		34	28	0	0	0	0.012213	0	34	28				
ZBTB37	84614	broad.mit.edu	37	1	173842693	173842693	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:173842693C>A	ENST00000367701.5	+	3	1203	c.1012C>A	c.(1012-1014)Ccc>Acc	p.P338T	ZBTB37_ENST00000367702.1_Missense_Mutation_p.P338T|ZBTB37_ENST00000367704.1_Intron|ZBTB37_ENST00000432989.1_Missense_Mutation_p.P338T|ZBTB37_ENST00000427304.1_Missense_Mutation_p.P338T			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	338					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)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						GCCTAAGCAACCCAGCTCCCA	0.458																																						ENST00000427304.1																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						c.(1012-1014)Ccc>Acc		zinc finger and BTB domain containing 37							89.0	87.0	88.0					1																	173842693		2203	4300	6503	SO:0001583	missense	84614				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:173842693C>A	AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.1012C>A	1.37:g.173842693C>A	ENSP00000356674:p.Pro338Thr					ZBTB37_ENST00000432989.1_Missense_Mutation_p.P338T|ZBTB37_ENST00000367704.1_Intron|ZBTB37_ENST00000367702.1_Missense_Mutation_p.P338T|ZBTB37_ENST00000367701.4_Missense_Mutation_p.P338T	p.P338T	NM_001122770.1	NP_001116242.1	Q5TC79	ZBT37_HUMAN			4	1288	+			338					Q5TC80|Q96M87|Q9BQ88	Missense_Mutation	SNP	ENST00000367701.5	37	c.1012C>A	CCDS44278.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609904	0.28712	.	.	ENSG00000185278	ENST00000427304;ENST00000432989;ENST00000367702;ENST00000367703;ENST00000367701	T;T;T;T	0.76839	2.44;-1.05;-1.05;2.44	5.91	5.91	0.95273	.	0.281802	0.40908	D	0.000983	T	0.48714	0.1515	N	0.12182	0.205	0.46203	D	0.998929	B;B	0.26635	0.155;0.13	B;B	0.24006	0.047;0.05	T	0.50338	-0.8840	10	0.29301	T	0.29	.	15.0617	0.71961	0.1418:0.8582:0.0:0.0	.	338;338	Q5TC79;Q5TC79-2	ZBT37_HUMAN;.	T	338;338;338;246;338	ENSP00000415293:P338T;ENSP00000409408:P338T;ENSP00000356675:P338T;ENSP00000356674:P338T	ENSP00000356674:P338T	P	+	1	0	ZBTB37	172109316	0.996000	0.38824	0.944000	0.38274	0.998000	0.95712	5.439000	0.66556	2.793000	0.96121	0.655000	0.94253	CCC		0.458	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090729.2	NM_032522		14	66	1	0	6.72482e-11	0.024245	7.14112e-11	14	66				
SATB1	6304	broad.mit.edu	37	3	18393545	18393545	+	Missense_Mutation	SNP	G	G	A	rs564141224		TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr3:18393545G>A	ENST00000338745.6	-	10	3452	c.1718C>T	c.(1717-1719)gCg>gTg	p.A573V	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Missense_Mutation_p.A573V|SATB1_ENST00000417717.2_Missense_Mutation_p.A573V	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	573					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GTGATGCACCGCGTTGCTCTC	0.498																																						ENST00000338745.6																			0				NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(1717-1719)gCg>gTg		SATB homeobox 1							157.0	137.0	144.0					3																	18393545		2203	4300	6503	SO:0001583	missense	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18393545G>A		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1718C>T	3.37:g.18393545G>A	ENSP00000341024:p.Ala573Val					SATB1_ENST00000454909.2_Missense_Mutation_p.A573V|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.A573V	p.A573V	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN			10	3452	-			573					B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	ENST00000338745.6	37	c.1718C>T	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262182	0.80358	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	T;T;T	0.48522	1.94;1.94;0.81	5.52	5.52	0.82312	Lambda repressor-like, DNA-binding (1);	0.154693	0.56097	D	0.000024	T	0.47192	0.1432	L	0.27053	0.805	0.80722	D	1	D;D	0.58268	0.982;0.969	P;B	0.48982	0.597;0.392	T	0.46428	-0.9192	10	0.51188	T	0.08	-20.3882	19.4255	0.94740	0.0:0.0:1.0:0.0	.	573;573	Q01826-2;Q01826	.;SATB1_HUMAN	V	573	ENSP00000341024:A573V;ENSP00000399708:A573V;ENSP00000399518:A573V	ENSP00000341024:A573V	A	-	2	0	SATB1	18368549	1.000000	0.71417	0.971000	0.41717	0.922000	0.55478	5.166000	0.64965	2.588000	0.87417	0.655000	0.94253	GCG		0.498	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		37	112	0	0	0	0.025465	0	37	112				
DIP2A	23181	broad.mit.edu	37	21	47969758	47969758	+	Missense_Mutation	SNP	C	C	T	rs368841415		TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr21:47969758C>T	ENST00000417564.2	+	22	2618	c.2597C>T	c.(2596-2598)tCg>tTg	p.S866L	DIP2A_ENST00000427143.2_Missense_Mutation_p.S802L|DIP2A_ENST00000457905.3_Missense_Mutation_p.S866L|DIP2A_ENST00000318711.7_Missense_Mutation_p.S867L|DIP2A_ENST00000400274.1_Missense_Mutation_p.S862L			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	866					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCGGATGCCTCGGAGGAGGAC	0.642																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2599-2601)tCg>tTg		DIP2 disco-interacting protein 2 homolog A (Drosophila)		C	LEU/SER,LEU/SER,LEU/SER,LEU/SER	1,4403	2.1+/-5.4	0,1,2201	74.0	82.0	79.0		2405,2585,2597,2597	3.9	0.7	21		79	0,8600		0,0,4300	no	missense,missense,missense,missense	DIP2A	NM_001146114.1,NM_001146116.1,NM_015151.3,NM_206889.2	145,145,145,145	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	802/1111,862/1568,866/1572,866/890	47969758	1,13003	2202	4300	6502	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47969758C>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.2597C>T	21.37:g.47969758C>T	ENSP00000392066:p.Ser866Leu					DIP2A_ENST00000457905.3_Missense_Mutation_p.S866L|DIP2A_ENST00000427143.2_Missense_Mutation_p.S802L|DIP2A_ENST00000417564.2_Missense_Mutation_p.S866L|DIP2A_ENST00000400274.1_Missense_Mutation_p.S862L	p.S867L	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	22	2783	+	Breast(49;0.0933)		866					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.2600C>T	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.932345	0.92389	2.27E-4	0.0	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000457905;ENST00000417564	T;T;T;T;T	0.10382	2.88;2.88;2.88;2.88;2.88	4.76	3.86	0.44501	.	0.149485	0.46442	D	0.000297	T	0.24314	0.0589	M	0.61703	1.905	0.58432	D	0.999996	P;P;P;D	0.65815	0.947;0.945;0.801;0.995	P;P;B;P	0.59115	0.505;0.449;0.217;0.852	T	0.00733	-1.1589	10	0.54805	T	0.06	-14.6211	13.072	0.59068	0.0:0.9161:0.0:0.0839	.	867;802;866;866	E9PER1;E7EMA5;Q14689;Q14689-4	.;.;DIP2A_HUMAN;.	L	862;802;867;866;866	ENSP00000383133:S862L;ENSP00000400528:S802L;ENSP00000323633:S867L;ENSP00000393434:S866L;ENSP00000392066:S866L	ENSP00000323633:S867L	S	+	2	0	DIP2A	46794186	0.881000	0.30235	0.700000	0.30305	0.966000	0.64601	4.765000	0.62271	2.351000	0.79841	0.650000	0.86243	TCG		0.642	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		37	118	0	0	0	0.021022	0	37	118				
SEC14L2	23541	broad.mit.edu	37	22	30812008	30812008	+	Silent	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr22:30812008C>T	ENST00000312932.9	+	10	1103	c.843C>T	c.(841-843)agC>agT	p.S281S	SEC14L2_ENST00000403484.1_Silent_p.S207S|SEC14L2_ENST00000402592.3_Silent_p.S198S|RP4-539M6.19_ENST00000439838.1_Silent_p.S115S|SEC14L2_ENST00000405717.3_Silent_p.S281S	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	281	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cholesterol biosynthetic process (GO:0045540)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	ATGAACACAGCGTGCAGATTT	0.557																																						ENST00000312932.9																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10						c.(841-843)agC>agT		SEC14-like 2 (S. cerevisiae)	Vitamin E(DB00163)						101.0	89.0	93.0					22																	30812008		2203	4300	6503	SO:0001819	synonymous_variant	23541				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding	g.chr22:30812008C>T	AL096881	CCDS13876.1, CCDS46685.1, CCDS56228.1	22q12.2	2010-08-19	2001-11-28		ENSG00000100003	ENSG00000100003			10699	protein-coding gene	gene with protein product	"""supernatant protein factor"""	607558	"""SEC14 (S. cerevisiae)-like 2"""	C22orf6		10591208	Standard	NM_033382		Approved	TAP, SPF, KIAA1186, KIAA1658	uc003ahr.3	O76054	OTTHUMG00000151024	ENST00000312932.9:c.843C>T	22.37:g.30812008C>T						SEC14L2_ENST00000402592.3_Silent_p.S198S|SEC14L2_ENST00000403484.1_Silent_p.S207S|SEC14L2_ENST00000405717.3_Silent_p.S281S|RP4-539M6.19_ENST00000439838.1_Silent_p.S115S	p.S281S	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN			10	1103	+			281			GOLD.		B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	Silent	SNP	ENST00000312932.9	37	c.843C>T	CCDS13876.1																																																																																				0.557	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321018.4	NM_012429		30	110	0	0	0	0.009535	0	30	110				
MRGPRF	116535	broad.mit.edu	37	11	68772961	68772961	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr11:68772961C>T	ENST00000309099.6	-	3	1199	c.817G>A	c.(817-819)Gag>Aag	p.E273K	MRGPRF_ENST00000441623.1_Missense_Mutation_p.E273K|RP11-554A11.5_ENST00000562506.1_RNA	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	273						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GTGACGTACTCGGGGAAGGGG	0.612																																						ENST00000309099.6																			0				endometrium(3)|lung(4)	7						c.(817-819)Gag>Aag		MAS-related GPR, member F							36.0	27.0	30.0					11																	68772961		2197	4290	6487	SO:0001583	missense	116535					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68772961C>T	AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"""GPCR / Class A : Orphans"""	24828	protein-coding gene	gene with protein product		607233	"""G protein-coupled receptor 168"", ""G protein-coupled receptor 140"""	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.817G>A	11.37:g.68772961C>T	ENSP00000309782:p.Glu273Lys					MRGPRF_ENST00000441623.1_Missense_Mutation_p.E273K	p.E273K	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		3	1199	-			273					B3KV43|Q8NBK8	Missense_Mutation	SNP	ENST00000309099.6	37	c.817G>A	CCDS8188.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.005235	0.54254	.	.	ENSG00000172935	ENST00000441623;ENST00000309099;ENST00000421543	T;T	0.71341	-0.56;-0.56	5.15	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000381	T	0.67859	0.2938	L	0.53249	1.67	0.29997	N	0.816342	D	0.61697	0.99	P	0.49047	0.599	T	0.64567	-0.6377	10	0.23891	T	0.37	-28.0703	10.1368	0.42712	0.1992:0.8008:0.0:0.0	.	273	Q96AM1	MRGRF_HUMAN	K	273;273;245	ENSP00000403660:E273K;ENSP00000309782:E273K	ENSP00000309782:E273K	E	-	1	0	MRGPRF	68529537	0.000000	0.05858	0.986000	0.45419	0.973000	0.67179	0.296000	0.19083	2.403000	0.81681	0.561000	0.74099	GAG		0.612	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396875.1	NM_145015		4	7	0	0	0	0.021553	0	4	7				
HERC3	8916	broad.mit.edu	37	4	89583679	89583679	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr4:89583679C>G	ENST00000402738.1	+	11	1483	c.1244C>G	c.(1243-1245)tCa>tGa	p.S415*	HERC3_ENST00000264345.3_Nonsense_Mutation_p.S415*|HERC3_ENST00000543130.1_Intron	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	415					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		CAAAAACTCTCAGAACACAAC	0.348																																						ENST00000402738.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45						c.(1243-1245)tCa>tGa		HECT and RLD domain containing E3 ubiquitin protein ligase 3							107.0	102.0	104.0					4																	89583679		2203	4300	6503	SO:0001587	stop_gained	8916				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	g.chr4:89583679C>G	D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.1244C>G	4.37:g.89583679C>G	ENSP00000385684:p.Ser415*					HERC3_ENST00000264345.3_Nonsense_Mutation_p.S415*|HERC3_ENST00000543130.1_Intron	p.S415*	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000319)	11	1483	+			415					A8K1S5|Q8IXX3	Nonsense_Mutation	SNP	ENST00000402738.1	37	c.1244C>G	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	C	39	7.308675	0.98203	.	.	ENSG00000138641	ENST00000402738;ENST00000264345	.	.	.	4.57	4.57	0.56435	.	0.303423	0.31989	N	0.006746	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	8.4508	0.32869	0.0:0.821:0.0:0.179	.	.	.	.	X	415	.	ENSP00000264345:S415X	S	+	2	0	HERC3	89802702	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.486000	0.45259	2.526000	0.85167	0.655000	0.94253	TCA		0.348	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		21	55	0	0	0	0.018920	0	21	55				
MST1L	11223	broad.mit.edu	37	1	17083837	17083837	+	RNA	SNP	T	T	C	rs7798	byFrequency	TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:17083837T>C	ENST00000455405.2	-	0	751							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										CTAATTCCTTTCAGGACCCAG	0.572													.|||	796	0.158946	0.3442	0.147	5008	,	,		39830	0.0139		0.1183	False		,,,				2504	0.1084					ENST00000455405.2																			0																																																			11223							g.chr1:17083837T>C	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083837T>C														0	751	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37			.	.	.	.	.	.	.	.	.	.	.	4.613	0.113916	0.08831	.	.	ENSG00000186715	ENST00000334998;ENST00000442552	.	.	.	.	.	.	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.354697	0.20253	N	0.096033	T	0.15478	0.0373	.	.	.	.	.	.	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31752	-0.9932	6	0.07030	T	0.85	.	4.4522	0.11626	0.0:0.6658:0.0:0.3342	rs7798;rs1065517;rs3206536;rs4661972;rs9329464;rs11545932;rs17349417;rs7798	654;680	Q2TV78-2;Q2TV78	.;MSTP9_HUMAN	E	654;680	.	ENSP00000439273:K654E	K	-	1	0	MST1P9	16956424	1.000000	0.71417	0.916000	0.36221	0.000000	0.00434	2.244000	0.43124	-0.406000	0.07588	0.000000	0.15137	AAA		0.572	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		3	63	0	0	0	0.014758	0	3	63				
SPTA1	6708	broad.mit.edu	37	1	158650472	158650472	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:158650472G>A	ENST00000368147.4	-	5	759	c.579C>T	c.(577-579)acC>acT	p.T193T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	193					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCAGAACTTCGGTGCGCTCCC	0.463																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(577-579)acC>acT		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							116.0	114.0	115.0					1																	158650472		1888	4127	6015	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158650472G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.579C>T	1.37:g.158650472G>A						SPTA1_ENST00000368147.3_Silent_p.T193T	p.T193T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			5	759	-	all_hematologic(112;0.0378)		193					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.579C>T	CCDS41423.1																																																																																				0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		36	125	0	0	0	0.015359	0	36	125				
ACTA1	58	broad.mit.edu	37	1	229567573	229567573	+	Silent	SNP	C	C	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:229567573C>A	ENST00000366684.3	-	6	987	c.885G>T	c.(883-885)ctG>ctT	p.L295L	ACTA1_ENST00000366683.2_Silent_p.L207L	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	295					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)	p.L295L(1)		endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				TGTTGGCATACAGGTCCTTCC	0.597																																						ENST00000366684.3																			1	Substitution - coding silent(1)	p.L295L(1)	prostate(1)	endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28						c.(883-885)ctG>ctT		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						157.0	143.0	148.0					1																	229567573		2203	4300	6503	SO:0001819	synonymous_variant	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229567573C>A	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.885G>T	1.37:g.229567573C>A						ACTA1_ENST00000366683.2_Silent_p.L207L	p.L295L	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN			6	987	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	295					P02568|P99020|Q5T8M9	Silent	SNP	ENST00000366684.3	37	c.885G>T	CCDS1578.1																																																																																				0.597	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		4	126	1	0	0.00116845	0.021553	0.00120075	4	126				
CACNA1D	776	broad.mit.edu	37	3	53844075	53844075	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr3:53844075G>A	ENST00000350061.5	+	47	6453	c.5942G>A	c.(5941-5943)tGg>tAg	p.W1981*	CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.W1957*|CACNA1D_ENST00000288139.4_Nonsense_Mutation_p.W2001*|CACNA1D_ENST00000544977.1_3'UTR	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1981					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCCGGTCGTGGGCCACCCCT	0.612																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(6001-6003)tGg>tAg		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						57.0	59.0	58.0					3																	53844075		2203	4300	6503	SO:0001587	stop_gained	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53844075G>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.5942G>A	3.37:g.53844075G>A	ENSP00000288133:p.Trp1981*					CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.W1957*|CACNA1D_ENST00000350061.5_Nonsense_Mutation_p.W1981*|CACNA1D_ENST00000544977.1_3'UTR	p.W2001*	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	48	6120	+			1981					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Nonsense_Mutation	SNP	ENST00000350061.5	37	c.6002G>A	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	47	13.164046	0.99724	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	.	.	.	5.21	5.21	0.72293	.	0.090555	0.49305	D	0.000149	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.3269	0.87251	0.0:0.0:1.0:0.0	.	.	.	.	X	1981;2001;1957;1674	.	ENSP00000288139:W2001X	W	+	2	0	CACNA1D	53819115	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	9.790000	0.99075	2.608000	0.88229	0.460000	0.39030	TGG		0.612	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		24	77	0	0	0	0.024334	0	24	77				
DNAJC18	202052	broad.mit.edu	37	5	138773229	138773229	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:138773229C>T	ENST00000302060.5	-	2	139	c.59G>A	c.(58-60)aGa>aAa	p.R20K		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	20						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTTGTTTCTTCTAACTGCGTC	0.478																																						ENST00000302060.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13						c.(58-60)aGa>aAa		DnaJ (Hsp40) homolog, subfamily C, member 18							156.0	142.0	147.0					5																	138773229		2203	4300	6503	SO:0001583	missense	202052				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr5:138773229C>T	AK024054	CCDS4214.1	5q31.2	2011-09-02		2005-08-09	ENSG00000170464	ENSG00000170464		"""Heat shock proteins / DNAJ (HSP40)"""	28429	protein-coding gene	gene with protein product							Standard	NM_152686		Approved	MGC29463	uc003len.3	Q9H819	OTTHUMG00000129225	ENST00000302060.5:c.59G>A	5.37:g.138773229C>T	ENSP00000302843:p.Arg20Lys						p.R20K	NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		2	139	-			20						Missense_Mutation	SNP	ENST00000302060.5	37	c.59G>A	CCDS4214.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576752	0.45902	.	.	ENSG00000170464	ENST00000302060;ENST00000515581;ENST00000515277;ENST00000512473	T;T;T	0.68181	0.37;-0.31;0.52	5.55	5.55	0.83447	.	0.298500	0.33980	N	0.004377	T	0.64238	0.2580	N	0.19112	0.55	0.30720	N	0.748313	P;P	0.52842	0.924;0.956	B;P	0.62184	0.437;0.899	T	0.56360	-0.7992	10	0.06236	T	0.91	-4.4685	15.012	0.71557	0.0:1.0:0.0:0.0	.	20;20	D6RB03;Q9H819	.;DJC18_HUMAN	K	20	ENSP00000302843:R20K;ENSP00000424572:R20K;ENSP00000425523:R20K	ENSP00000302843:R20K	R	-	2	0	DNAJC18	138801128	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.780000	0.47742	2.616000	0.88540	0.561000	0.74099	AGA		0.478	DNAJC18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374191.1	NM_152686		25	96	0	0	0	0.024334	0	25	96				
COL5A1	1289	broad.mit.edu	37	9	137591821	137591821	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr9:137591821T>C	ENST00000371817.3	+	3	758	c.344T>C	c.(343-345)tTc>tCc	p.F115S	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	115	Laminin G-like.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGCCAGGCCTTCCTGGTCTCC	0.587																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(343-345)tTc>tCc		collagen, type V, alpha 1							95.0	93.0	94.0					9																	137591821		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137591821T>C	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.344T>C	9.37:g.137591821T>C	ENSP00000360882:p.Phe115Ser					COL5A1_ENST00000464187.1_3'UTR	p.F115S	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	3	758	+		Myeloproliferative disorder(178;0.0341)	115			Laminin G-like.|TSP N-terminal.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.344T>C	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.507852	0.64410	.	.	ENSG00000130635	ENST00000371817	T	0.78003	-1.14	4.81	4.81	0.61882	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.85682	U	0.000000	D	0.83871	0.5348	M	0.78049	2.395	0.48452	D	0.99965	D	0.58970	0.984	P	0.56960	0.81	D	0.85382	0.1120	10	0.62326	D	0.03	.	9.9931	0.41883	0.1509:0.0:0.0:0.849	.	115	P20908	CO5A1_HUMAN	S	115	ENSP00000360882:F115S	ENSP00000360882:F115S	F	+	2	0	COL5A1	136731642	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.858000	0.69532	1.922000	0.55676	0.533000	0.62120	TTC		0.587	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		30	93	0	0	0	0.008361	0	30	93				
TAS2R38	5726	broad.mit.edu	37	7	141672668	141672668	+	Silent	SNP	G	G	A	rs200055111	byFrequency	TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr7:141672668G>A	ENST00000547270.1	-	1	905	c.822C>T	c.(820-822)cgC>cgT	p.R274R		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	274					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CTATTTTGTCGCGCCACAGAA	0.502													g|||	6	0.00119808	0.0008	0.0	5008	,	,		20898	0.0		0.0	False		,,,				2504	0.0051					ENST00000547270.1																			0				NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21						c.(820-822)cgC>cgT		taste receptor, type 2, member 38							77.0	74.0	75.0					7																	141672668		2203	4300	6503	SO:0001819	synonymous_variant	5726				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:141672668G>A	AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	9584	protein-coding gene	gene with protein product		607751	"""phenylthiocarbamide tasting"""	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.822C>T	7.37:g.141672668G>A							p.R274R	NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN			1	905	-	Melanoma(164;0.0171)		274					A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Silent	SNP	ENST00000547270.1	37	c.822C>T	CCDS34765.1																																																																																				0.502	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817		23	67	0	0	0	0.021523	0	23	67				
CYP26A1	1592	broad.mit.edu	37	10	94834671	94834671	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr10:94834671C>T	ENST00000224356.4	+	3	595	c.550C>T	c.(550-552)Ctc>Ttc	p.L184F	CYP26A1_ENST00000371531.1_Missense_Mutation_p.L115F|CYP26A1_ENST00000394139.1_Missense_Mutation_p.L115F	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	184					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	GGTGAAGCGCCTCATGTTCCG	0.652																																						ENST00000371531.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(343-345)Ctc>Ttc		cytochrome P450, family 26, subfamily A, polypeptide 1							45.0	49.0	48.0					10																	94834671		2203	4300	6503	SO:0001583	missense	1592				negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr10:94834671C>T	AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"""Cytochrome P450s"""	2603	protein-coding gene	gene with protein product		602239	"""cytochrome P450, subfamily XXVIA, polypeptide 1"""			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.550C>T	10.37:g.94834671C>T	ENSP00000224356:p.Leu184Phe					CYP26A1_ENST00000394139.1_Missense_Mutation_p.L115F|CYP26A1_ENST00000224356.4_Missense_Mutation_p.L184F	p.L115F	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN			3	721	+		Colorectal(252;0.122)	184					B3KNI4|Q5VXH9|Q5VXI0	Missense_Mutation	SNP	ENST00000224356.4	37	c.343C>T	CCDS7426.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.850234	0.91277	.	.	ENSG00000095596	ENST00000371531;ENST00000224356;ENST00000394139	T;T;T	0.70282	-0.47;-0.47;-0.47	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.74321	0.3701	L	0.42008	1.315	0.80722	D	1	P;P	0.45240	0.854;0.629	P;B	0.52672	0.706;0.431	T	0.70189	-0.4940	10	0.27785	T	0.31	-23.0364	18.5528	0.91072	0.0:1.0:0.0:0.0	.	115;184	B3KNI4;O43174	.;CP26A_HUMAN	F	115;184;115	ENSP00000360586:L115F;ENSP00000224356:L184F;ENSP00000377695:L115F	ENSP00000224356:L184F	L	+	1	0	CYP26A1	94824661	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.647000	0.83462	2.618000	0.88619	0.462000	0.41574	CTC		0.652	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049408.3			3	105	0	0	0	0.009096	0	3	105				
CBR3	874	broad.mit.edu	37	21	37507579	37507579	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr21:37507579C>T	ENST00000290354.5	+	1	370	c.89C>T	c.(88-90)tCt>tTt	p.S30F	CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000608641.1_RNA|CBR3-AS1_ENST00000608632.1_RNA|CBR3-AS1_ENST00000608690.1_RNA|CBR3-AS1_ENST00000608622.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	30					cognition (GO:0050890)|phylloquinone catabolic process (GO:0042376)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	3-keto sterol reductase activity (GO:0000253)|carbonyl reductase (NADPH) activity (GO:0004090)|NADPH binding (GO:0070402)			kidney(1)|large_intestine(1)|lung(1)	3					Doxorubicin(DB00997)	CGACAGTTCTCTGGGGATGTG	0.726																																						ENST00000290354.5																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.(88-90)tCt>tTt		carbonyl reductase 3							14.0	14.0	14.0					21																	37507579		2175	4253	6428	SO:0001583	missense	874					cytosol|nucleus	carbonyl reductase (NADPH) activity|NADPH binding	g.chr21:37507579C>T	AB004854	CCDS13642.1	21q22.2	2011-09-14			ENSG00000159231	ENSG00000159231	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	1549	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 21C, member 2"""	603608				9740676, 19027726	Standard	NM_001236		Approved	SDR21C2	uc002yve.3	O75828	OTTHUMG00000086617	ENST00000290354.5:c.89C>T	21.37:g.37507579C>T	ENSP00000290354:p.Ser30Phe					CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000453159.1_RNA	p.S30F	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN			1	370	+			30					Q6FHP2	Missense_Mutation	SNP	ENST00000290354.5	37	c.89C>T	CCDS13642.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254031	0.80135	.	.	ENSG00000159231	ENST00000290354	T	0.09817	2.94	5.32	5.32	0.75619	NAD(P)-binding domain (1);	0.590229	0.16841	N	0.197337	T	0.19805	0.0476	L	0.35723	1.085	0.29074	N	0.883109	P	0.42039	0.769	P	0.54346	0.749	T	0.01262	-1.1402	10	0.66056	D	0.02	0.0992	13.4776	0.61318	0.2698:0.7302:0.0:0.0	.	30	O75828	CBR3_HUMAN	F	30	ENSP00000290354:S30F	ENSP00000290354:S30F	S	+	2	0	CBR3	36429449	0.004000	0.15560	0.961000	0.40146	0.946000	0.59487	1.128000	0.31369	2.767000	0.95098	0.655000	0.94253	TCT		0.726	CBR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194632.1			3	13	0	0	0	0.004672	0	3	13				
OR52B6	340980	broad.mit.edu	37	11	5602923	5602923	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr11:5602923C>A	ENST00000345043.2	+	1	817	c.817C>A	c.(817-819)Cct>Act	p.P273T	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCTATGTCCCTGCGCTTTT	0.517																																						ENST00000345043.2																			0				endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12						c.(817-819)Cct>Act		olfactory receptor, family 52, subfamily B, member 6							267.0	275.0	272.0					11																	5602923		1976	4162	6138	SO:0001583	missense	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5602923C>A	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.817C>A	11.37:g.5602923C>A	ENSP00000341581:p.Pro273Thr					HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	p.P273T	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	817	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	273					Q6IFI7	Missense_Mutation	SNP	ENST00000345043.2	37	c.817C>A	CCDS41611.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240223	0.39598	.	.	ENSG00000187747	ENST00000345043	T	0.80214	-1.35	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39274	U	0.001411	D	0.88062	0.6336	M	0.71296	2.17	0.30234	N	0.795617	D	0.76494	0.999	D	0.70016	0.967	D	0.85778	0.1359	10	0.62326	D	0.03	.	14.8635	0.70399	0.0:1.0:0.0:0.0	.	273	Q8NGF0	O52B6_HUMAN	T	273	ENSP00000341581:P273T	ENSP00000341581:P273T	P	+	1	0	OR52B6	5559499	0.001000	0.12720	0.520000	0.27837	0.119000	0.20118	1.366000	0.34193	2.378000	0.81104	0.591000	0.81541	CCT		0.517	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		54	233	1	0	1.91123e-38	0.014410	2.16347e-38	54	233				
MGAT4B	11282	broad.mit.edu	37	5	179228838	179228838	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:179228838C>G	ENST00000292591.7	-	2	579	c.229G>C	c.(229-231)Gaa>Caa	p.E77Q	MGAT4B_ENST00000337755.5_Missense_Mutation_p.E92Q|MGAT4B_ENST00000521305.1_5'UTR	NM_014275.4	NP_055090.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	77					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCTGCCTTTCTGACACGGCC	0.672											OREG0017110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(13;414 434 4098 22176 23230)	ENST00000337755.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13						c.(274-276)Gaa>Caa		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B							29.0	28.0	29.0					5																	179228838		2202	4300	6502	SO:0001583	missense	11282				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:179228838C>G	AB000624	CCDS4448.1, CCDS4449.1	5q35	2013-02-25	2005-11-16		ENSG00000161013	ENSG00000161013	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7048	protein-coding gene	gene with protein product		604561	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B"""			10372966	Standard	NM_014275		Approved	GnT-Ivb	uc003mks.3	Q9UQ53	OTTHUMG00000130912	ENST00000292591.7:c.229G>C	5.37:g.179228838C>G	ENSP00000292591:p.Glu77Gln		OREG0017110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1952	MGAT4B_ENST00000521305.1_5'UTR|MGAT4B_ENST00000292591.7_Missense_Mutation_p.E77Q	p.E92Q	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	1160	-	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	77					A8MPR0|Q86TF1|Q96GH4|Q9NSK6	Missense_Mutation	SNP	ENST00000292591.7	37	c.274G>C	CCDS4448.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.173431|5.173431	0.94807|0.94807	.|.	.|.	ENSG00000161013|ENSG00000161013	ENST00000337755;ENST00000292591|ENST00000519836	T;T|.	0.37058|.	1.22;1.29|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73385|0.73385	0.3580|0.3580	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.993;0.999|.	D;D|.	0.80764|.	0.979;0.994|.	T|T	0.71803|0.71803	-0.4482|-0.4482	10|5	0.44086|.	T|.	0.13|.	-43.6684|-43.6684	18.8124|18.8124	0.92063|0.92063	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	77;92|.	Q9UQ53;A8MPR0|.	MGT4B_HUMAN;.|.	Q|H	92;77|24	ENSP00000338487:E92Q;ENSP00000292591:E77Q|.	ENSP00000292591:E77Q|.	E|Q	-|-	1|3	0|2	MGAT4B|MGAT4B	179161444|179161444	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.879000|0.879000	0.50718|0.50718	7.439000|7.439000	0.80444|0.80444	2.453000|2.453000	0.82957|0.82957	0.542000|0.542000	0.68232|0.68232	GAA|CAG		0.672	MGAT4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253503.3	NM_014275		10	35	0	0	0	0.006214	0	10	35				
IL18BP	10068	broad.mit.edu	37	11	71712615	71712615	+	Intron	SNP	G	G	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr11:71712615G>C	ENST00000393703.4	+	5	1044				IL18BP_ENST00000337131.5_Intron|IL18BP_ENST00000497194.2_Missense_Mutation_p.R175T|IL18BP_ENST00000393707.4_Intron|IL18BP_ENST00000393705.4_Intron|IL18BP_ENST00000404792.1_Intron|IL18BP_ENST00000260049.5_Intron|IL18BP_ENST00000531053.1_Missense_Mutation_p.R175T	NM_001039660.1	NP_001034749.1	O95998	I18BP_HUMAN	interleukin 18 binding protein						cellular response to hydrogen peroxide (GO:0070301)|cellular response to tumor necrosis factor (GO:0071356)|extracellular negative regulation of signal transduction (GO:1900116)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	interleukin-18 binding (GO:0042007)|receptor antagonist activity (GO:0048019)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						AGCCCAAGGAGAGGCCTCCAG	0.607																																						ENST00000497194.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						c.(523-525)aGa>aCa		interleukin 18 binding protein							19.0	22.0	21.0					11																	71712615		2011	4167	6178	SO:0001627	intron_variant	10068				T-helper 1 type immune response	extracellular region	interleukin-18 binding|receptor antagonist activity	g.chr11:71712615G>C	AF110798	CCDS8206.2, CCDS44666.1	11q13	2013-01-11			ENSG00000137496	ENSG00000137496		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5987	protein-coding gene	gene with protein product	"""MC51L-53L-54L homolog gene product"""	604113				10023777	Standard	NM_001145055		Approved	IL18BPa	uc001orf.1	O95998	OTTHUMG00000133713	ENST00000393703.4:c.507+17G>C	11.37:g.71712615G>C						IL18BP_ENST00000393707.4_Intron|IL18BP_ENST00000531053.1_Missense_Mutation_p.R175T|IL18BP_ENST00000337131.5_Intron|IL18BP_ENST00000404792.1_Intron|IL18BP_ENST00000393703.4_Intron|IL18BP_ENST00000260049.5_Intron|IL18BP_ENST00000393705.4_Intron	p.R175T			O95998	I18BP_HUMAN			4	1896	+			0					B3KUZ0|B7WPK4|O95993|O96027|Q9NZA9|Q9UBR7	Missense_Mutation	SNP	ENST00000393703.4	37	c.524G>C	CCDS8206.2	.	.	.	.	.	.	.	.	.	.	G	6.072	0.381623	0.11524	.	.	ENSG00000137496	ENST00000497194;ENST00000531053	T;T	0.32023	1.47;1.47	3.79	-5.94	0.02247	.	.	.	.	.	T	0.04543	0.0124	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40232	-0.9574	8	.	.	.	.	5.5898	0.17295	0.3055:0.296:0.3984:0.0	.	175	G3V1C5	.	T	175	ENSP00000434717:R175T;ENSP00000434835:R175T	.	R	+	2	0	IL18BP	71390263	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.256000	0.08757	-0.990000	0.03481	-1.080000	0.02220	AGA		0.607	IL18BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258012.2	NM_173042		4	19	0	0	0	0.009096	0	4	19				
ITSN2	50618	broad.mit.edu	37	2	24521584	24521584	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:24521584C>A	ENST00000355123.4	-	13	1887	c.1444G>T	c.(1444-1446)Gtc>Ttc	p.V482F	ITSN2_ENST00000361999.3_Missense_Mutation_p.V482F|ITSN2_ENST00000406921.3_Missense_Mutation_p.V482F	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	482					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTAACCTGACAATTTCTTCT	0.398																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(1444-1446)Gtc>Ttc		intersectin 2							162.0	158.0	159.0					2																	24521584		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24521584C>A	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1444G>T	2.37:g.24521584C>A	ENSP00000347244:p.Val482Phe					ITSN2_ENST00000361999.3_Missense_Mutation_p.V482F|ITSN2_ENST00000406921.3_Missense_Mutation_p.V482F	p.V482F	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			13	1887	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		482					O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.1444G>T	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778042	0.49786	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	T;T;T;T;D	0.81579	0.2;0.23;0.2;0.67;-1.51	5.24	5.24	0.73138	.	0.222920	0.21948	U	0.066769	T	0.79816	0.4511	L	0.47716	1.5	0.32379	N	0.554744	P;P;P;P	0.50443	0.935;0.919;0.834;0.744	P;P;B;B	0.49708	0.62;0.483;0.406;0.23	D	0.84467	0.0597	10	0.72032	D	0.01	.	10.8195	0.46595	0.0:0.8525:0.0:0.1475	.	482;482;482;482	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	F	482;482;482;506;482;507	ENSP00000354561:V482F;ENSP00000347244:V482F;ENSP00000370250:V482F;ENSP00000384499:V482F;ENSP00000391224:V507F	ENSP00000347244:V482F	V	-	1	0	ITSN2	24375088	0.984000	0.35163	1.000000	0.80357	0.996000	0.88848	1.362000	0.34148	2.628000	0.89032	0.484000	0.47621	GTC		0.398	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		36	135	1	0	4.11147e-13	0.017118	4.47248e-13	36	135				
NFAT5	10725	broad.mit.edu	37	16	69681025	69681025	+	Silent	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr16:69681025C>T	ENST00000354436.2	+	3	612	c.294C>T	c.(292-294)acC>acT	p.T98T	NFAT5_ENST00000393742.2_Silent_p.T22T|NFAT5_ENST00000432919.1_Silent_p.T116T|NFAT5_ENST00000566899.1_Silent_p.T22T|NFAT5_ENST00000567239.1_Silent_p.T116T|NFAT5_ENST00000349945.1_Silent_p.T22T	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	98	Ser-rich.				cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CCTCAGTCACCGACAGCAAGG	0.532																																						ENST00000349945.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(64-66)acC>acT		nuclear factor of activated T-cells 5, tonicity-responsive							181.0	174.0	177.0					16																	69681025		2198	4300	6498	SO:0001819	synonymous_variant	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69681025C>T	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.294C>T	16.37:g.69681025C>T						NFAT5_ENST00000354436.2_Silent_p.T98T|NFAT5_ENST00000566899.1_Silent_p.T22T|NFAT5_ENST00000432919.1_Silent_p.T116T|NFAT5_ENST00000393742.2_Silent_p.T22T|NFAT5_ENST00000567239.1_Silent_p.T116T	p.T22T	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			5	1618	+			98					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Silent	SNP	ENST00000354436.2	37	c.66C>T	CCDS10881.1																																																																																				0.532	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		96	302	0	0	0	0.014410	0	96	302				
RPA1	6117	broad.mit.edu	37	17	1747221	1747221	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:1747221G>A	ENST00000254719.5	+	3	202	c.92G>A	c.(91-93)cGt>cAt	p.R31H		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	31					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TAGAACATCCGTCCCATTACT	0.488								Nucleotide excision repair (NER)																														ENST00000254719.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						c.(91-93)cGt>cAt	Nucleotide excision repair (NER)	replication protein A1, 70kDa							178.0	128.0	145.0					17																	1747221		2203	4300	6503	SO:0001583	missense	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1747221G>A	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.92G>A	17.37:g.1747221G>A	ENSP00000254719:p.Arg31His						p.R31H	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN			3	202	+			31					A8K0Y9|Q59ES9	Missense_Mutation	SNP	ENST00000254719.5	37	c.92G>A	CCDS11014.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650158	0.87958	.	.	ENSG00000132383	ENST00000254719	T	0.50813	0.73	5.96	5.96	0.96718	Replication factor-A protein 1, N-terminal (1);Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.74351	0.3705	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.77664	-0.2503	10	0.87932	D	0	-10.0022	19.1907	0.93664	0.0:0.0:1.0:0.0	.	31	P27694	RFA1_HUMAN	H	31	ENSP00000254719:R31H	ENSP00000254719:R31H	R	+	2	0	RPA1	1693971	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	6.117000	0.71577	2.831000	0.97527	0.650000	0.86243	CGT		0.488	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		24	105	0	0	0	0.021523	0	24	105				
C17orf74	201243	broad.mit.edu	37	17	7329025	7329025	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:7329025G>A	ENST00000333870.3	+	1	92	c.18G>A	c.(16-18)tgG>tgA	p.W6*	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Nonsense_Mutation_p.W6*	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	6						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				ACCAGCTATGGCATAACACCG	0.592																																						ENST00000333870.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22						c.(16-18)tgG>tgA		chromosome 17 open reading frame 74							151.0	144.0	146.0					17																	7329025		1939	4124	6063	SO:0001587	stop_gained	201243					integral to membrane		g.chr17:7329025G>A	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.18G>A	17.37:g.7329025G>A	ENSP00000328061:p.Trp6*					RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Nonsense_Mutation_p.W6*	p.W6*	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN			1	92	+		Prostate(122;0.157)	6						Nonsense_Mutation	SNP	ENST00000333870.3	37	c.18G>A	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673667	0.47781	.	.	ENSG00000184560	ENST00000333870	.	.	.	4.0	3.01	0.34805	.	1.114770	0.07067	N	0.834775	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5929	9.1218	0.36791	0.0:0.0:0.7821:0.2179	.	.	.	.	X	6	.	ENSP00000328061:W6X	W	+	3	0	C17orf74	7269749	0.011000	0.17503	0.007000	0.13788	0.450000	0.32258	1.676000	0.37565	0.991000	0.38814	0.491000	0.48974	TGG		0.592	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		65	170	0	0	0	0.014410	0	65	170				
KCNQ3	3786	broad.mit.edu	37	8	133144493	133144493	+	Silent	SNP	G	G	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr8:133144493G>C	ENST00000388996.4	-	14	2238	c.1818C>G	c.(1816-1818)gcC>gcG	p.A606A	KCNQ3_ENST00000519445.1_Silent_p.A594A|KCNQ3_ENST00000521134.1_Silent_p.A486A	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	606					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TGGATGGTCTGGCTACATATG	0.403																																						ENST00000388996.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(1816-1818)gcC>gcG		potassium voltage-gated channel, KQT-like subfamily, member 3							142.0	133.0	136.0					8																	133144493		2203	4300	6503	SO:0001819	synonymous_variant	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133144493G>C	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1818C>G	8.37:g.133144493G>C						KCNQ3_ENST00000519445.1_Silent_p.A594A|KCNQ3_ENST00000521134.1_Silent_p.A486A	p.A606A	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		14	2238	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		606					A2VCT8|B4DJY4|E7EQ89	Silent	SNP	ENST00000388996.4	37	c.1818C>G	CCDS34943.1																																																																																				0.403	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		57	71	0	0	0	0.014410	0	57	71				
PDE1A	5136	broad.mit.edu	37	2	183129053	183129053	+	Missense_Mutation	SNP	C	C	G	rs149743969		TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:183129053C>G	ENST00000410103.1	-	3	273	c.190G>C	c.(190-192)Gaa>Caa	p.E64Q	PDE1A_ENST00000351439.5_Missense_Mutation_p.E48Q|PDE1A_ENST00000358139.2_Missense_Mutation_p.E64Q|PDE1A_ENST00000409365.1_Missense_Mutation_p.E48Q|PDE1A_ENST00000456212.1_Missense_Mutation_p.E64Q|PDE1A_ENST00000331935.6_Missense_Mutation_p.E64Q|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000435564.1_Missense_Mutation_p.E64Q	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	64					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TAAACTGCTTCCAGCACAGAT	0.378																																						ENST00000435564.1																			0				endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35						c.(190-192)Gaa>Caa		phosphodiesterase 1A, calmodulin-dependent							116.0	109.0	112.0					2																	183129053		2202	4300	6502	SO:0001583	missense	5136				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183129053C>G		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.190G>C	2.37:g.183129053C>G	ENSP00000387037:p.Glu64Gln					PDE1A_ENST00000331935.6_Missense_Mutation_p.E64Q|PDE1A_ENST00000409365.1_Missense_Mutation_p.E48Q|PDE1A_ENST00000358139.2_Missense_Mutation_p.E64Q|PDE1A_ENST00000456212.1_Missense_Mutation_p.E64Q|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000351439.5_Missense_Mutation_p.E48Q|PDE1A_ENST00000410103.1_Missense_Mutation_p.E64Q	p.E64Q	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		2	390	-			64					D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	ENST00000410103.1	37	c.190G>C	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	C	32	5.105333	0.94245	.	.	ENSG00000115252	ENST00000435564;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	T;T;T;T;T;T;T	0.75154	-0.91;-0.87;-0.91;-0.87;-0.9;-0.9;-0.89	5.73	5.73	0.89815	.	0.098893	0.64402	D	0.000001	D	0.85444	0.5698	M	0.72353	2.195	0.58432	D	0.999999	D;D;D	0.76494	0.997;0.999;0.998	D;D;D	0.74674	0.964;0.983;0.984	T	0.83212	-0.0073	10	0.37606	T	0.19	.	18.8374	0.92168	0.0:1.0:0.0:0.0	.	64;48;64	P54750;P54750-2;P54750-4	PDE1A_HUMAN;.;.	Q	64;48;64;48;64;64;64	ENSP00000410309:E64Q;ENSP00000386767:E48Q;ENSP00000331574:E64Q;ENSP00000309269:E48Q;ENSP00000387037:E64Q;ENSP00000350858:E64Q;ENSP00000408874:E64Q	ENSP00000331574:E64Q	E	-	1	0	PDE1A	182837298	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.170000	0.77587	2.861000	0.98227	0.655000	0.94253	GAA		0.378	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			23	100	0	0	0	0.024334	0	23	100				
TNFRSF11B	4982	broad.mit.edu	37	8	119938851	119938851	+	Silent	SNP	G	G	A	rs150457771	byFrequency	TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr8:119938851G>A	ENST00000297350.4	-	4	1077	c.699C>T	c.(697-699)aaC>aaT	p.N233N		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	233	Death 1.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CACTCTCTGCGTTTACTTTGG	0.443													G|||	10	0.00199681	0.0015	0.0014	5008	,	,		19164	0.0		0.0	False		,,,				2504	0.0072					ENST00000297350.4																			0				breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25						c.(697-699)aaC>aaT		tumor necrosis factor receptor superfamily, member 11b		G		9,4397	15.5+/-35.6	0,9,2194	186.0	170.0	176.0		699	2.0	0.9	8	dbSNP_134	176	0,8600		0,0,4300	no	coding-synonymous	TNFRSF11B	NM_002546.3		0,9,6494	AA,AG,GG		0.0,0.2043,0.0692		233/402	119938851	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	4982				apoptosis|skeletal system development		cytokine activity|receptor activity	g.chr8:119938851G>A	U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"""Tumor necrosis factor receptor superfamily"""	11909	protein-coding gene	gene with protein product		602643	"""osteoprotegerin"""	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.699C>T	8.37:g.119938851G>A							p.N233N	NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	STAD - Stomach adenocarcinoma(47;0.00193)		4	1077	-	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		233			Death 1.		B2R9A8|O60236|Q53FX6|Q9UHP4	Silent	SNP	ENST00000297350.4	37	c.699C>T	CCDS6326.1																																																																																				0.443	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1			52	201	0	0	0	0.014410	0	52	201				
CPM	1368	broad.mit.edu	37	12	69250409	69250409	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:69250409C>G	ENST00000551568.1	-	9	1200	c.1140G>C	c.(1138-1140)gaG>gaC	p.E380D	CPM_ENST00000546373.1_Missense_Mutation_p.E380D|CPM_ENST00000338356.3_Missense_Mutation_p.E380D	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	380					anatomical structure morphogenesis (GO:0009653)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TCTGGGATTTCTCCGGAATAA	0.408																																						ENST00000551568.1																			0				large_intestine(1)|lung(6)|prostate(2)	9						c.(1138-1140)gaG>gaC		carboxypeptidase M							99.0	97.0	98.0					12																	69250409		2203	4300	6503	SO:0001583	missense	1368				anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding	g.chr12:69250409C>G	AF368463	CCDS8987.1	12q15	2012-02-10			ENSG00000135678	ENSG00000135678	3.4.17.12		2311	protein-coding gene	gene with protein product	"""renal carboxypeptidase"", ""urinary carboxypeptidase B"""	114860				8586455	Standard	NM_001874		Approved		uc001suq.3	P14384	OTTHUMG00000169300	ENST00000551568.1:c.1140G>C	12.37:g.69250409C>G	ENSP00000448517:p.Glu380Asp					CPM_ENST00000338356.3_Missense_Mutation_p.E380D|CPM_ENST00000546373.1_Missense_Mutation_p.E380D	p.E380D	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		9	1200	-	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		380					B2R800|Q9H2K9	Missense_Mutation	SNP	ENST00000551568.1	37	c.1140G>C	CCDS8987.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467131	0.26335	.	.	ENSG00000135678	ENST00000551568;ENST00000338356;ENST00000546373	T;T;T	0.43294	0.95;0.95;0.95	5.48	2.22	0.28083	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	1.230140	0.05397	N	0.539901	T	0.19327	0.0464	N	0.03948	-0.315	0.22888	N	0.998605	B	0.02656	0.0	B	0.04013	0.001	T	0.22765	-1.0207	9	.	.	.	-0.0083	4.4906	0.11812	0.0:0.377:0.4699:0.1531	.	380	P14384	CBPM_HUMAN	D	380	ENSP00000448517:E380D;ENSP00000339157:E380D;ENSP00000447255:E380D	.	E	-	3	2	CPM	67536676	0.008000	0.16893	0.652000	0.29579	0.825000	0.46686	-0.088000	0.11198	0.666000	0.31087	0.655000	0.94253	GAG		0.408	CPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403355.1	NM_198320		38	123	0	0	0	0.021022	0	38	123				
SPRY1	10252	broad.mit.edu	37	4	124323279	124323279	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr4:124323279A>G	ENST00000394339.2	+	2	873	c.533A>G	c.(532-534)aAg>aGg	p.K178R	SPRY1_ENST00000339241.1_Missense_Mutation_p.K178R	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	178					epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						ACACAGCACAAGTTCATTTGT	0.527																																						ENST00000394339.2																			0				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						c.(532-534)aAg>aGg		sprouty homolog 1, antagonist of FGF signaling (Drosophila)							136.0	120.0	126.0					4																	124323279		2203	4300	6503	SO:0001583	missense	10252				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane		g.chr4:124323279A>G	AF041037	CCDS3731.1	4q	2009-04-17	2001-11-28		ENSG00000164056	ENSG00000164056			11269	protein-coding gene	gene with protein product		602465	"""sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)"""			9458049, 15962011	Standard	NM_001258038		Approved	hSPRY1	uc003ifa.4	O43609	OTTHUMG00000133071	ENST00000394339.2:c.533A>G	4.37:g.124323279A>G	ENSP00000377871:p.Lys178Arg					SPRY1_ENST00000339241.1_Missense_Mutation_p.K178R	p.K178R	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN			2	873	+			178					D3DNX6|Q6PNE0	Missense_Mutation	SNP	ENST00000394339.2	37	c.533A>G	CCDS3731.1	.	.	.	.	.	.	.	.	.	.	A	5.070	0.198555	0.09652	.	.	ENSG00000164056	ENST00000339241;ENST00000507703;ENST00000394339	T;T;T	0.55234	0.53;1.53;0.53	5.06	3.84	0.44239	.	0.214076	0.39834	N	0.001245	T	0.32285	0.0824	N	0.22421	0.69	0.29414	N	0.861032	B	0.09022	0.002	B	0.04013	0.001	T	0.15723	-1.0427	9	.	.	.	-22.0421	5.5694	0.17188	0.7674:0.0:0.0798:0.1528	.	178	O43609	SPY1_HUMAN	R	178	ENSP00000343785:K178R;ENSP00000421036:K178R;ENSP00000377871:K178R	.	K	+	2	0	SPRY1	124542729	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.478000	0.53158	0.901000	0.36495	0.459000	0.35465	AAG		0.527	SPRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256711.1			35	84	0	0	0	0.013726	0	35	84				
RUNDC3B	154661	broad.mit.edu	37	7	87459257	87459257	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr7:87459257G>C	ENST00000338056.3	+	12	1745	c.1334G>C	c.(1333-1335)aGt>aCt	p.S445T	RUNDC3B_ENST00000493037.1_Missense_Mutation_p.S379T|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.S428T	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	445										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TCAGTGGCAAGTTACAAGTCT	0.378																																						ENST00000338056.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26						c.(1333-1335)aGt>aCt		RUN domain containing 3B							134.0	133.0	133.0					7																	87459257		2203	4300	6503	SO:0001583	missense	154661							g.chr7:87459257G>C		CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.1334G>C	7.37:g.87459257G>C	ENSP00000337732:p.Ser445Thr					RUNDC3B_ENST00000493037.1_Missense_Mutation_p.S379T|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.S428T	p.S445T	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN			12	1745	+	Esophageal squamous(14;0.00164)		445					B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	ENST00000338056.3	37	c.1334G>C	CCDS5609.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770190	0.90108	.	.	ENSG00000105784	ENST00000338056;ENST00000493037;ENST00000394654	T;T;T	0.35605	1.57;1.3;1.55	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.58104	0.2099	L	0.59436	1.845	0.58432	D	0.999991	D;P;P;D	0.89917	0.982;0.954;0.954;1.0	D;D;D;D	0.87578	0.952;0.943;0.943;0.998	T	0.56469	-0.7974	10	0.52906	T	0.07	-11.5023	17.7312	0.88378	0.0:0.0:1.0:0.0	.	428;301;379;445	E9PBR4;Q96NL0-2;Q96NL0-4;Q96NL0	.;.;.;RUN3B_HUMAN	T	445;379;428	ENSP00000337732:S445T;ENSP00000420394:S379T;ENSP00000378149:S428T	ENSP00000337732:S445T	S	+	2	0	RUNDC3B	87297193	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.131000	0.94446	2.628000	0.89032	0.585000	0.79938	AGT		0.378	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290		55	163	0	0	0	0.014410	0	55	163				
TUBA3C	7278	broad.mit.edu	37	13	19751261	19751261	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr13:19751261C>T	ENST00000400113.3	-	4	966	c.862G>A	c.(862-864)Gtg>Atg	p.V288M		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	288					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ATCTCAGCCACGGACAGCTGC	0.607																																						ENST00000400113.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(862-864)Gtg>Atg		tubulin, alpha 3c							150.0	133.0	138.0					13																	19751261		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751261C>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.862G>A	13.37:g.19751261C>T	ENSP00000382982:p.Val288Met						p.V288M	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	4	966	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	288					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.862G>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	10.38	1.334912	0.24253	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.88046	-2.33	1.19	1.19	0.21007	.	0.000000	0.42294	U	0.000740	D	0.88662	0.6497	.	.	.	0.41188	D	0.986281	.	.	.	.	.	.	D	0.87966	0.2733	7	0.87932	D	0	.	8.3297	0.32178	0.0:1.0:0.0:0.0	.	.	.	.	M	288	ENSP00000382982:V288M	ENSP00000354037:V288M	V	-	1	0	TUBA3C	18649261	1.000000	0.71417	0.985000	0.45067	0.516000	0.34256	6.295000	0.72744	0.972000	0.38314	0.175000	0.17021	GTG		0.607	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		43	137	0	0	0	0.014410	0	43	137				
THEMIS	387357	broad.mit.edu	37	6	128150927	128150927	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr6:128150927G>T	ENST00000368248.2	-	3	551	c.403C>A	c.(403-405)Caa>Aaa	p.Q135K	THEMIS_ENST00000543064.1_Missense_Mutation_p.Q135K|THEMIS_ENST00000368250.1_Missense_Mutation_p.Q56K|THEMIS_ENST00000537166.1_Missense_Mutation_p.Q100K	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	135	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AGCATGATTTGCTCACCCTGC	0.403																																						ENST00000368250.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(166-168)Caa>Aaa		thymocyte selection associated							137.0	136.0	136.0					6																	128150927		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128150927G>T	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.403C>A	6.37:g.128150927G>T	ENSP00000357231:p.Gln135Lys					THEMIS_ENST00000537166.1_Missense_Mutation_p.Q100K|THEMIS_ENST00000368248.2_Missense_Mutation_p.Q135K|THEMIS_ENST00000543064.1_Missense_Mutation_p.Q135K	p.Q56K			Q8N1K5	THMS1_HUMAN			4	664	-			135			CABIT 1.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.166C>A	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	G	0.338	-0.952332	0.02285	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.12879	2.64;2.64;2.64;2.64	6.14	-1.52	0.08637	.	0.839355	0.11212	N	0.587573	T	0.02571	0.0078	L	0.51422	1.61	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.002;0.005	T	0.48293	-0.9048	10	0.06099	T	0.92	-0.0939	7.2421	0.26102	0.0557:0.1812:0.208:0.5551	.	135;135	F5H1J9;Q8N1K5	.;THMS1_HUMAN	K	56;135;135;100	ENSP00000357233:Q56K;ENSP00000439594:Q135K;ENSP00000357231:Q135K;ENSP00000439863:Q100K	ENSP00000357231:Q135K	Q	-	1	0	THEMIS	128192620	0.005000	0.15991	0.089000	0.20774	0.694000	0.40290	0.245000	0.18142	-0.316000	0.08690	-0.187000	0.12897	CAA		0.403	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		69	196	1	0	3.31162e-33	0.014410	3.72975e-33	69	196				
SPDYE3	441272	broad.mit.edu	37	7	99917323	99917323	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr7:99917323G>A	ENST00000332397.6	+	9	1666	c.1482G>A	c.(1480-1482)ccG>ccA	p.P494P	SPDYE3_ENST00000437326.2_Silent_p.P117P	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	494										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						CCATGAACCCGAGGGCCAGGA	0.547																																						ENST00000332397.6																			0				endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(1480-1482)ccG>ccA		speedy/RINGO cell cycle regulator family member E3							110.0	118.0	115.0					7																	99917323		2203	4300	6503	SO:0001819	synonymous_variant	441272							g.chr7:99917323G>A	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1482G>A	7.37:g.99917323G>A						SPDYE3_ENST00000437326.2_Silent_p.P117P	p.P494P	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN			9	1666	+			494					Q495Y9|Q6PHC4	Silent	SNP	ENST00000332397.6	37	c.1482G>A	CCDS47658.2																																																																																				0.547	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		37	118	0	0	0	0.017118	0	37	118				
PSG11	5680	broad.mit.edu	37	19	43530465	43530465	+	Silent	SNP	G	G	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:43530465G>C	ENST00000401740.1	-	1	163	c.60C>G	c.(58-60)ctC>ctG	p.L20L	PSG11_ENST00000320078.7_Silent_p.L20L|PSG11_ENST00000306322.7_Silent_p.L20L|PSG11_ENST00000403486.1_Silent_p.L20L			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	20					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CCTCACCTGTGAGCAGGAGCC	0.562																																						ENST00000401740.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(58-60)ctC>ctG		pregnancy specific beta-1-glycoprotein 11							98.0	91.0	93.0					19																	43530465		2200	4299	6499	SO:0001819	synonymous_variant	5680				female pregnancy	extracellular region		g.chr19:43530465G>C	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.60C>G	19.37:g.43530465G>C						PSG11_ENST00000320078.7_Silent_p.L20L|PSG11_ENST00000306322.7_Silent_p.L20L|PSG11_ENST00000403486.1_Silent_p.L20L	p.L20L			Q9UQ72	PSG11_HUMAN			1	163	-		Prostate(69;0.00682)	20					B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	ENST00000401740.1	37	c.60C>G	CCDS12614.2																																																																																				0.562	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		46	204	0	0	0	0.014410	0	46	204				
MTA3	57504	broad.mit.edu	37	2	42909708	42909708	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:42909708C>A	ENST00000405094.1	+	9	870	c.870C>A	c.(868-870)ttC>ttA	p.F290L	MTA3_ENST00000405592.1_Missense_Mutation_p.F234L|MTA3_ENST00000406911.1_Missense_Mutation_p.F290L|MTA3_ENST00000406652.1_Missense_Mutation_p.F234L|MTA3_ENST00000407270.3_Missense_Mutation_p.F290L			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	290	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.					intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						GCAAAGACTTCAATGACATAC	0.363																																						ENST00000405592.1																			0				endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						c.(700-702)ttC>ttA		metastasis associated 1 family, member 3							60.0	54.0	56.0					2																	42909708		1844	4084	5928	SO:0001583	missense	57504					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:42909708C>A	AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"""GATA zinc finger domain containing"""	23784	protein-coding gene	gene with protein product		609050	"""metastasis associated gene family, member 3"""			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.870C>A	2.37:g.42909708C>A	ENSP00000385823:p.Phe290Leu					MTA3_ENST00000406652.1_Missense_Mutation_p.F234L|MTA3_ENST00000406911.1_Missense_Mutation_p.F290L|MTA3_ENST00000405094.1_Missense_Mutation_p.F290L|MTA3_ENST00000407270.3_Missense_Mutation_p.F290L	p.F234L			Q9BTC8	MTA3_HUMAN			10	1372	+			290			ELM2.		Q9NSP2|Q9ULF4	Missense_Mutation	SNP	ENST00000405094.1	37	c.702C>A		.	.	.	.	.	.	.	.	.	.	C	25.7	4.669272	0.88348	.	.	ENSG00000057935	ENST00000405592;ENST00000406652;ENST00000407270;ENST00000282366;ENST00000406911;ENST00000405094	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.51	4.64	0.57946	.	0.101306	0.64402	D	0.000001	T	0.57975	0.2090	M	0.82923	2.615	0.80722	D	1	P;P;B	0.47191	0.826;0.891;0.439	B;P;B	0.50352	0.287;0.638;0.399	T	0.66224	-0.5977	10	0.87932	D	0	-5.9597	14.2986	0.66331	0.0:0.9282:0.0:0.0718	.	290;290;234	E7EQY4;Q9BTC8-2;D6W5A2	.;.;.	L	234;234;290;290;290;290	ENSP00000383973:F234L;ENSP00000384249:F234L;ENSP00000385045:F290L;ENSP00000385241:F290L;ENSP00000385823:F290L	ENSP00000282366:F290L	F	+	3	2	MTA3	42763212	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.680000	0.61656	1.338000	0.45544	0.591000	0.81541	TTC		0.363	MTA3-017	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318159.1	NM_020744		4	16	1	0	0.00024832	0.009096	0.000256367	4	16				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			643955							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			5	40	0	0	0	0.003080	0	5	40				
ABCB6	10058	broad.mit.edu	37	2	220081144	220081144	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:220081144C>T	ENST00000265316.3	-	4	1228	c.912G>A	c.(910-912)tgG>tgA	p.W304*	ABCB6_ENST00000439002.2_Nonsense_Mutation_p.W258*	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	304	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGTAACAGTCCAGGCCAGAG	0.552																																						ENST00000265316.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(910-912)tgG>tgA		ATP-binding cassette, sub-family B (MDR/TAP), member 6							102.0	110.0	107.0					2																	220081144		2203	4300	6503	SO:0001587	stop_gained	10058				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	g.chr2:220081144C>T	AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.912G>A	2.37:g.220081144C>T	ENSP00000265316:p.Trp304*					ABCB6_ENST00000439002.2_Nonsense_Mutation_p.W258*	p.W304*	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1228	-		Renal(207;0.0474)	304			ABC transmembrane type-1.		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Nonsense_Mutation	SNP	ENST00000265316.3	37	c.912G>A	CCDS2436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.735843|7.735843	0.98462|0.98462	.|.	.|.	ENSG00000115657|ENSG00000115657	ENST00000295750|ENST00000265316;ENST00000439002	.|.	.|.	.|.	5.17|5.17	4.3|4.3	0.51218|0.51218	.|.	.|0.602858	.|0.17818	.|N	.|0.160961	T|.	0.68220|.	0.2977|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.65483|.	-0.6157|.	4|.	.|0.33940	.|T	.|0.23	-3.4059|-3.4059	13.599|13.599	0.62007|0.62007	0.0:0.9261:0.0:0.0739|0.0:0.9261:0.0:0.0739	.|.	.|.	.|.	.|.	E|X	152|304;258	.|.	.|ENSP00000265316:W304X	G|W	-|-	2|3	0|0	ABCB6|ABCB6	219789388|219789388	0.985000|0.985000	0.35326|0.35326	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.927000|0.927000	0.28818|0.28818	1.410000|1.410000	0.46936|0.46936	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.552	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689		18	95	0	0	0	0.010504	0	18	95				
PRICKLE2	166336	broad.mit.edu	37	3	64085080	64085080	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr3:64085080G>A	ENST00000295902.6	-	8	2767	c.2182C>T	c.(2182-2184)Cgc>Tgc	p.R728C	PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.R784C|PRICKLE2-AS1_ENST00000460946.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	728	Arg-rich.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CTCCGCTGGCGCATAAATTGG	0.617																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(2182-2184)Cgc>Tgc		prickle homolog 2 (Drosophila)							46.0	50.0	48.0					3																	64085080		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64085080G>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2182C>T	3.37:g.64085080G>A	ENSP00000295902:p.Arg728Cys					RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.R784C|PRICKLE2-AS1_ENST00000476308.1_RNA	p.R728C	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2767	-		Lung NSC(201;0.136)	728			Arg-rich.		Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.2182C>T	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404454	0.42613	.	.	ENSG00000163637	ENST00000295902	D	0.84873	-1.91	5.33	5.33	0.75918	.	0.236745	0.37669	N	0.001984	T	0.76572	0.4006	N	0.22421	0.69	0.45930	D	0.998765	P	0.41978	0.767	B	0.34452	0.183	T	0.78868	-0.2034	10	0.45353	T	0.12	-43.1434	19.3767	0.94512	0.0:0.0:1.0:0.0	.	728	Q7Z3G6	PRIC2_HUMAN	C	728	ENSP00000295902:R728C	ENSP00000295902:R728C	R	-	1	0	PRICKLE2	64060120	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.328000	0.52052	2.651000	0.90000	0.591000	0.81541	CGC		0.617	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		4	104	0	0	0	0.009096	0	4	104				
EIF4G2	1982	broad.mit.edu	37	11	10821202	10821202	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr11:10821202T>C	ENST00000526148.1	-	19	2731	c.2221A>G	c.(2221-2223)Ata>Gta	p.I741V	EIF4G2_ENST00000339995.5_Missense_Mutation_p.I741V|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Missense_Mutation_p.I703V|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000525681.1_Missense_Mutation_p.I741V	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TCCAACTTTATTTGCTTCAAC	0.368																																						ENST00000526148.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43						c.(2221-2223)Ata>Gta		eukaryotic translation initiation factor 4 gamma, 2							144.0	140.0	141.0					11																	10821202		2201	4294	6495	SO:0001583	missense	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10821202T>C	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.2221A>G	11.37:g.10821202T>C	ENSP00000433664:p.Ile741Val					EIF4G2_ENST00000339995.5_Missense_Mutation_p.I741V|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Missense_Mutation_p.I703V|EIF4G2_ENST00000525681.1_Missense_Mutation_p.I741V	p.I741V	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	19	2731	-			741			W2.			Missense_Mutation	SNP	ENST00000526148.1	37	c.2221A>G	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.361665	0.61403	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000379653	T;T;T;T	0.20069	2.1;2.1;2.1;2.13	5.52	5.52	0.82312	eIF4-gamma/eIF5/eIF2-epsilon (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.22166	0.0534	L	0.58428	1.81	0.48571	D	0.999676	B;P	0.36587	0.388;0.559	B;B	0.28385	0.089;0.089	T	0.36817	-0.9732	9	0.66056	D	0.02	-8.6524	15.651	0.77091	0.0:0.0:0.0:1.0	.	741;814	P78344;B4DZF2	IF4G2_HUMAN;.	V	741;741;741;703;814;123	ENSP00000433664:I741V;ENSP00000433371:I741V;ENSP00000340281:I741V;ENSP00000379778:I703V	ENSP00000340281:I741V	I	-	1	0	EIF4G2	10777778	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.223000	0.72257	2.101000	0.63845	0.460000	0.39030	ATA		0.368	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		43	127	0	0	0	0.010771	0	43	127				
DAB2	1601	broad.mit.edu	37	5	39382739	39382739	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:39382739C>G	ENST00000320816.6	-	10	1789	c.1322G>C	c.(1321-1323)aGa>aCa	p.R441T	DAB2_ENST00000545653.1_Missense_Mutation_p.R420T|DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Missense_Mutation_p.R420T	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	441	Required for localization to clathrin- coated pits. {ECO:0000250}.				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)			CCTTCTGCCTCTTCCTGGTTT	0.483																																						ENST00000320816.6																			0				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						c.(1321-1323)aGa>aCa		Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)							166.0	168.0	167.0					5																	39382739		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.chr5:39382739C>G	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.1322G>C	5.37:g.39382739C>G	ENSP00000313391:p.Arg441Thr					DAB2_ENST00000339788.6_Intron|DAB2_ENST00000545653.1_Missense_Mutation_p.R420T|DAB2_ENST00000509337.1_Missense_Mutation_p.R420T	p.R441T	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Epithelial(62;0.137)		10	1789	-	all_lung(31;0.000197)		441					A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	c.1322G>C	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973112	0.74246	.	.	ENSG00000153071	ENST00000320816;ENST00000545653;ENST00000509337	T;T;T	0.60548	0.18;0.52;0.52	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.75295	0.3830	M	0.64997	1.995	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.79108	0.961;0.992	T	0.71951	-0.4437	10	0.45353	T	0.12	-15.5882	20.5827	0.99408	0.0:1.0:0.0:0.0	.	441;420	P98082;P98082-3	DAB2_HUMAN;.	T	441;420;420	ENSP00000313391:R441T;ENSP00000439919:R420T;ENSP00000426245:R420T	ENSP00000313391:R441T	R	-	2	0	DAB2	39418496	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.941000	0.99782	0.655000	0.94253	AGA		0.483	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		45	149	0	0	0	0.013114	0	45	149				
ITGAD	3681	broad.mit.edu	37	16	31404708	31404708	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr16:31404708G>A	ENST00000389202.2	+	1	76	c.27G>A	c.(25-27)ctG>ctA	p.L9L		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	9					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGCTTCTTCTGAGTGGTAAGT	0.627																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(25-27)ctG>ctA		integrin, alpha D							100.0	85.0	90.0					16																	31404708		2197	4300	6497	SO:0001819	synonymous_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31404708G>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.27G>A	16.37:g.31404708G>A							p.L9L	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			1	76	+			9					Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	c.27G>A	CCDS32438.1																																																																																				0.627	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		62	159	0	0	0	0.014410	0	62	159				
C10orf113	387638	broad.mit.edu	37	10	21435284	21435284	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr10:21435284G>A	ENST00000534331.1	-	1	204	c.154C>T	c.(154-156)Cca>Tca	p.P52S	NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000529198.1_Missense_Mutation_p.P52S|C10orf113_ENST00000377118.4_Missense_Mutation_p.P42S	NM_001010896.2	NP_001010896.2	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	52										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						TTCATGTCTGGAATGTACATT	0.443																																						ENST00000529198.1																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						c.(154-156)Cca>Tca		chromosome 10 open reading frame 113							146.0	128.0	134.0					10																	21435284		2203	4300	6503	SO:0001583	missense	387638							g.chr10:21435284G>A		CCDS31162.1, CCDS31162.2, CCDS53496.1	10p12.31	2012-06-12			ENSG00000204683	ENSG00000204683			31447	protein-coding gene	gene with protein product							Standard	NM_001010896		Approved	bA165O3.1	uc001iqm.3	Q5VZT2	OTTHUMG00000017786	ENST00000534331.1:c.154C>T	10.37:g.21435284G>A	ENSP00000433646:p.Pro52Ser					C10orf113_ENST00000377118.4_Missense_Mutation_p.P42S|NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000534331.1_Missense_Mutation_p.P52S	p.P52S	NM_001177483.1	NP_001170954.1	Q5VZT2	CJ113_HUMAN			1	204	-			52					B9EIM9|E9PRX7	Missense_Mutation	SNP	ENST00000534331.1	37	c.154C>T	CCDS31162.2	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300961	0.40694	.	.	ENSG00000204683	ENST00000534331;ENST00000529198;ENST00000377118	T;T	0.40225	1.04;1.04	5.12	3.25	0.37280	.	.	.	.	.	T	0.34424	0.0897	N	0.08118	0	0.09310	N	1	D	0.61697	0.99	P	0.56865	0.808	T	0.10109	-1.0644	9	0.87932	D	0	-1.0583	6.2323	0.20742	0.0933:0.0:0.7237:0.183	.	52	Q5VZT2	CJ113_HUMAN	S	52;52;42	ENSP00000433646:P52S;ENSP00000366322:P42S	ENSP00000366322:P42S	P	-	1	0	C10orf113	21475290	0.006000	0.16342	0.025000	0.17156	0.403000	0.30841	1.189000	0.32114	0.728000	0.32382	0.655000	0.94253	CCA		0.443	C10orf113-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047108.3	NM_001010896		31	106	0	0	0	0.010818	0	31	106				
NOS2	4843	broad.mit.edu	37	17	26101285	26101285	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:26101285G>T	ENST00000313735.6	-	12	1707	c.1474C>A	c.(1474-1476)Cag>Aag	p.Q492K		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	492					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	CCCCTAACCTGATAGTAGTAG	0.547																																						ENST00000313735.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.(1474-1476)Cag>Aag		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						89.0	82.0	84.0					17																	26101285		2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26101285G>T	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.1474C>A	17.37:g.26101285G>T	ENSP00000327251:p.Gln492Lys						p.Q492K	NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN			12	1707	-			492					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.1474C>A	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.851509	0.91355	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.28666	1.6	5.67	5.67	0.87782	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.85682	D	0.000000	T	0.59756	0.2217	M	0.78344	2.41	0.80722	D	1	P;D	0.89917	0.93;1.0	P;D	0.91635	0.769;0.999	T	0.62704	-0.6798	10	0.87932	D	0	.	18.7664	0.91874	0.0:0.0:1.0:0.0	.	492;492	F8WEM3;P35228	.;NOS2_HUMAN	K	492;453;492	ENSP00000327251:Q492K	ENSP00000305638:Q492K	Q	-	1	0	NOS2	23125412	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	9.743000	0.98849	2.667000	0.90743	0.561000	0.74099	CAG		0.547	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		11	31	1	0	7.03913e-09	0.013537	7.40436e-09	11	31				
VRK2	7444	broad.mit.edu	37	2	58350334	58350334	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:58350334A>G	ENST00000435505.2	+	11	1387	c.642A>G	c.(640-642)atA>atG	p.I214M	VRK2_ENST00000417641.2_Missense_Mutation_p.I214M|VRK2_ENST00000340157.4_Missense_Mutation_p.I214M|VRK2_ENST00000412104.2_Missense_Mutation_p.I214M|VRK2_ENST00000440705.2_Missense_Mutation_p.I191M			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	214	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						ATGGGACAATAGAGTTTACCA	0.383																																						ENST00000435505.2																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						c.(640-642)atA>atG		vaccinia related kinase 2							112.0	108.0	109.0					2																	58350334		2203	4300	6503	SO:0001583	missense	7444					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:58350334A>G	AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.642A>G	2.37:g.58350334A>G	ENSP00000408002:p.Ile214Met					VRK2_ENST00000412104.2_Missense_Mutation_p.I214M|VRK2_ENST00000440705.2_Missense_Mutation_p.I191M|VRK2_ENST00000340157.4_Missense_Mutation_p.I214M|VRK2_ENST00000417641.2_Missense_Mutation_p.I214M	p.I214M			Q86Y07	VRK2_HUMAN			11	1387	+			214			Protein kinase.		B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Missense_Mutation	SNP	ENST00000435505.2	37	c.642A>G	CCDS1859.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.966278	0.34659	.	.	ENSG00000028116	ENST00000435505;ENST00000417641;ENST00000423109;ENST00000412104;ENST00000340157;ENST00000394539;ENST00000440705	T;T;T;T;T	0.06687	3.27;3.27;3.27;3.27;3.27	5.72	0.541	0.17168	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.221121	0.52532	N	0.000071	T	0.12944	0.0314	M	0.82433	2.59	0.46260	D	0.998959	B;B;B;B	0.22541	0.071;0.001;0.002;0.008	B;B;B;B	0.34242	0.178;0.03;0.086;0.159	T	0.03354	-1.1045	10	0.52906	T	0.07	-5.7247	3.782	0.08684	0.4367:0.0:0.307:0.2562	.	218;214;214;214	B7Z2X1;Q86Y07-2;Q86Y07-5;Q86Y07	.;.;.;VRK2_HUMAN	M	214;214;218;214;214;214;191	ENSP00000408002:I214M;ENSP00000402375:I214M;ENSP00000404156:I214M;ENSP00000342381:I214M;ENSP00000398323:I191M	ENSP00000342381:I214M	I	+	3	3	VRK2	58203838	0.740000	0.28207	0.996000	0.52242	0.993000	0.82548	-0.039000	0.12124	-0.144000	0.11314	-0.386000	0.06593	ATA		0.383	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296		3	203	0	0	0	0.009096	0	3	203				
RASGRF2	5924	broad.mit.edu	37	5	80422959	80422959	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:80422959C>A	ENST00000265080.4	+	17	2730	c.2663C>A	c.(2662-2664)gCa>gAa	p.A888E		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	888					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GCCACAGCTGCAGCAGGACAT	0.498																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2662-2664)gCa>gAa		Ras protein-specific guanine nucleotide-releasing factor 2							54.0	55.0	54.0					5																	80422959		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80422959C>A	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2663C>A	5.37:g.80422959C>A	ENSP00000265080:p.Ala888Glu						p.A888E	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	17	2730	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	888					B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.2663C>A	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682946	0.88542	.	.	ENSG00000113319	ENST00000265080	T	0.77620	-1.11	5.78	5.78	0.91487	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	0.094256	0.64402	D	0.000001	T	0.81293	0.4792	M	0.66939	2.045	0.46298	D	0.998971	D	0.58268	0.982	P	0.55260	0.772	T	0.77091	-0.2716	10	0.02654	T	1	.	16.9338	0.86198	0.0:1.0:0.0:0.0	.	888	O14827	RGRF2_HUMAN	E	888	ENSP00000265080:A888E	ENSP00000265080:A888E	A	+	2	0	RASGRF2	80458715	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.319000	0.65835	2.732000	0.93576	0.555000	0.69702	GCA		0.498	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		10	53	1	0	1.61879e-10	0.013537	1.71086e-10	10	53				
FCGBP	8857	broad.mit.edu	37	19	40392591	40392591	+	Missense_Mutation	SNP	C	C	T	rs587620216		TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:40392591C>T	ENST00000221347.6	-	16	7920	c.7913G>A	c.(7912-7914)gGg>gAg	p.G2638E		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2638	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCCTCGCTCCCCGGCGGGCA	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		24016	0.0		0.0	False		,,,				2504	0.001					ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(7912-7914)gGg>gAg		Fc fragment of IgG binding protein							47.0	52.0	50.0					19																	40392591		2192	4300	6492	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40392591C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7913G>A	19.37:g.40392591C>T	ENSP00000221347:p.Gly2638Glu						p.G2638E	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		16	7920	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2638			VWFD 6.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.7913G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	1.224	-0.625943	0.03610	.	.	ENSG00000090920	ENST00000221347	T	0.18502	2.21	2.0	-0.424	0.12321	von Willebrand factor, type D domain (1);	0.708385	0.12697	N	0.446655	T	0.14527	0.0351	M	0.66297	2.02	0.09310	N	1	P	0.37015	0.578	B	0.40285	0.325	T	0.25676	-1.0125	10	0.02654	T	1	.	4.5722	0.12216	0.0:0.5981:0.243:0.1588	.	2638	Q9Y6R7	FCGBP_HUMAN	E	2638	ENSP00000221347:G2638E	ENSP00000221347:G2638E	G	-	2	0	FCGBP	45084431	0.473000	0.25878	0.001000	0.08648	0.044000	0.14063	2.929000	0.48916	-0.022000	0.13986	0.298000	0.19748	GGG		0.667	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		19	66	0	0	0	0.012319	0	19	66				
DLC1	10395	broad.mit.edu	37	8	12957760	12957760	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr8:12957760C>T	ENST00000276297.4	-	9	2495	c.2086G>A	c.(2086-2088)Ggg>Agg	p.G696R	DLC1_ENST00000520226.1_Missense_Mutation_p.G185R|DLC1_ENST00000358919.2_Missense_Mutation_p.G259R|DLC1_ENST00000512044.2_Missense_Mutation_p.G293R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	696					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AAGATGGGCCCGCTGATGATC	0.572																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2086-2088)Ggg>Agg		deleted in liver cancer 1							81.0	76.0	77.0					8																	12957760		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957760C>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2086G>A	8.37:g.12957760C>T	ENSP00000276297:p.Gly696Arg					DLC1_ENST00000358919.2_Missense_Mutation_p.G259R|DLC1_ENST00000512044.2_Missense_Mutation_p.G293R|DLC1_ENST00000520226.1_Missense_Mutation_p.G185R	p.G696R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2495	-			696					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2086G>A	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639565	0.67244	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.07216	3.48;3.24;3.23;3.21	4.84	4.84	0.62591	.	0.162323	0.53938	D	0.000043	T	0.20820	0.0501	L	0.53249	1.67	0.80722	D	1	D;B;P	0.59357	0.985;0.077;0.816	P;B;B	0.56042	0.79;0.018;0.21	T	0.00184	-1.1944	10	0.56958	D	0.05	.	18.5404	0.91025	0.0:1.0:0.0:0.0	.	696;293;259	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	R	696;259;293;185	ENSP00000276297:G696R;ENSP00000351797:G259R;ENSP00000422595:G293R;ENSP00000428028:G185R	ENSP00000276297:G696R	G	-	1	0	DLC1	13002131	0.995000	0.38212	0.968000	0.41197	0.919000	0.55068	4.779000	0.62375	2.683000	0.91414	0.655000	0.94253	GGG		0.572	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		92	110	0	0	0	0.014410	0	92	110				
EGR1	1958	broad.mit.edu	37	5	137802445	137802445	+	Splice_Site	SNP	G	G	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:137802445G>C	ENST00000239938.4	+	2	579		c.e2-1			NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1						BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCTCCTGCCAGAGTCTTTTCC	0.592																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.e2-1		early growth response 1							132.0	143.0	139.0					5																	137802445		2203	4300	6503	SO:0001630	splice_region_variant	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137802445G>C	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.308-1G>C	5.37:g.137802445G>C								NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	579	+									Splice_Site	SNP	ENST00000239938.4	37		CCDS4206.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082866	0.76642	.	.	ENSG00000120738	ENST00000535792;ENST00000411801;ENST00000239938	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0006	0.89196	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EGR1	137830344	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.867000	0.87062	2.242000	0.73789	0.448000	0.29417	.		0.592	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964	Intron	68	280	0	0	0	0.014410	0	68	280				
DNM3	26052	broad.mit.edu	37	1	172348185	172348185	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:172348185G>C	ENST00000355305.5	+	18	2096	c.1939G>C	c.(1939-1941)Gaa>Caa	p.E647Q	DNM3_ENST00000367731.1_Missense_Mutation_p.E637Q|DNM3_ENST00000358155.4_Missense_Mutation_p.E641Q			Q9UQ16	DYN3_HUMAN	dynamin 3	647					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TGGACAAGCAGAAAACTTTTC	0.388																																						ENST00000358155.4																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(1921-1923)Gaa>Caa		dynamin 3							76.0	79.0	78.0					1																	172348185		2017	4208	6225	SO:0001583	missense	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:172348185G>C	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.1939G>C	1.37:g.172348185G>C	ENSP00000347457:p.Glu647Gln					DNM3_ENST00000355305.5_Missense_Mutation_p.E647Q|DNM3_ENST00000367731.1_Missense_Mutation_p.E637Q	p.E641Q	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN			18	2097	+			647					A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37	c.1921G>C		.	.	.	.	.	.	.	.	.	.	G	15.34	2.805292	0.50315	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000355305;ENST00000367731;ENST00000485254	D;D;D;T	0.93019	-3.14;-3.14;-3.15;-0.68	5.49	5.49	0.81192	.	0.055451	0.64402	D	0.000001	D	0.87454	0.6181	L	0.48642	1.525	0.80722	D	1	B;B	0.17465	0.022;0.013	B;B	0.16289	0.015;0.015	T	0.83235	-0.0061	10	0.30854	T	0.27	.	17.9414	0.89027	0.0:0.0:1.0:0.0	.	637;641	Q9UQ16-2;Q9UQ16-3	.;.	Q	651;641;647;637;10	ENSP00000350876:E641Q;ENSP00000347457:E647Q;ENSP00000356705:E637Q;ENSP00000429165:E10Q	ENSP00000347457:E647Q	E	+	1	0	DNM3	170614808	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.783000	0.75078	2.576000	0.86940	0.555000	0.69702	GAA		0.388	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		13	36	0	0	0	0.016723	0	13	36				
ZNF521	25925	broad.mit.edu	37	18	22805215	22805215	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr18:22805215G>A	ENST00000361524.3	-	4	2815	c.2667C>T	c.(2665-2667)gaC>gaT	p.D889D	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Silent_p.D669D|ZNF521_ENST00000538137.2_Silent_p.D889D	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	889					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CCCCACAAATGTCGCAGCCGT	0.522			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(2665-2667)gaC>gaT		zinc finger protein 521							120.0	112.0	115.0					18																	22805215		2203	4300	6503	SO:0001819	synonymous_variant	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22805215G>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2667C>T	18.37:g.22805215G>A						ZNF521_ENST00000584787.1_Silent_p.D669D|ZNF521_ENST00000538137.2_Silent_p.D889D	p.D889D	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	2815	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		889					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	c.2667C>T	CCDS32806.1																																																																																				0.522	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		27	67	0	0	0	0.007291	0	27	67				
DDX60L	91351	broad.mit.edu	37	4	169341482	169341482	+	Missense_Mutation	SNP	G	G	A	rs541986385		TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr4:169341482G>A	ENST00000511577.1	-	18	2691	c.2444C>T	c.(2443-2445)aCg>aTg	p.T815M	DDX60L_ENST00000505890.1_Missense_Mutation_p.T815M|DDX60L_ENST00000260184.7_Missense_Mutation_p.T815M			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	815	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GGCAGGCAACGTTTTAGTAAA	0.363																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(2443-2445)aCg>aTg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							51.0	49.0	50.0					4																	169341482		1923	4162	6085	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169341482G>A	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.2444C>T	4.37:g.169341482G>A	ENSP00000422423:p.Thr815Met					DDX60L_ENST00000260184.7_Missense_Mutation_p.T815M|DDX60L_ENST00000505890.1_Missense_Mutation_p.T815M	p.T815M			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	18	2691	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	815			Helicase ATP-binding.		Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.2444C>T		.	.	.	.	.	.	.	.	.	.	G	7.689	0.690559	0.15039	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.35236	2.4;2.4;1.32;1.32	3.49	-6.98	0.01611	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.712228	0.10872	N	0.624794	T	0.16642	0.0400	L	0.34521	1.04	0.09310	N	1	B;B;B	0.28998	0.23;0.144;0.23	B;B;B	0.20767	0.031;0.031;0.031	T	0.11891	-1.0569	10	0.49607	T	0.09	.	0.9682	0.01410	0.2116:0.1605:0.3313:0.2966	.	815;815;815	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	M	815;815;815;543	ENSP00000260184:T815M;ENSP00000422423:T815M;ENSP00000422202:T815M;ENSP00000421026:T543M	ENSP00000260184:T815M	T	-	2	0	DDX60L	169578057	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-3.341000	0.00505	-1.413000	0.02027	-1.404000	0.01136	ACG		0.363	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		5	31	0	0	0	0.014758	0	5	31				
KRT12	3859	broad.mit.edu	37	17	39019389	39019389	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:39019389G>A	ENST00000251643.4	-	6	1325	c.1302C>T	c.(1300-1302)gaC>gaT	p.D434D	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	434	Coil 2.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	GGGCCTCCCCGTCCAGCAGGC	0.612																																						ENST00000251643.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15						c.(1300-1302)gaC>gaT		keratin 12							30.0	30.0	30.0					17																	39019389		2203	4293	6496	SO:0001819	synonymous_variant	3859				visual perception	intermediate filament	structural molecule activity	g.chr17:39019389G>A		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6414	protein-coding gene	gene with protein product	"""Meesmann corneal dystrophy"""	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.1302C>T	17.37:g.39019389G>A						RP5-1110E20.1_ENST00000579136.1_RNA	p.D434D	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN			6	1325	-		Breast(137;0.000301)	434			Coil 2.|Rod.		B2R9E0	Silent	SNP	ENST00000251643.4	37	c.1302C>T	CCDS11378.1																																																																																				0.612	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223		19	67	0	0	0	0.010504	0	19	67				
HHIPL1	84439	broad.mit.edu	37	14	100119154	100119154	+	Silent	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr14:100119154C>T	ENST00000330710.5	+	2	947	c.849C>T	c.(847-849)agC>agT	p.S283S	HHIPL1_ENST00000357223.2_Silent_p.S283S	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	283					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				TCCGCATCAGCGAGTTCAGAG	0.617																																						ENST00000330710.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15						c.(847-849)agC>agT		HHIP-like 1							43.0	39.0	40.0					14																	100119154		2203	4300	6503	SO:0001819	synonymous_variant	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100119154C>T	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.849C>T	14.37:g.100119154C>T						HHIPL1_ENST00000357223.2_Silent_p.S283S	p.S283S	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN			2	947	+		Melanoma(154;0.128)	283					A2RUF8|B2RN09|Q6UXX2	Silent	SNP	ENST00000330710.5	37	c.849C>T	CCDS45162.1																																																																																				0.617	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		18	53	0	0	0	0.012319	0	18	53				
PRG2	5553	broad.mit.edu	37	11	57155245	57155245	+	Missense_Mutation	SNP	C	C	T	rs374576971		TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr11:57155245C>T	ENST00000311862.5	-	5	665	c.592G>A	c.(592-594)Gtg>Atg	p.V198M	PRG2_ENST00000525955.1_Missense_Mutation_p.V198M|PRG2_ENST00000533605.1_Missense_Mutation_p.V187M	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	198	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Sargramostim(DB00020)	CACAGGGCCACGCAGTGACCA	0.617																																						ENST00000311862.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10						c.(592-594)Gtg>Atg		proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)		C	MET/VAL	1,4395		0,1,2197	20.0	20.0	20.0		592	4.3	0.8	11		20	1,8585		0,1,4292	no	missense	PRG2	NM_002728.4	21	0,2,6489	TT,TC,CC		0.0116,0.0227,0.0154		198/223	57155245	2,12980	2198	4293	6491	SO:0001583	missense	5553							g.chr11:57155245C>T	BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.592G>A	11.37:g.57155245C>T	ENSP00000312134:p.Val198Met					PRG2_ENST00000533605.1_Missense_Mutation_p.V187M|PRG2_ENST00000525955.1_Missense_Mutation_p.V198M	p.V198M	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	665	-								A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000311862.5	37	c.592G>A	CCDS7955.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.504019	0.64410	2.27E-4	1.16E-4	ENSG00000186652	ENST00000311862;ENST00000533605;ENST00000525955	T;T;T	0.23348	1.91;1.91;1.91	5.19	4.28	0.50868	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.190670	0.25929	N	0.027397	T	0.53948	0.1828	M	0.89163	3.01	0.24761	N	0.992927	D;D	0.89917	1.0;1.0	D;D	0.83275	0.989;0.996	T	0.52298	-0.8594	10	0.87932	D	0	.	9.5057	0.39044	0.0:0.9025:0.0:0.0975	.	187;198	A6XMW0;P13727	.;PRG2_HUMAN	M	198;187;198	ENSP00000312134:V198M;ENSP00000433231:V187M;ENSP00000433016:V198M	ENSP00000312134:V198M	V	-	1	0	PRG2	56911821	0.096000	0.21769	0.793000	0.32043	0.010000	0.07245	0.478000	0.22212	1.172000	0.42781	0.650000	0.86243	GTG		0.617	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392468.1	NM_002728		3	14	0	0	0	0.009096	0	3	14				
RSPO2	340419	broad.mit.edu	37	8	108913336	108913336	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr8:108913336G>T	ENST00000276659.5	-	6	1319	c.699C>A	c.(697-699)agC>agA	p.S233R	RSPO2_ENST00000378439.2_Missense_Mutation_p.S169R|RSPO2_ENST00000517781.1_Missense_Mutation_p.S169R|RSPO2_ENST00000517939.1_Missense_Mutation_p.S166R	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	233					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CTAGGAAGACGCTGTGTTGCT	0.433																																						ENST00000276659.5																		EIF3E/RSPO2(6)	0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28						c.(697-699)agC>agA		R-spondin 2							157.0	149.0	152.0					8																	108913336		2203	4300	6503	SO:0001583	missense	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:108913336G>T	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.699C>A	8.37:g.108913336G>T	ENSP00000276659:p.Ser233Arg					RSPO2_ENST00000517939.1_Missense_Mutation_p.S166R|RSPO2_ENST00000517781.1_Missense_Mutation_p.S169R|RSPO2_ENST00000378439.2_Missense_Mutation_p.S169R	p.S233R	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		6	1319	-			233					B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	c.699C>A	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608683	0.66558	.	.	ENSG00000147655	ENST00000517939;ENST00000517781;ENST00000378439;ENST00000276659;ENST00000521502	T;T;T;T;T	0.78003	-1.03;-1.03;-1.03;-1.03;-1.14	5.95	-7.15	0.01521	.	0.000000	0.85682	D	0.000000	T	0.74076	0.3669	N	0.08118	0	0.45946	D	0.998775	D;D	0.76494	0.998;0.999	D;D	0.79784	0.986;0.993	T	0.74717	-0.3571	10	0.51188	T	0.08	0.1535	22.6076	0.99974	0.1976:0.0:0.8024:0.0	.	233;169	Q6UXX9;Q6UXX9-3	RSPO2_HUMAN;.	R	166;169;169;233;166	ENSP00000428940:S166R;ENSP00000427937:S169R;ENSP00000367698:S169R;ENSP00000276659:S233R;ENSP00000428614:S166R	ENSP00000276659:S233R	S	-	3	2	RSPO2	108982512	0.123000	0.22298	0.873000	0.34254	0.805000	0.45488	-0.695000	0.05109	-1.267000	0.02443	-0.312000	0.09012	AGC		0.433	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		22	147	1	0	5.35356e-11	0.016522	5.71217e-11	22	147				
TTN	7273	broad.mit.edu	37	2	179427722	179427722	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:179427722C>T	ENST00000591111.1	-	276	78438	c.78214G>A	c.(78214-78216)Gaa>Aaa	p.E26072K	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E18773K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E27713K|TTN_ENST00000342992.6_Missense_Mutation_p.E25145K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E18648K|TTN_ENST00000342175.6_Missense_Mutation_p.E18840K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26072	Ig-like 126.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAATGCCTTCTGCCTTTTCC	0.438																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(83137-83139)Gaa>Aaa		titin							109.0	109.0	109.0					2																	179427722		1944	4131	6075	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179427722C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.78214G>A	2.37:g.179427722C>T	ENSP00000465570:p.Glu26072Lys					TTN_ENST00000460472.2_Missense_Mutation_p.E18648K|TTN_ENST00000342992.6_Missense_Mutation_p.E25145K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E18840K|TTN_ENST00000359218.5_Missense_Mutation_p.E18773K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E26072K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.E27713K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	83361	-			26072			Fibronectin type-III 102.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.83137G>A		.	.	.	.	.	.	.	.	.	.	C	16.75	3.210696	0.58343	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	6.04	6.04	0.98038	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41096	0.1144	L	0.33245	0.995	0.80722	D	1	B;B;B;B	0.31459	0.324;0.324;0.324;0.324	B;B;B;B	0.34536	0.185;0.185;0.185;0.185	T	0.29488	-1.0010	9	0.87932	D	0	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	18648;18773;18840;26072	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	25145;18648;18840;18773;18646	ENSP00000343764:E25145K;ENSP00000434586:E18648K;ENSP00000340554:E18840K;ENSP00000352154:E18773K	ENSP00000340554:E18840K	E	-	1	0	TTN	179135968	1.000000	0.71417	0.753000	0.31225	0.952000	0.60782	7.818000	0.86416	2.873000	0.98535	0.561000	0.74099	GAA		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		30	131	0	0	0	0.008361	0	30	131				
KLHL13	90293	broad.mit.edu	37	X	117033238	117033238	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chrX:117033238C>A	ENST00000262820.3	-	7	2510	c.1601G>T	c.(1600-1602)gGa>gTa	p.G534V	KLHL13_ENST00000469946.1_Missense_Mutation_p.G483V|KLHL13_ENST00000371878.1_Missense_Mutation_p.G483V|KLHL13_ENST00000541812.1_Missense_Mutation_p.G518V|KLHL13_ENST00000540167.1_Missense_Mutation_p.G518V|KLHL13_ENST00000371876.1_Missense_Mutation_p.G483V|KLHL13_ENST00000539496.1_Missense_Mutation_p.G537V|KLHL13_ENST00000371882.1_Missense_Mutation_p.G483V|KLHL13_ENST00000545703.1_Missense_Mutation_p.G492V	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	534					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GAGCCTTTCTCCCACTGTACA	0.458																																						ENST00000371876.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(1447-1449)gGa>gTa		kelch-like family member 13							249.0	236.0	241.0					X																	117033238		2203	4300	6503	SO:0001583	missense	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117033238C>A	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1601G>T	X.37:g.117033238C>A	ENSP00000262820:p.Gly534Val					KLHL13_ENST00000540167.1_Missense_Mutation_p.G518V|KLHL13_ENST00000371882.1_Missense_Mutation_p.G483V|KLHL13_ENST00000545703.1_Missense_Mutation_p.G492V|KLHL13_ENST00000539496.1_Missense_Mutation_p.G537V|KLHL13_ENST00000371878.1_Missense_Mutation_p.G483V|KLHL13_ENST00000262820.3_Missense_Mutation_p.G534V|KLHL13_ENST00000541812.1_Missense_Mutation_p.G518V|KLHL13_ENST00000469946.1_Missense_Mutation_p.G483V	p.G483V			Q9P2N7	KLH13_HUMAN			6	3869	-			534					B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	c.1448G>T	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747338	0.69533	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42;-1.42;-1.42;-1.42;-1.42;-1.42	5.25	5.25	0.73442	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.91868	0.7426	M	0.91717	3.235	0.80722	D	1	D;D;D;D	0.76494	0.997;0.982;0.996;0.999	D;D;D;D	0.79784	0.975;0.911;0.953;0.993	D	0.93418	0.6774	10	0.66056	D	0.02	.	17.9026	0.88909	0.0:1.0:0.0:0.0	.	518;537;528;534	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	V	483;483;483;483;518;518;537;534;492;483	ENSP00000360949:G483V;ENSP00000360943:G483V;ENSP00000360945:G483V;ENSP00000412640:G483V;ENSP00000444450:G518V;ENSP00000441029:G518V;ENSP00000443191:G537V;ENSP00000262820:G534V;ENSP00000440707:G492V;ENSP00000419803:G483V	ENSP00000262820:G534V	G	-	2	0	KLHL13	116917266	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.417000	0.82017	0.600000	0.82982	GGA		0.458	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		175	184	1	0	1.12187e-70	0.014410	1.28296e-70	175	184				
HIST1H1E	3008	broad.mit.edu	37	6	26156774	26156774	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr6:26156774G>A	ENST00000304218.3	+	1	216	c.156G>A	c.(154-156)aaG>aaA	p.K52K	HIST1H2BD_ENST00000289316.2_5'Flank|HIST1H2BD_ENST00000377777.4_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	52	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CCGCCTCCAAGGAGCGCAGCG	0.607																																						ENST00000304218.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						c.(154-156)aaG>aaA		histone cluster 1, H1e							25.0	29.0	28.0					6																	26156774		2203	4300	6503	SO:0001819	synonymous_variant	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26156774G>A	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.156G>A	6.37:g.26156774G>A							p.K52K	NM_005321.2	NP_005312.1	P10412	H14_HUMAN			1	216	+			52			H15.		Q4VB25	Silent	SNP	ENST00000304218.3	37	c.156G>A	CCDS4586.1																																																																																				0.607	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		7	56	0	0	0	0.001984	0	7	56				
NDST3	9348	broad.mit.edu	37	4	119059259	119059259	+	Silent	SNP	G	G	T	rs142162150		TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr4:119059259G>T	ENST00000296499.5	+	5	1678	c.1275G>T	c.(1273-1275)tcG>tcT	p.S425S	NDST3_ENST00000433996.2_Silent_p.S344S	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	425	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.S425S(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CTCACCATTCGGGCGTCTACC	0.473																																						ENST00000296499.5																			1	Substitution - coding silent(1)	p.S425S(1)	lung(1)	NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(1273-1275)tcG>tcT		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3							101.0	98.0	99.0					4																	119059259		2203	4300	6503	SO:0001819	synonymous_variant	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:119059259G>T	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1275G>T	4.37:g.119059259G>T						NDST3_ENST00000433996.2_Silent_p.S344S	p.S425S	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN			5	1678	+			425			Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Silent	SNP	ENST00000296499.5	37	c.1275G>T	CCDS3708.1																																																																																				0.473	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		32	119	1	0	6.03168e-27	0.021022	6.75912e-27	32	119				
CNTNAP1	8506	broad.mit.edu	37	17	40842782	40842782	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:40842782G>A	ENST00000264638.4	+	13	2098	c.1881G>A	c.(1879-1881)cgG>cgA	p.R627R	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	627	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CAGTTGTGCGGCATGACAGGC	0.587																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1879-1881)cgG>cgA		contactin associated protein 1							138.0	128.0	132.0					17																	40842782		2203	4300	6503	SO:0001819	synonymous_variant	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40842782G>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.1881G>A	17.37:g.40842782G>A						CTD-3193K9.3_ENST00000592440.1_RNA	p.R627R	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	13	2098	+		Breast(137;0.000143)	627			Fibrinogen C-terminal.			Silent	SNP	ENST00000264638.4	37	c.1881G>A	CCDS11436.1																																																																																				0.587	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		4	209	0	0	0	0.009096	0	4	209				
FAM196A	642938	broad.mit.edu	37	10	128974488	128974488	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr10:128974488C>A	ENST00000522781.1	-	4	727	c.172G>T	c.(172-174)Gag>Tag	p.E58*	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Nonsense_Mutation_p.E58*	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	58										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCCCTCTGCTCATTCTGTGCC	0.587																																						ENST00000522781.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(172-174)Gag>Tag		family with sequence similarity 196, member A							118.0	115.0	116.0					10																	128974488		2203	4300	6503	SO:0001587	stop_gained	642938							g.chr10:128974488C>A		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 141"""	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.172G>T	10.37:g.128974488C>A	ENSP00000429763:p.Glu58*					FAM196A_ENST00000424811.2_Nonsense_Mutation_p.E58*|DOCK1_ENST00000280333.6_Intron	p.E58*	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN			4	727	-			58					B2RNT4|B7ZME7	Nonsense_Mutation	SNP	ENST00000522781.1	37	c.172G>T	CCDS31312.1	.	.	.	.	.	.	.	.	.	.	C	43	10.170670	0.99352	.	.	ENSG00000188916	ENST00000522781;ENST00000424811	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.3815	0.94540	0.0:1.0:0.0:0.0	.	.	.	.	X	58	.	ENSP00000428730:E58X	E	-	1	0	FAM196A	128864478	1.000000	0.71417	0.986000	0.45419	0.861000	0.49209	5.785000	0.68998	2.655000	0.90218	0.462000	0.41574	GAG		0.587	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		56	187	1	0	4.00338e-15	0.014410	4.37624e-15	56	187				
LILRA4	23547	broad.mit.edu	37	19	54849916	54849916	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:54849916C>T	ENST00000291759.4	-	3	162	c.106G>A	c.(106-108)Ggt>Agt	p.G36S	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	36	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		ATCACGGGACCTGGCTCGGCC	0.572											OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000291759.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32						c.(106-108)Ggt>Agt		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4							73.0	69.0	71.0					19																	54849916		2203	4300	6503	SO:0001583	missense	23547					integral to membrane	receptor activity	g.chr19:54849916C>T	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.106G>A	19.37:g.54849916C>T	ENSP00000291759:p.Gly36Ser		OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1003		p.G36S	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	3	162	-	Ovarian(34;0.19)		36			Ig-like C2-type 1.		Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	c.106G>A	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	15.67	2.902992	0.52227	.	.	ENSG00000239961	ENST00000291759	T	0.08370	3.1	2.5	1.46	0.22682	Immunoglobulin-like fold (1);	0.395446	0.21528	N	0.073085	T	0.14874	0.0359	L	0.56199	1.76	0.09310	N	0.999999	P	0.45212	0.853	P	0.56278	0.795	T	0.03566	-1.1024	10	0.51188	T	0.08	.	5.3025	0.15785	0.0:0.8327:0.0:0.1673	.	36	P59901	LIRA4_HUMAN	S	36	ENSP00000291759:G36S	ENSP00000291759:G36S	G	-	1	0	LILRA4	59541728	0.022000	0.18835	0.277000	0.24703	0.025000	0.11179	0.882000	0.28186	0.610000	0.30035	0.557000	0.71058	GGT		0.572	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		37	93	0	0	0	0.021022	0	37	93				
PDZRN3	23024	broad.mit.edu	37	3	73433477	73433477	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr3:73433477G>A	ENST00000263666.4	-	10	2354	c.2240C>T	c.(2239-2241)cCg>cTg	p.P747L	PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Missense_Mutation_p.P469L|PDZRN3_ENST00000479530.1_Missense_Mutation_p.P464L|PDZRN3_ENST00000462146.2_Missense_Mutation_p.P404L|PDZRN3_ENST00000466780.1_Missense_Mutation_p.P404L	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	747					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGATTTCTCCGGGAGCTCGGT	0.612																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2239-2241)cCg>cTg		PDZ domain containing ring finger 3							43.0	40.0	41.0					3																	73433477		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433477G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2240C>T	3.37:g.73433477G>A	ENSP00000263666:p.Pro747Leu					PDZRN3_ENST00000535920.1_Missense_Mutation_p.P469L|PDZRN3_ENST00000466780.1_Missense_Mutation_p.P404L|PDZRN3_ENST00000479530.1_Missense_Mutation_p.P464L|PDZRN3_ENST00000462146.2_Missense_Mutation_p.P404L	p.P747L	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2354	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	747					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2240C>T	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396007	0.62177	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000492909	T;T;T;T;T;T	0.14022	2.54;3.26;3.18;3.18;3.28;3.09	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.39358	0.1075	M	0.73962	2.25	0.80722	D	1	P;D;P;D	0.89917	0.933;1.0;0.57;1.0	P;D;B;D	0.91635	0.687;0.999;0.125;0.999	T	0.11036	-1.0604	10	0.40728	T	0.16	.	18.2651	0.90050	0.0:0.0:1.0:0.0	.	469;464;464;747	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	L	747;469;404;404;464;445	ENSP00000263666:P747L;ENSP00000442026:P469L;ENSP00000418168:P404L;ENSP00000418484:P404L;ENSP00000418624:P464L;ENSP00000419250:P445L	ENSP00000263666:P747L	P	-	2	0	PDZRN3	73516167	1.000000	0.71417	0.977000	0.42913	0.980000	0.70556	5.493000	0.66899	2.393000	0.81446	0.591000	0.81541	CCG		0.612	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		11	46	0	0	0	0.010729	0	11	46				
ZC3H11A	9877	broad.mit.edu	37	1	203821361	203821361	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:203821361G>A	ENST00000545588.1	+	17	6094	c.2267G>A	c.(2266-2268)cGa>cAa	p.R756Q	ZC3H11A_ENST00000367212.3_Missense_Mutation_p.R756Q|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.R756Q|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.R756Q|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.R756Q	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	756					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R756L(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AAAACTCGCCGACTCAGCTCT	0.507																																						ENST00000545588.1																			1	Substitution - Missense(1)	p.R756L(1)	lung(1)	central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2266-2268)cGa>cAa		zinc finger CCCH-type containing 11A							27.0	30.0	29.0					1																	203821361		2202	4295	6497	SO:0001583	missense	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203821361G>A		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.2267G>A	1.37:g.203821361G>A	ENSP00000438527:p.Arg756Gln					ZC3H11A_ENST00000367214.1_Missense_Mutation_p.R756Q|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.R756Q|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.R756Q|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.R756Q	p.R756Q	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		17	6094	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		756					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	c.2267G>A	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	G	8.194	0.796754	0.16327	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67	5.56	5.56	0.83823	.	0.058092	0.64402	D	0.000004	T	0.33702	0.0872	L	0.43554	1.36	0.41939	D	0.990602	P	0.49358	0.923	B	0.32342	0.144	T	0.21109	-1.0255	10	0.25751	T	0.34	-22.1547	13.8881	0.63721	0.0:0.0:0.8469:0.1531	.	756	O75152	ZC11A_HUMAN	Q	756;702;756;756;756;756	ENSP00000356183:R756Q;ENSP00000356181:R756Q;ENSP00000333253:R756Q;ENSP00000438527:R756Q;ENSP00000356179:R756Q	ENSP00000333253:R756Q	R	+	2	0	ZC3H11A	202087984	1.000000	0.71417	0.995000	0.50966	0.152000	0.21847	4.525000	0.60559	2.619000	0.88677	0.557000	0.71058	CGA		0.507	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		36	83	0	0	0	0.017118	0	36	83				
CCDC183	84960	broad.mit.edu	37	9	139701274	139701274	+	Silent	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr9:139701274C>T	ENST00000338005.6	+	12	1379	c.1344C>T	c.(1342-1344)ctC>ctT	p.L448L	KIAA1984-AS1_ENST00000414656.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA|RABL6_ENST00000357466.2_5'Flank|RABL6_ENST00000371663.4_5'Flank|RABL6_ENST00000371671.4_5'Flank|RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000311502.7_5'Flank	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		448										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		AGGGGAAGCTCACGTACCTGG	0.617																																						ENST00000338005.6																			0				biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.(1342-1344)ctC>ctT		KIAA1984							43.0	48.0	46.0					9																	139701274		2150	4253	6403	SO:0001819	synonymous_variant	84960							g.chr9:139701274C>T																												ENST00000338005.6:c.1344C>T	9.37:g.139701274C>T						KIAA1984-AS1_ENST00000414656.1_RNA	p.L448L	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)	12	1379	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)	448					B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Silent	SNP	ENST00000338005.6	37	c.1344C>T	CCDS43906.1																																																																																				0.617	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1			11	50	0	0	0	0.008291	0	11	50				
MAD1L1	8379	broad.mit.edu	37	7	2265120	2265120	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr7:2265120C>T	ENST00000406869.1	-	4	773	c.216G>A	c.(214-216)atG>atA	p.M72I	MAD1L1_ENST00000399654.2_Missense_Mutation_p.M72I|MAD1L1_ENST00000265854.7_Missense_Mutation_p.M72I|MAD1L1_ENST00000402746.1_Intron			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	72					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GCTCCATCTGCATTTTCTCCC	0.587																																						ENST00000406869.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(214-216)atG>atA		MAD1 mitotic arrest deficient-like 1 (yeast)							105.0	111.0	109.0					7																	2265120		2109	4227	6336	SO:0001583	missense	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:2265120C>T	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.216G>A	7.37:g.2265120C>T	ENSP00000385334:p.Met72Ile					MAD1L1_ENST00000265854.7_Missense_Mutation_p.M72I|MAD1L1_ENST00000399654.2_Missense_Mutation_p.M72I|MAD1L1_ENST00000402746.1_Intron	p.M72I			Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	4	773	-		Ovarian(82;0.0272)	72					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	c.216G>A	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.406161	0.42715	.	.	ENSG00000002822	ENST00000399654;ENST00000406869;ENST00000265854;ENST00000429625;ENST00000429779	T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9	4.85	2.66	0.31614	.	0.208590	0.49305	D	0.000152	T	0.19685	0.0473	L	0.38531	1.155	0.27162	N	0.961145	B;B	0.06786	0.0;0.001	B;B	0.10450	0.001;0.005	T	0.15037	-1.0451	10	0.37606	T	0.19	-31.9557	11.4219	0.49987	0.0:0.822:0.0:0.178	.	1;72	C9K086;Q9Y6D9	.;MD1L1_HUMAN	I	72;72;72;1;72	ENSP00000382562:M72I;ENSP00000385334:M72I;ENSP00000265854:M72I;ENSP00000413139:M1I;ENSP00000395457:M72I	ENSP00000265854:M72I	M	-	3	0	MAD1L1	2231646	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.827000	0.27421	1.044000	0.40200	0.650000	0.86243	ATG		0.587	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		38	93	0	0	0	0.025465	0	38	93				
PLEC	5339	broad.mit.edu	37	8	144991583	144991583	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr8:144991583C>T	ENST00000322810.4	-	32	12986	c.12817G>A	c.(12817-12819)Gtg>Atg	p.V4273M	PLEC_ENST00000354589.3_Missense_Mutation_p.V4136M|PLEC_ENST00000357649.2_Missense_Mutation_p.V4140M|PLEC_ENST00000527096.1_Missense_Mutation_p.V4159M|PLEC_ENST00000356346.3_Missense_Mutation_p.V4122M|PLEC_ENST00000436759.2_Missense_Mutation_p.V4163M|PLEC_ENST00000354958.2_Missense_Mutation_p.V4114M|PLEC_ENST00000345136.3_Missense_Mutation_p.V4136M|PLEC_ENST00000398774.2_Missense_Mutation_p.V4104M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4273	Binding to intermediate filaments. {ECO:0000250}.|Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTTGCGCACGGAGGACTTG	0.617																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(12817-12819)Gtg>Atg		plectin							64.0	70.0	68.0					8																	144991583		2105	4220	6325	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144991583C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12817G>A	8.37:g.144991583C>T	ENSP00000323856:p.Val4273Met					PLEC_ENST00000345136.3_Missense_Mutation_p.V4136M|PLEC_ENST00000357649.2_Missense_Mutation_p.V4140M|PLEC_ENST00000356346.3_Missense_Mutation_p.V4122M|PLEC_ENST00000527096.1_Missense_Mutation_p.V4159M|PLEC_ENST00000354958.2_Missense_Mutation_p.V4114M|PLEC_ENST00000436759.2_Missense_Mutation_p.V4163M|PLEC_ENST00000398774.2_Missense_Mutation_p.V4104M|PLEC_ENST00000354589.3_Missense_Mutation_p.V4136M	p.V4273M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	12986	-			4273			Binding to intermediate filaments (By similarity).|Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.12817G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068427	0.36470	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.77098	-1.04;-1.04;-1.07;-1.07;-1.05;-1.04;-1.04;-1.04;-1.04	5.08	5.08	0.68730	.	0.000000	0.56097	U	0.000035	T	0.81531	0.4842	N	0.22421	0.69	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.998;0.999;0.999;0.999;0.999	T	0.82544	-0.0404	10	0.48119	T	0.1	.	18.2584	0.90025	0.0:1.0:0.0:0.0	.	4163;4122;4114;4273;4104;4136;4140;4136	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	M	4136;4140;4136;4104;4273;4114;4122;4163;4159	ENSP00000344848:V4136M;ENSP00000350277:V4140M;ENSP00000346602:V4136M;ENSP00000381756:V4104M;ENSP00000323856:V4273M;ENSP00000347044:V4114M;ENSP00000348702:V4122M;ENSP00000388180:V4163M;ENSP00000434583:V4159M	ENSP00000323856:V4273M	V	-	1	0	PLEC	145063571	1.000000	0.71417	0.997000	0.53966	0.795000	0.44927	5.867000	0.69597	2.644000	0.89710	0.498000	0.49722	GTG		0.617	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		25	106	0	0	0	0.027356	0	25	106				
DNMT3A	1788	broad.mit.edu	37	2	25467435	25467435	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:25467435G>A	ENST00000264709.3	-	14	1978	c.1641C>T	c.(1639-1641)ctC>ctT	p.L547L	DNMT3A_ENST00000402667.1_Silent_p.L324L|DNMT3A_ENST00000380746.4_Silent_p.L358L|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000321117.5_Silent_p.L547L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	547	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCGCACATGAGCACCTCAC	0.632			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(1639-1641)ctC>ctT		DNA (cytosine-5-)-methyltransferase 3 alpha							122.0	104.0	110.0					2																	25467435		2203	4300	6503	SO:0001819	synonymous_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25467435G>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1641C>T	2.37:g.25467435G>A						DNMT3A_ENST00000321117.5_Silent_p.L547L|DNMT3A_ENST00000380746.4_Silent_p.L358L|DNMT3A_ENST00000402667.1_Silent_p.L324L	p.L547L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			14	1978	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		547			ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	ENST00000264709.3	37	c.1641C>T	CCDS33157.1																																																																																				0.632	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		15	49	0	0	0	0.004990	0	15	49				
TMTC3	160418	broad.mit.edu	37	12	88589182	88589182	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:88589182C>G	ENST00000266712.6	+	14	2721	c.2501C>G	c.(2500-2502)tCa>tGa	p.S834*		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	835					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AGTAAGATTTCAAGTGTGGAA	0.338																																						ENST00000266712.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						c.(2500-2502)tCa>tGa		transmembrane and tetratricopeptide repeat containing 3							87.0	94.0	92.0					12																	88589182		2203	4299	6502	SO:0001587	stop_gained	160418					integral to membrane	binding	g.chr12:88589182C>G		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.2501C>G	12.37:g.88589182C>G	ENSP00000266712:p.Ser834*						p.S834*	NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN			14	2721	+			835					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Nonsense_Mutation	SNP	ENST00000266712.6	37	c.2501C>G	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387529	0.82902	.	.	ENSG00000139324	ENST00000266712	.	.	.	5.69	4.79	0.61399	.	0.912723	0.09496	N	0.794270	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-2.1875	11.3452	0.49556	0.0:0.8049:0.1255:0.0696	.	.	.	.	X	834	.	ENSP00000266712:S834X	S	+	2	0	TMTC3	87113313	0.010000	0.17322	0.162000	0.22713	0.018000	0.09664	1.423000	0.34837	2.685000	0.91497	0.591000	0.81541	TCA		0.338	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		97	120	0	0	0	0.014410	0	97	120				
ERAP1	51752	broad.mit.edu	37	5	96136692	96136692	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:96136692G>A	ENST00000443439.2	-	3	602	c.536C>T	c.(535-537)tCa>tTa	p.S179L	ERAP1_ENST00000296754.3_Missense_Mutation_p.S179L	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	179					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		AAATTGTGTTGATGCTAGTAT	0.378																																						ENST00000296754.3																			0				endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19						c.(535-537)tCa>tTa		endoplasmic reticulum aminopeptidase 1							92.0	88.0	90.0					5																	96136692		2203	4300	6503	SO:0001583	missense	51752				angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding	g.chr5:96136692G>A	AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"""aminopeptidase regulator of TNFR1 shedding"", ""adipocyte-derived leucine aminopeptidase"", ""puromycin-insensitive leucyl-specific aminopeptidase"""	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.536C>T	5.37:g.96136692G>A	ENSP00000406304:p.Ser179Leu					ERAP1_ENST00000443439.2_Missense_Mutation_p.S179L	p.S179L	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)	3	793	-		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)	179					O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Missense_Mutation	SNP	ENST00000443439.2	37	c.536C>T	CCDS47250.1	.	.	.	.	.	.	.	.	.	.	G	34	5.331858	0.95733	.	.	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384	T;T	0.04049	3.72;3.72	5.72	5.72	0.89469	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.122595	0.56097	D	0.000023	T	0.15652	0.0377	M	0.64404	1.975	0.53688	D	0.999974	P;P	0.41366	0.675;0.747	P;P	0.50708	0.648;0.46	T	0.00021	-1.2347	10	0.66056	D	0.02	.	19.4842	0.95022	0.0:0.0:1.0:0.0	.	179;179	Q9NZ08;Q9NZ08-2	ERAP1_HUMAN;.	L	179	ENSP00000296754:S179L;ENSP00000406304:S179L	ENSP00000296754:S179L	S	-	2	0	ERAP1	96162448	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.898000	0.87363	2.689000	0.91719	0.655000	0.94253	TCA		0.378	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442		23	95	0	0	0	0.014323	0	23	95				
SHPRH	257218	broad.mit.edu	37	6	146271470	146271470	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr6:146271470C>G	ENST00000367505.2	-	4	1176	c.912G>C	c.(910-912)ttG>ttC	p.L304F	SHPRH_ENST00000438092.2_Missense_Mutation_p.L304F|SHPRH_ENST00000275233.7_Missense_Mutation_p.L304F|SHPRH_ENST00000367503.3_Missense_Mutation_p.L304F			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	304					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GGTAGGGTCTCAACACAGGGA	0.433																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(910-912)ttG>ttC		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							208.0	205.0	206.0					6																	146271470		1952	4158	6110	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146271470C>G	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.912G>C	6.37:g.146271470C>G	ENSP00000356475:p.Leu304Phe					SHPRH_ENST00000275233.7_Missense_Mutation_p.L304F|SHPRH_ENST00000367505.2_Missense_Mutation_p.L304F|SHPRH_ENST00000438092.2_Missense_Mutation_p.L304F	p.L304F	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	4	1310	-		Ovarian(120;0.0365)	304					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.912G>C	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579431	0.65878	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	D;D;D;D	0.96232	-3.95;-3.95;-3.95;-3.95	5.95	5.09	0.68999	DEAD-like helicase (1);	0.000000	0.56097	D	0.000026	D	0.94876	0.8344	L	0.34521	1.04	0.48236	D	0.999613	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	D	0.95292	0.8396	10	0.72032	D	0.01	-10.5421	7.1182	0.25429	0.0:0.6771:0.1327:0.1903	.	193;304;304;193	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	F	304;304;304;304;193	ENSP00000356475:L304F;ENSP00000356473:L304F;ENSP00000412797:L304F;ENSP00000275233:L304F	ENSP00000275233:L304F	L	-	3	2	SHPRH	146313163	0.999000	0.42202	1.000000	0.80357	0.979000	0.70002	0.696000	0.25541	1.516000	0.48900	0.650000	0.86243	TTG		0.433	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		3	218	0	0	0	0.009096	0	3	218				
TNFRSF1B	7133	broad.mit.edu	37	1	12251958	12251958	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:12251958G>A	ENST00000376259.3	+	4	524	c.435G>A	c.(433-435)ccG>ccA	p.P145P	MIR4632_ENST00000584158.1_RNA|TNFRSF1B_ENST00000492361.1_3'UTR|TNFRSF1B_ENST00000536782.1_Silent_p.P145P	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	145					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	AGTGCCGCCCGGGCTTCGGCG	0.687																																						ENST00000376259.3																			0				central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(433-435)ccG>ccA		tumor necrosis factor receptor superfamily, member 1B	Etanercept(DB00005)|Infliximab(DB00065)						16.0	19.0	18.0					1																	12251958		2198	4286	6484	SO:0001819	synonymous_variant	7133				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity	g.chr1:12251958G>A	M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.435G>A	1.37:g.12251958G>A						TNFRSF1B_ENST00000492361.1_3'UTR|TNFRSF1B_ENST00000536782.1_Silent_p.P145P	p.P145P	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	4	524	+	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	145					B1AJZ3|Q16042|Q6YI29|Q9UIH1	Silent	SNP	ENST00000376259.3	37	c.435G>A	CCDS145.1																																																																																				0.687	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	NM_001066		30	19	0	0	0	0.013726	0	30	19				
ADAR	103	broad.mit.edu	37	1	154574600	154574600	+	Missense_Mutation	SNP	T	T	C	rs201331183	byFrequency	TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:154574600T>C	ENST00000368474.4	-	2	717	c.518A>G	c.(517-519)aAt>aGt	p.N173S	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.N216S	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	173					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TAAAACTCGATTGATTTCTTT	0.498													T|||	3	0.000599042	0.0008	0.0	5008	,	,		20625	0.0		0.002	False		,,,				2504	0.0					ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(517-519)aAt>aGt		adenosine deaminase, RNA-specific							142.0	146.0	144.0					1																	154574600		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154574600T>C	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.518A>G	1.37:g.154574600T>C	ENSP00000357459:p.Asn173Ser					ADAR_ENST00000471068.1_5'UTR|ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.N216S	p.N173S	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	2	717	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		173					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.518A>G	CCDS1071.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	T	19.34	3.809698	0.70797	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	D;D;D	0.85339	-1.97;-1.97;-1.97	4.62	3.49	0.39957	Winged helix-turn-helix transcription repressor DNA-binding (1);Double-stranded RNA-specific adenosine deaminase (DRADA) (3);	0.231448	0.41938	D	0.000795	D	0.89853	0.6835	M	0.85945	2.785	0.49915	D	0.999833	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.998;0.999;0.992	D	0.90525	0.4491	10	0.87932	D	0	-18.7976	9.9425	0.41589	0.0:0.0818:0.0:0.9182	.	173;173;173	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	S	216;173;168	ENSP00000292205:N216S;ENSP00000357459:N173S;ENSP00000431794:N168S	ENSP00000292205:N216S	N	-	2	0	ADAR	152841224	1.000000	0.71417	0.807000	0.32361	0.725000	0.41563	6.605000	0.74155	0.901000	0.36495	0.402000	0.26972	AAT		0.498	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		81	275	0	0	0	0.014410	0	81	275				
FCRLB	127943	broad.mit.edu	37	1	161693366	161693366	+	Missense_Mutation	SNP	C	C	T	rs201479109		TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:161693366C>T	ENST00000367948.2	+	5	477	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W	FCRLB_ENST00000367944.3_Missense_Mutation_p.R81W|FCRLB_ENST00000367946.3_Missense_Mutation_p.R88W|FCRLB_ENST00000336830.5_Missense_Mutation_p.R88W|FCRLB_ENST00000392158.1_Missense_Mutation_p.R88W|FCRLB_ENST00000367945.1_Missense_Mutation_p.R81W			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	88	Ig-like C2-type 1.				negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			ATGCCAGACACGGGGAGCACC	0.577																																						ENST00000367948.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(262-264)Cgg>Tgg		Fc receptor-like B							80.0	71.0	74.0					1																	161693366		2203	4300	6503	SO:0001583	missense	127943					endoplasmic reticulum		g.chr1:161693366C>T	AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26431	protein-coding gene	gene with protein product		609251	"""Fc receptor-like and mucin-like 2"""	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.262C>T	1.37:g.161693366C>T	ENSP00000356925:p.Arg88Trp					FCRLB_ENST00000336830.5_Missense_Mutation_p.R88W|FCRLB_ENST00000367945.1_Missense_Mutation_p.R81W|FCRLB_ENST00000392158.1_Missense_Mutation_p.R88W|FCRLB_ENST00000367944.3_Missense_Mutation_p.R81W|FCRLB_ENST00000367946.3_Missense_Mutation_p.R88W	p.R88W			Q6BAA4	FCRLB_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		5	477	+	all_hematologic(112;0.0359)		88			Ig-like C2-type 1.		A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Missense_Mutation	SNP	ENST00000367948.2	37	c.262C>T	CCDS30927.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131802	0.77662	.	.	ENSG00000162746	ENST00000367948;ENST00000367946;ENST00000367945;ENST00000336830;ENST00000367944;ENST00000392158	T;T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55;2.55	5.61	4.7	0.59300	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47455	D	0.000221	T	0.20700	0.0498	L	0.55481	1.735	0.37849	D	0.929329	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.967;0.999;0.978;0.999;0.999	T	0.01771	-1.1277	10	0.66056	D	0.02	.	11.9168	0.52769	0.1742:0.8258:0.0:0.0	.	81;81;88;88;88	Q6BAA4-3;Q6BAA4-5;Q6BAA4-2;Q6BAA4-4;Q6BAA4	.;.;.;.;FCRLB_HUMAN	W	88;88;81;88;81;88	ENSP00000356925:R88W;ENSP00000356923:R88W;ENSP00000356922:R81W;ENSP00000338598:R88W;ENSP00000356921:R81W;ENSP00000375999:R88W	ENSP00000338598:R88W	R	+	1	2	FCRLB	159959990	0.830000	0.29337	0.998000	0.56505	0.984000	0.73092	0.449000	0.21744	1.348000	0.45733	0.655000	0.94253	CGG		0.577	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1	NM_152378		30	65	0	0	0	0.007291	0	30	65				
DYNC2H1	79659	broad.mit.edu	37	11	102988581	102988581	+	Missense_Mutation	SNP	C	C	T	rs397514637	byFrequency	TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr11:102988581C>T	ENST00000375735.2	+	6	1132	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R330C|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.R330C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	330	Stem. {ECO:0000250}.		R -> C (in SRTD3). {ECO:0000269|PubMed:22499340, ECO:0000269|PubMed:23456818}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ACTTGGCAAACGCCTTGAAGA	0.333													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17271	0.001		0.0	False		,,,				2504	0.0					ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(988-990)Cgc>Tgc		dynein, cytoplasmic 2, heavy chain 1							57.0	55.0	56.0					11																	102988581		1852	4103	5955	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:102988581C>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.988C>T	11.37:g.102988581C>T	ENSP00000364887:p.Arg330Cys					DYNC2H1_ENST00000334267.7_Missense_Mutation_p.R330C|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R330C	p.R330C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	6	1132	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	330			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.988C>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129453	0.77549	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.66099	-0.19;-0.19;-0.19	5.26	5.26	0.73747	Dynein heavy chain, domain-1 (1);	4.029100	0.02609	U	0.101944	D	0.85687	0.5754	M	0.85859	2.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.993	T	0.71619	-0.4538	10	0.87932	D	0	.	18.8962	0.92424	0.0:1.0:0.0:0.0	.	330;330;330	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	C	330	ENSP00000364887:R330C;ENSP00000334021:R330C;ENSP00000381167:R330C	ENSP00000334021:R330C	R	+	1	0	DYNC2H1	102493791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.844000	0.62846	2.439000	0.82584	0.650000	0.86243	CGC		0.333	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		9	38	0	0	0	0.004482	0	9	38				
LRRC47	57470	broad.mit.edu	37	1	3703592	3703592	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:3703592C>G	ENST00000378251.1	-	2	925	c.898G>C	c.(898-900)Gac>Cac	p.D300H	RP1-286D6.5_ENST00000607459.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	300							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		tctcccacgtcctgctcctcc	0.657																																						ENST00000378251.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(898-900)Gac>Cac		leucine rich repeat containing 47							92.0	59.0	70.0					1																	3703592		2202	4299	6501	SO:0001583	missense	57470				translation		phenylalanine-tRNA ligase activity|RNA binding	g.chr1:3703592C>G	AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.898G>C	1.37:g.3703592C>G	ENSP00000367498:p.Asp300His						p.D300H	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)	2	925	-	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	300					Q9ULN5	Missense_Mutation	SNP	ENST00000378251.1	37	c.898G>C	CCDS51.1	.	.	.	.	.	.	.	.	.	.	C	9.984	1.228897	0.22542	.	.	ENSG00000130764	ENST00000378251	T	0.41400	1.0	4.93	4.01	0.46588	.	0.719720	0.13678	N	0.370392	T	0.32763	0.0840	L	0.29908	0.895	0.27457	N	0.953277	P	0.38642	0.641	B	0.34722	0.188	T	0.15665	-1.0429	10	0.66056	D	0.02	-2.2285	13.9309	0.63994	0.1527:0.8473:0.0:0.0	.	300	Q8N1G4	LRC47_HUMAN	H	300	ENSP00000367498:D300H	ENSP00000367498:D300H	D	-	1	0	LRRC47	3693452	0.658000	0.27402	0.007000	0.13788	0.016000	0.09150	3.567000	0.53813	1.058000	0.40530	0.650000	0.86243	GAC		0.657	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1	NM_020710		17	14	0	0	0	0.006122	0	17	14				
PHKB	5257	broad.mit.edu	37	16	47694703	47694703	+	Silent	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr16:47694703C>G	ENST00000323584.5	+	22	2193	c.2169C>G	c.(2167-2169)ccC>ccG	p.P723P	PHKB_ENST00000566044.1_Silent_p.P716P|PHKB_ENST00000299167.8_Silent_p.P723P|PHKB_ENST00000455779.1_Silent_p.P716P	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	723					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				AGGACAAACCCACCCACGAAA	0.488																																						ENST00000455779.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41						c.(2146-2148)ccC>ccG		phosphorylase kinase, beta							98.0	88.0	92.0					16																	47694703		2201	4300	6501	SO:0001819	synonymous_variant	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47694703C>G		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.2169C>G	16.37:g.47694703C>G						PHKB_ENST00000323584.5_Silent_p.P723P|PHKB_ENST00000566044.1_Silent_p.P716P|PHKB_ENST00000299167.8_Silent_p.P723P	p.P716P			Q93100	KPBB_HUMAN			23	2333	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	723					Q8N4T5	Silent	SNP	ENST00000323584.5	37	c.2148C>G	CCDS10729.1																																																																																				0.488	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			28	137	0	0	0	0.027356	0	28	137				
ZNF283	284349	broad.mit.edu	37	19	44341279	44341279	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:44341279G>A	ENST00000324461.7	+	6	582	c.285G>A	c.(283-285)agG>agA	p.R95R	ZNF283_ENST00000310738.8_Silent_p.R59R|ZNF283_ENST00000586976.1_3'UTR|ZNF283_ENST00000590950.1_Silent_p.R70R|ZNF283_ENST00000588797.1_Intron|ZNF283_ENST00000593164.1_Silent_p.R70R|ZNF283_ENST00000593268.1_Silent_p.R95R	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	95	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				CTGCTCAGAGGGACTTGTACG	0.463																																						ENST00000324461.7																			0				endometrium(1)|large_intestine(3)|lung(4)	8						c.(283-285)agG>agA		zinc finger protein 283							165.0	181.0	175.0					19																	44341279		2203	4300	6503	SO:0001819	synonymous_variant	284349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44341279G>A	AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.285G>A	19.37:g.44341279G>A						ZNF283_ENST00000310738.8_Silent_p.R59R|ZNF283_ENST00000593164.1_Silent_p.R70R|ZNF283_ENST00000590950.1_Silent_p.R70R|ZNF283_ENST00000588797.1_Intron|ZNF283_ENST00000586976.1_3'UTR|ZNF283_ENST00000593268.1_Silent_p.R95R	p.R95R	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN			6	582	+		Prostate(69;0.0352)	95			KRAB.		B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Silent	SNP	ENST00000324461.7	37	c.285G>A	CCDS46097.1																																																																																				0.463	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845		39	86	0	0	0	0.023175	0	39	86				
F2RL1	2150	broad.mit.edu	37	5	76128686	76128686	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:76128686T>C	ENST00000296677.4	+	2	460	c.254T>C	c.(253-255)gTg>gCg	p.V85A		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	85					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		TACACAATTGTGTTTGTGGTG	0.463																																						ENST00000296677.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13						c.(253-255)gTg>gCg		coagulation factor II (thrombin) receptor-like 1							205.0	186.0	193.0					5																	76128686		2203	4300	6503	SO:0001583	missense	2150				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	g.chr5:76128686T>C	BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"""GPCR / Class A : Protease activated receptors"""	3538	protein-coding gene	gene with protein product	"""proteinase-activated receptor-2"""	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.254T>C	5.37:g.76128686T>C	ENSP00000296677:p.Val85Ala						p.V85A	NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)	2	460	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	85					Q13317|Q13346|Q53XJ8	Missense_Mutation	SNP	ENST00000296677.4	37	c.254T>C	CCDS4033.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.249314	0.59103	.	.	ENSG00000164251	ENST00000296677	T	0.39997	1.05	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.64724	0.2624	M	0.75777	2.31	0.80722	D	1	D	0.71674	0.998	D	0.69307	0.963	T	0.68918	-0.5282	10	0.87932	D	0	-18.3955	16.0449	0.80714	0.0:0.0:0.0:1.0	.	85	P55085	PAR2_HUMAN	A	85	ENSP00000296677:V85A	ENSP00000296677:V85A	V	+	2	0	F2RL1	76164442	1.000000	0.71417	0.300000	0.25030	0.164000	0.22412	7.983000	0.88140	2.188000	0.69820	0.533000	0.62120	GTG		0.463	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2			59	189	0	0	0	0.014410	0	59	189				
CYP2R1	120227	broad.mit.edu	37	11	14902248	14902248	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr11:14902248C>G	ENST00000334636.5	-	3	480	c.434G>C	c.(433-435)cGa>cCa	p.R145P	CYP2R1_ENST00000526489.1_5'UTR|CYP2R1_ENST00000532378.1_Intron	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	145					small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	TCCAAAATATCGAAAACTGTT	0.323																																					NSCLC(173;1584 2058 26117 29365 41534)	ENST00000334636.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(433-435)cGa>cCa		cytochrome P450, family 2, subfamily R, polypeptide 1	Cholecalciferol(DB00169)|Ergocalciferol(DB00153)						43.0	45.0	45.0					11																	14902248		2198	4293	6491	SO:0001583	missense	120227				hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity	g.chr11:14902248C>G	AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104		"""Cytochrome P450s"""	20580	protein-coding gene	gene with protein product		608713				12464240, 12867411	Standard	XM_005252788		Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.434G>C	11.37:g.14902248C>G	ENSP00000334592:p.Arg145Pro					CYP2R1_ENST00000526489.1_5'UTR|CYP2R1_ENST00000532378.1_Intron	p.R145P	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN			3	480	-			145					Q2M3H3|Q5RT65	Missense_Mutation	SNP	ENST00000334636.5	37	c.434G>C	CCDS7818.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785447	0.70337	.	.	ENSG00000186104	ENST00000334636	T	0.80033	-1.33	5.9	4.98	0.66077	.	0.047287	0.85682	D	0.000000	D	0.91855	0.7422	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	0.98;1.0	P;D	0.76071	0.853;0.987	D	0.93699	0.7014	10	0.87932	D	0	.	14.1544	0.65407	0.0:0.9274:0.0:0.0726	.	30;145	E9PS56;Q6VVX0	.;CP2R1_HUMAN	P	145	ENSP00000334592:R145P	ENSP00000334592:R145P	R	-	2	0	CYP2R1	14858824	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	4.958000	0.63660	1.465000	0.48006	0.561000	0.74099	CGA		0.323	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386985.1	NM_024514		12	58	0	0	0	0.024245	0	12	58				
ERBB4	2066	broad.mit.edu	37	2	212488710	212488710	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:212488710C>G	ENST00000342788.4	-	18	2449	c.2139G>C	c.(2137-2139)ttG>ttC	p.L713F	ERBB4_ENST00000436443.1_Missense_Mutation_p.L713F|ERBB4_ENST00000402597.1_Missense_Mutation_p.L703F	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	713					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CAGTTTCTTTCAAAATACGAA	0.403										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(2137-2139)ttG>ttC		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							100.0	97.0	98.0					2																	212488710		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212488710C>G	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2139G>C	2.37:g.212488710C>G	ENSP00000342235:p.Leu713Phe	TSP Lung(8;0.080)				ERBB4_ENST00000402597.1_Missense_Mutation_p.L703F|ERBB4_ENST00000436443.1_Missense_Mutation_p.L713F	p.L713F	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	18	2449	-		Renal(323;0.06)|Lung NSC(271;0.197)	713					B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.2139G>C	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.79|17.79	3.476343|3.476343	0.63737|0.63737	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	T;T;T|.	0.76968|.	-1.06;-1.06;-1.04|.	5.74|5.74	4.68|4.68	0.58851|0.58851	Protein kinase-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.59797|.	0.2220|.	L|L	0.49126|0.49126	1.545|1.545	0.58432|0.58432	D|D	0.999993|0.999993	D;D;D;D|.	0.89917|.	1.0;0.983;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.996;0.926;0.999;0.999|.	T|.	0.55405|.	-0.8146|.	10|.	0.35671|.	T|.	0.21|.	.|.	10.3596|10.3596	0.43984|0.43984	0.0:0.7995:0.0:0.2005|0.0:0.7995:0.0:0.2005	.|.	703;703;713;713|.	Q15303-4;Q15303-2;Q15303-3;Q15303|.	.;.;.;ERBB4_HUMAN|.	F|S	713;713;703|703	ENSP00000342235:L713F;ENSP00000403204:L713F;ENSP00000385565:L703F|.	ENSP00000342235:L713F|.	L|X	-|-	3|2	2|2	ERBB4|ERBB4	212196955|212196955	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	0.941000|0.941000	0.29005|0.29005	2.703000|2.703000	0.92315|0.92315	0.655000|0.655000	0.94253|0.94253	TTG|TGA		0.403	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		24	71	0	0	0	0.018920	0	24	71				
CYP11B1	1584	broad.mit.edu	37	8	143956467	143956467	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr8:143956467C>T	ENST00000292427.4	-	8	1336	c.1304G>A	c.(1303-1305)gGc>gAc	p.G435D	CYP11B1_ENST00000377675.3_Missense_Mutation_p.G506D|CYP11B1_ENST00000517471.1_Intron	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	435					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GAAGTTCCTGCCGGAGCCCCT	0.637									Familial Hyperaldosteronism type I																													ENST00000292427.4																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67						c.(1303-1305)gGc>gAc		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)						79.0	88.0	85.0					8																	143956467		2203	4300	6503	SO:0001583	missense	1584	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143956467C>T	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1304G>A	8.37:g.143956467C>T	ENSP00000292427:p.Gly435Asp					CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000377675.3_Missense_Mutation_p.G506D	p.G435D	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN			8	1336	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		435					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.1304G>A	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	10.55	1.380989	0.24944	.	.	ENSG00000160882	ENST00000519285;ENST00000292427;ENST00000377675	T;T;T	0.69306	-0.39;-0.39;-0.39	3.26	-0.0494	0.13835	.	1.786830	0.03072	N	0.157282	T	0.62600	0.2441	L	0.46947	1.48	0.09310	N	1	B;P;P	0.50369	0.063;0.934;0.611	B;P;B	0.50537	0.038;0.643;0.198	T	0.49753	-0.8906	10	0.12430	T	0.62	.	2.7159	0.05187	0.2085:0.4061:0.0:0.3854	.	506;435;435	Q4VAR0;Q8TDD0;P15538	.;.;C11B1_HUMAN	D	113;435;506	ENSP00000430144:G113D;ENSP00000292427:G435D;ENSP00000366903:G506D	ENSP00000292427:G435D	G	-	2	0	CYP11B1	143953469	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.437000	0.06914	0.194000	0.20326	0.561000	0.74099	GGC		0.637	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			59	110	0	0	0	0.014410	0	59	110				
PHLDB1	23187	broad.mit.edu	37	11	118506147	118506147	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr11:118506147G>C	ENST00000361417.2	+	11	2827	c.2416G>C	c.(2416-2418)Gag>Cag	p.E806Q	PHLDB1_ENST00000356063.5_Missense_Mutation_p.E806Q|AP002954.3_ENST00000530198.1_RNA|PHLDB1_ENST00000534672.1_3'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	806										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AAAGCTCTTTGAGGACTTGGA	0.637																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(2416-2418)Gag>Cag		pleckstrin homology-like domain, family B, member 1							80.0	82.0	81.0					11																	118506147		2200	4295	6495	SO:0001583	missense	23187							g.chr11:118506147G>C		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.2416G>C	11.37:g.118506147G>C	ENSP00000354498:p.Glu806Gln					PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.E806Q	p.E806Q	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	11	2827	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	806					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	c.2416G>C	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139531	0.94560	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000356063	T;T	0.34275	1.37;1.37	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.63581	0.2523	M	0.77616	2.38	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.998;0.996;0.999;0.971	T	0.67189	-0.5733	10	0.62326	D	0.03	-21.5502	18.9237	0.92536	0.0:0.0:1.0:0.0	.	550;806;806;806	Q5W9G0;Q86UU1-3;Q86UU1-2;Q86UU1	.;.;.;PHLB1_HUMAN	Q	806;565;170;806	ENSP00000354498:E806Q;ENSP00000348359:E806Q	ENSP00000348359:E806Q	E	+	1	0	PHLDB1	118011357	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	9.350000	0.97070	2.520000	0.84964	0.591000	0.81541	GAG		0.637	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		46	149	0	0	0	0.013114	0	46	149				
SPATA25	128497	broad.mit.edu	37	20	44515723	44515723	+	Silent	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr20:44515723C>T	ENST00000372519.3	-	2	161	c.117G>A	c.(115-117)gtG>gtA	p.V39V		NM_080608.3	NP_542175.1	Q9BR10	SPT25_HUMAN	spermatogenesis associated 25	39					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CACCAGAGGCCACCACCACTG	0.607																																						ENST00000372519.3																			0											c.(115-117)gtG>gtA		spermatogenesis associated 25							41.0	48.0	46.0					20																	44515723		2203	4300	6503	SO:0001819	synonymous_variant	128497					integral to membrane		g.chr20:44515723C>T	AL008726	CCDS13383.1	20q13.12	2011-11-24	2011-11-24	2011-11-24	ENSG00000149634	ENSG00000149634			16158	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 165"""	C20orf165		19240080	Standard	NM_080608		Approved	dJ337O18.8, TSG23	uc002xqf.3	Q9BR10	OTTHUMG00000032628	ENST00000372519.3:c.117G>A	20.37:g.44515723C>T							p.V39V	NM_080608.3	NP_542175.1	Q9BR10	CT165_HUMAN			2	161	-			39						Silent	SNP	ENST00000372519.3	37	c.117G>A	CCDS13383.1																																																																																				0.607	SPATA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079541.1			36	102	0	0	0	0.021022	0	36	102				
PURB	5814	broad.mit.edu	37	7	44924866	44924866	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr7:44924866C>A	ENST00000395699.2	-	1	94	c.82G>T	c.(82-84)Gag>Tag	p.E28*	RP4-673M15.1_ENST00000608450.1_RNA	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	28					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of myeloid cell differentiation (GO:0045637)|transcription, DNA-templated (GO:0006351)	DNA replication factor A complex (GO:0005662)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						GTCTCTTGCTCGCCGCCGCCG	0.692																																						ENST00000395699.2																			0				large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						c.(82-84)Gag>Tag		purine-rich element binding protein B							11.0	12.0	12.0					7																	44924866		2190	4278	6468	SO:0001587	stop_gained	5814				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding	g.chr7:44924866C>A		CCDS5499.1	7p13	2008-07-18			ENSG00000146676	ENSG00000146676			9702	protein-coding gene	gene with protein product		608887				1448097	Standard	NM_033224		Approved	PURBETA	uc003tme.3	Q96QR8	OTTHUMG00000023578	ENST00000395699.2:c.82G>T	7.37:g.44924866C>A	ENSP00000379051:p.Glu28*						p.E28*	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN			1	94	-			28					A4D2L7	Nonsense_Mutation	SNP	ENST00000395699.2	37	c.82G>T	CCDS5499.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311551	0.81358	.	.	ENSG00000146676	ENST00000395699	.	.	.	3.03	2.11	0.27256	.	0.274560	0.29916	U	0.010867	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	7.3793	0.26845	0.2608:0.7392:0.0:0.0	.	.	.	.	X	28	.	ENSP00000379051:E28X	E	-	1	0	PURB	44891391	0.996000	0.38824	1.000000	0.80357	0.766000	0.43426	1.123000	0.31308	0.598000	0.29829	0.551000	0.68910	GAG		0.692	PURB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251332.2	NM_033224		4	12	1	0	2.0095e-06	0.001984	2.09401e-06	4	12				
RECQL	5965	broad.mit.edu	37	12	21626554	21626554	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:21626554G>C	ENST00000444129.2	-	12	1846	c.1378C>G	c.(1378-1380)Caa>Gaa	p.Q460E	RECQL_ENST00000421138.2_Missense_Mutation_p.Q460E	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	460					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TCAAAATGTTGAGCCATCAAC	0.323								Other identified genes with known or suspected DNA repair function																														ENST00000444129.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1378-1380)Caa>Gaa	Other identified genes with known or suspected DNA repair function	RecQ protein-like (DNA helicase Q1-like)							138.0	111.0	120.0					12																	21626554		2202	4299	6501	SO:0001583	missense	5965				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	g.chr12:21626554G>C	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.1378C>G	12.37:g.21626554G>C	ENSP00000416739:p.Gln460Glu					RECQL_ENST00000421138.2_Missense_Mutation_p.Q460E	p.Q460E	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN			12	1846	-			460					A8K6G2	Missense_Mutation	SNP	ENST00000444129.2	37	c.1378C>G	CCDS31756.1	.	.	.	.	.	.	.	.	.	.	G	9.375	1.071475	0.20147	.	.	ENSG00000004700	ENST00000444129;ENST00000421138	T;T	0.30981	1.51;1.51	6.04	6.04	0.98038	.	0.318671	0.35677	N	0.003044	T	0.17408	0.0418	N	0.05534	-0.03	0.34189	D	0.671798	B	0.02656	0.0	B	0.04013	0.001	T	0.11842	-1.0571	10	0.02654	T	1	-15.4846	20.5948	0.99439	0.0:0.0:1.0:0.0	.	460	P46063	RECQ1_HUMAN	E	460	ENSP00000416739:Q460E;ENSP00000395449:Q460E	ENSP00000395449:Q460E	Q	-	1	0	RECQL	21517821	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	4.655000	0.61476	2.873000	0.98535	0.563000	0.77884	CAA		0.323	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		17	57	0	0	0	0.012319	0	17	57				
ABHD15	116236	broad.mit.edu	37	17	27889909	27889909	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:27889909G>A	ENST00000307201.4	-	2	1247	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	359						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						ACACGGGGTCGTCAGCACTGC	0.602																																						ENST00000307201.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1075-1077)gaC>gaT		abhydrolase domain containing 15							79.0	75.0	76.0					17																	27889909		2203	4300	6503	SO:0001819	synonymous_variant	116236					extracellular region	carboxylesterase activity	g.chr17:27889909G>A	AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792		"""Abhydrolase domain containing"""	26971	protein-coding gene	gene with protein product						12975309	Standard	NM_198147		Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.1077C>T	17.37:g.27889909G>A						RP11-68I3.2_ENST00000581474.1_RNA	p.D359D	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN			2	1247	-			359					Q96EC5	Silent	SNP	ENST00000307201.4	37	c.1077C>T	CCDS32602.1																																																																																				0.602	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447796.2	NM_198147		12	101	0	0	0	0.016723	0	12	101				
RAP1B	5908	broad.mit.edu	37	12	69042539	69042539	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:69042539G>A	ENST00000250559.9	+	2	266	c.35G>A	c.(34-36)gGa>gAa	p.G12E	RAP1B_ENST00000540209.1_Missense_Mutation_p.G12E|RAP1B_ENST00000543697.1_Missense_Mutation_p.G12E|RAP1B_ENST00000393436.5_Missense_Mutation_p.G12E|RAP1B_ENST00000542145.1_Missense_Mutation_p.G12E|RAP1B_ENST00000537460.1_Missense_Mutation_p.G12E|RAP1B_ENST00000543393.1_Intron|RAP1B_ENST00000463493.1_Intron|RAP1B_ENST00000378985.3_Intron|RAP1B_ENST00000541216.1_Missense_Mutation_p.G12E|RAP1B_ENST00000450214.2_Missense_Mutation_p.G12E|RAP1B_ENST00000539091.1_Missense_Mutation_p.G12E|RAP1B_ENST00000341355.5_Missense_Mutation_p.G12E	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	12					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of establishment of cell polarity (GO:2000114)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		CTTGGCTCAGGAGGCGTTGGA	0.363																																						ENST00000250559.9																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12						c.(34-36)gGa>gAa		RAP1B, member of RAS oncogene family							106.0	87.0	94.0					12																	69042539		2203	4300	6503	SO:0001583	missense	5908				blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding	g.chr12:69042539G>A		CCDS8984.1, CCDS58252.1, CCDS58253.1, CCDS58254.1	12q14	2014-05-09			ENSG00000127314	ENSG00000127314			9857	protein-coding gene	gene with protein product		179530				3137530, 12089143	Standard	NM_015646		Approved	K-REV, RAL1B, DKFZp586H0723	uc001suc.3	P61224	OTTHUMG00000133660	ENST00000250559.9:c.35G>A	12.37:g.69042539G>A	ENSP00000250559:p.Gly12Glu					RAP1B_ENST00000543697.1_Missense_Mutation_p.G12E|RAP1B_ENST00000543393.1_Intron|RAP1B_ENST00000542145.1_Missense_Mutation_p.G12E|RAP1B_ENST00000393436.5_Missense_Mutation_p.G12E|RAP1B_ENST00000541216.1_Missense_Mutation_p.G12E|RAP1B_ENST00000540209.1_Missense_Mutation_p.G12E|RAP1B_ENST00000539091.1_Missense_Mutation_p.G12E|RAP1B_ENST00000537460.1_Missense_Mutation_p.G12E|RAP1B_ENST00000463493.1_Intron|RAP1B_ENST00000450214.2_Missense_Mutation_p.G12E|RAP1B_ENST00000378985.3_Intron|RAP1B_ENST00000341355.5_Missense_Mutation_p.G12E	p.G12E	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)	2	266	+	Breast(13;1.24e-05)		12					B2R5Z2|B4DQI8|B4DW74|B4DW94|P09526|Q502X3|Q5TZR4|Q6DCA1|Q6LES0	Missense_Mutation	SNP	ENST00000250559.9	37	c.35G>A	CCDS8984.1	.	.	.	.	.	.	.	.	.	.	G	34	5.389856	0.95988	.	.	ENSG00000127314	ENST00000250559;ENST00000393436;ENST00000425247;ENST00000422358;ENST00000541167;ENST00000538283;ENST00000341355;ENST00000537460;ENST00000450214;ENST00000545270;ENST00000542018;ENST00000534899;ENST00000453560;ENST00000540209;ENST00000540781;ENST00000539091;ENST00000542145;ENST00000485252;ENST00000456697;ENST00000538877;ENST00000543697;ENST00000545720;ENST00000541216	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-0.51;-1.14;-1.14;-1.14;-1.14;-0.51;-1.14;-0.51;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	5.34	5.34	0.76211	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90693	0.7080	M	0.90019	3.08	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;1.0;1.0	D;D;D;D	0.97110	1.0;0.931;1.0;1.0	D	0.91315	0.5077	9	.	.	.	.	19.9349	0.97133	0.0:0.0:1.0:0.0	.	12;12;12;12	B4DW94;B4DW74;B4DQI8;P61224	.;.;.;RAP1B_HUMAN	E	12	ENSP00000250559:G12E;ENSP00000377085:G12E;ENSP00000401095:G12E;ENSP00000390972:G12E;ENSP00000445138:G12E;ENSP00000444786:G12E;ENSP00000441275:G12E;ENSP00000439966:G12E;ENSP00000399986:G12E;ENSP00000437415:G12E;ENSP00000438088:G12E;ENSP00000441952:G12E;ENSP00000444060:G12E;ENSP00000446318:G12E;ENSP00000440466:G12E;ENSP00000444830:G12E;ENSP00000440014:G12E;ENSP00000444924:G12E;ENSP00000440635:G12E;ENSP00000440708:G12E;ENSP00000438311:G12E;ENSP00000443851:G12E	.	G	+	2	0	RAP1B	67328806	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.880000	0.98712	0.650000	0.86243	GGA		0.363	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257821.3	NM_001010942		27	46	0	0	0	0.009535	0	27	46				
NOP14	8602	broad.mit.edu	37	4	2948177	2948177	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr4:2948177C>G	ENST00000314262.6	-	11	1645	c.1597G>C	c.(1597-1599)Gag>Cag	p.E533Q	NOP14_ENST00000398071.4_Missense_Mutation_p.E533Q|NOP14-AS1_ENST00000503709.1_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000505731.1_RNA|NOP14_ENST00000416614.2_Missense_Mutation_p.E533Q|NOP14_ENST00000502735.1_Missense_Mutation_p.E533Q	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	533					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CCTTTGGTCTCAATCATTTCT	0.488																																						ENST00000416614.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						c.(1597-1599)Gag>Cag		NOP14 nucleolar protein							119.0	115.0	116.0					4																	2948177		2203	4300	6503	SO:0001583	missense	8602				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding	g.chr4:2948177C>G	AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.1597G>C	4.37:g.2948177C>G	ENSP00000315674:p.Glu533Gln					NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000314262.6_Missense_Mutation_p.E533Q|NOP14_ENST00000502735.1_Missense_Mutation_p.E533Q|NOP14_ENST00000398071.4_Missense_Mutation_p.E533Q|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000507702.1_RNA	p.E533Q			P78316	NOP14_HUMAN			11	1662	-			533					D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	ENST00000314262.6	37	c.1597G>C	CCDS33945.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.855547	0.91355	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.48	5.48	0.80851	.	0.173276	0.51477	D	0.000088	T	0.58764	0.2145	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	0.985;1.0;1.0	D;D;D	0.91635	0.918;0.999;0.999	T	0.62011	-0.6944	10	0.87932	D	0	-39.3343	18.9346	0.92580	0.0:1.0:0.0:0.0	.	326;533;533	Q96GC8;E9PFK5;P78316	.;.;NOP14_HUMAN	Q	533;533;533;533;432	ENSP00000405068:E533Q;ENSP00000315674:E533Q;ENSP00000427415:E533Q;ENSP00000381146:E533Q	ENSP00000315674:E533Q	E	-	1	0	NOP14	2917975	1.000000	0.71417	0.124000	0.21820	0.863000	0.49368	7.119000	0.77145	2.572000	0.86782	0.491000	0.48974	GAG		0.488	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703		29	81	0	0	0	0.015359	0	29	81				
NIPAL4	348938	broad.mit.edu	37	5	156895764	156895764	+	Silent	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:156895764C>T	ENST00000311946.7	+	4	671	c.555C>T	c.(553-555)taC>taT	p.Y185Y	NIPAL4_ENST00000435489.2_Silent_p.Y166Y|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	185						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						TTGGAGCCTACGCATTTGCAC	0.507																																						ENST00000311946.7																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						c.(553-555)taC>taT		NIPA-like domain containing 4							129.0	134.0	132.0					5																	156895764		2022	4183	6205	SO:0001819	synonymous_variant	348938					integral to membrane	receptor activity	g.chr5:156895764C>T	AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"""ichthyin"""	609383	"""NIPA-like 4"""			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.555C>T	5.37:g.156895764C>T						NIPAL4_ENST00000435489.2_Silent_p.Y166Y|ADAM19_ENST00000430702.2_Intron	p.Y185Y	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN			4	671	+			185					A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Silent	SNP	ENST00000311946.7	37	c.555C>T	CCDS47328.1																																																																																				0.507	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373789.1	NM_001099287		36	96	0	0	0	0.021022	0	36	96				
MYO15A	51168	broad.mit.edu	37	17	18022599	18022599	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:18022599G>A	ENST00000205890.5	+	2	823	c.485G>A	c.(484-486)cGc>cAc	p.R162H		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	162					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGGCTGCAGCGCTCGAGCTCC	0.677																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(484-486)cGc>cAc		myosin XVA							21.0	24.0	23.0					17																	18022599		1949	4086	6035	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18022599G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.485G>A	17.37:g.18022599G>A	ENSP00000205890:p.Arg162His						p.R162H	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	823	+	all_neural(463;0.228)		162			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.485G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.130406	0.37630	.	.	ENSG00000091536	ENST00000205890	D	0.90788	-2.73	5.49	4.53	0.55603	.	.	.	.	.	D	0.91576	0.7339	L	0.29908	0.895	0.48511	D	0.999664	D	0.89917	1.0	D	0.79784	0.993	D	0.92173	0.5745	9	0.72032	D	0.01	.	12.5657	0.56308	0.078:0.0:0.922:0.0	.	162	Q9UKN7	MYO15_HUMAN	H	162	ENSP00000205890:R162H	ENSP00000205890:R162H	R	+	2	0	MYO15A	17963324	0.983000	0.35010	0.056000	0.19401	0.127000	0.20565	2.521000	0.45563	1.323000	0.45263	-0.221000	0.12465	CGC		0.677	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		11	65	0	0	0	0.013537	0	11	65				
SGPP1	81537	broad.mit.edu	37	14	64153029	64153029	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr14:64153029C>G	ENST00000247225.6	-	3	1214	c.1120G>C	c.(1120-1122)Gta>Cta	p.V374L		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	374					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate metabolic process (GO:0006668)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		AGTACAAATACCATCCCTATG	0.383																																						ENST00000247225.6																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10						c.(1120-1122)Gta>Cta		sphingosine-1-phosphate phosphatase 1							128.0	122.0	124.0					14																	64153029		2203	4300	6503	SO:0001583	missense	81537					endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr14:64153029C>G	AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821			17720	protein-coding gene	gene with protein product		612826				10859351	Standard	NM_030791		Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.1120G>C	14.37:g.64153029C>G	ENSP00000247225:p.Val374Leu						p.V374L	NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)	3	1214	-			374					B2RAH0|Q9H189	Missense_Mutation	SNP	ENST00000247225.6	37	c.1120G>C	CCDS9760.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.467642	0.01053	.	.	ENSG00000126821	ENST00000247225	.	.	.	6.07	-4.74	0.03249	.	1.423910	0.04519	N	0.384290	T	0.14313	0.0346	N	0.13327	0.33	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22591	-1.0212	9	0.02654	T	1	-21.6463	1.889	0.03243	0.1813:0.2654:0.3337:0.2196	.	374	Q9BX95	SGPP1_HUMAN	L	374	.	ENSP00000247225:V374L	V	-	1	0	SGPP1	63222782	0.000000	0.05858	0.000000	0.03702	0.214000	0.24535	-1.440000	0.02412	-1.440000	0.01960	-0.929000	0.02709	GTA		0.383	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072626.3	NM_030791		96	222	0	0	0	0.014410	0	96	222				
FBXO31	79791	broad.mit.edu	37	16	87367628	87367628	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr16:87367628C>T	ENST00000311635.7	-	8	1273	c.1261G>A	c.(1261-1263)Ggt>Agt	p.G421S	RP11-178L8.4_ENST00000568879.1_Silent_p.L84L	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	421					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		CCATCCTCACCAGGTGTCCCA	0.746																																						ENST00000311635.7																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17						c.(1261-1263)Ggt>Agt		F-box protein 31							21.0	23.0	22.0					16																	87367628		2195	4296	6491	SO:0001583	missense	79791				cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	g.chr16:87367628C>T	BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"""F-boxes /  ""other"""""	16510	protein-coding gene	gene with protein product		609102	"""F-box only protein 31"""				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.1261G>A	16.37:g.87367628C>T	ENSP00000310841:p.Gly421Ser					RP11-178L8.4_ENST00000568879.1_Silent_p.L84L	p.G421S	NM_024735.3	NP_079011.3	Q5XUX0	FBX31_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	8	1273	-			421					Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	ENST00000311635.7	37	c.1261G>A	CCDS32501.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914652	0.52546	.	.	ENSG00000103264	ENST00000311635	.	.	.	4.97	3.02	0.34903	.	1.110710	0.06831	N	0.793930	T	0.39226	0.1070	L	0.40543	1.245	0.09310	N	0.999998	B;B	0.17465	0.013;0.022	B;B	0.15870	0.006;0.014	T	0.29027	-1.0025	9	0.22109	T	0.4	-23.5872	8.8888	0.35420	0.0:0.8164:0.0:0.1836	.	421;313	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	S	421	.	ENSP00000310841:G421S	G	-	1	0	FBXO31	85925129	0.048000	0.20356	0.005000	0.12908	0.019000	0.09904	1.845000	0.39279	0.508000	0.28173	0.561000	0.74099	GGT		0.746	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430799.2	NM_024735		8	29	0	0	0	0.004482	0	8	29				
SLC23A2	9962	broad.mit.edu	37	20	4850573	4850573	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr20:4850573G>T	ENST00000379333.1	-	12	1621	c.1229C>A	c.(1228-1230)cCc>cAc	p.P410H	SLC23A2_ENST00000468355.1_5'UTR|SNORA31_ENST00000516287.1_RNA|SLC23A2_ENST00000424750.2_Missense_Mutation_p.P296H|SLC23A2_ENST00000338244.1_Missense_Mutation_p.P410H	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	410					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GTGGATGGGGGGGGGTGGGGC	0.542																																						ENST00000379333.1																			0				endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1228-1230)cCc>cAc		solute carrier family 23 (ascorbic acid transporter), member 2							67.0	72.0	70.0					20																	4850573		2203	4300	6503	SO:0001583	missense	9962				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	g.chr20:4850573G>T	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1229C>A	20.37:g.4850573G>T	ENSP00000368637:p.Pro410His					SLC23A2_ENST00000424750.2_Missense_Mutation_p.P296H|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Missense_Mutation_p.P410H	p.P410H	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN			12	1621	-			410					B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	ENST00000379333.1	37	c.1229C>A	CCDS13085.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827842	0.71143	.	.	ENSG00000089057	ENST00000379333;ENST00000338244;ENST00000424750	T;T;T	0.18810	2.19;2.19;2.19	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.60353	0.2262	M	0.94142	3.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.99;0.99	T	0.71692	-0.4516	10	0.87932	D	0	-17.2116	18.3024	0.90168	0.0:0.0:1.0:0.0	.	296;410;410	B4DJZ1;A0MSJ5;Q9UGH3	.;.;S23A2_HUMAN	H	410;410;296	ENSP00000368637:P410H;ENSP00000344322:P410H;ENSP00000406601:P296H	ENSP00000344322:P410H	P	-	2	0	SLC23A2	4798573	1.000000	0.71417	0.321000	0.25320	0.311000	0.27955	9.841000	0.99482	2.740000	0.93945	0.563000	0.77884	CCC		0.542	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			36	75	1	0	6.90743e-12	0.017118	7.47746e-12	36	75				
LRP6	4040	broad.mit.edu	37	12	12284775	12284775	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:12284775G>A	ENST00000261349.4	-	18	4026	c.3950C>T	c.(3949-3951)tCa>tTa	p.S1317L	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_5'UTR|LRP6_ENST00000543091.1_Missense_Mutation_p.S1272L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1317	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CTTCTCATCTGATTTGTCCTG	0.448																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(3949-3951)tCa>tTa		low density lipoprotein receptor-related protein 6							147.0	121.0	130.0					12																	12284775		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12284775G>A	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.3950C>T	12.37:g.12284775G>A	ENSP00000261349:p.Ser1317Leu					LRP6_ENST00000543091.1_Missense_Mutation_p.S1272L|BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_5'UTR	p.S1317L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			18	4026	-		Prostate(47;0.0865)	1317			LDL-receptor class A 2.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.3950C>T	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369726	0.82573	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.97811	-4.55;-4.55	5.92	5.92	0.95590	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.52532	D	0.000061	D	0.99127	0.9699	M	0.93763	3.455	0.80722	D	1	D;D	0.63046	0.989;0.992	D;D	0.75020	0.985;0.955	D	0.99107	1.0845	10	0.66056	D	0.02	.	20.3081	0.98638	0.0:0.0:1.0:0.0	.	1272;1317	F5H7J9;O75581	.;LRP6_HUMAN	L	1317;1272	ENSP00000261349:S1317L;ENSP00000442472:S1272L	ENSP00000261349:S1317L	S	-	2	0	LRP6	12176042	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	9.476000	0.97823	2.795000	0.96236	0.655000	0.94253	TCA		0.448	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			38	150	0	0	0	0.027894	0	38	150				
IPO7	10527	broad.mit.edu	37	11	9430055	9430055	+	Missense_Mutation	SNP	G	G	C	rs375588505		TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr11:9430055G>C	ENST00000379719.3	+	3	331	c.189G>C	c.(187-189)atG>atC	p.M63I		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	63	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TGAAAAATATGATAACACAGT	0.363																																						ENST00000379719.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(187-189)atG>atC		importin 7							56.0	55.0	55.0					11																	9430055		2201	4296	6497	SO:0001583	missense	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9430055G>C	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.189G>C	11.37:g.9430055G>C	ENSP00000369042:p.Met63Ile						p.M63I	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	3	331	+			63			Importin N-terminal.		A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	c.189G>C	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231656	0.79688	.	.	ENSG00000205339	ENST00000379719;ENST00000527431	T;T	0.65549	-0.16;-0.16	5.5	5.5	0.81552	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.62865	0.2463	L	0.48877	1.53	0.80722	D	1	B	0.27380	0.177	B	0.36989	0.238	T	0.56908	-0.7901	10	0.23891	T	0.37	.	19.4039	0.94641	0.0:0.0:1.0:0.0	.	63	O95373	IPO7_HUMAN	I	63;1	ENSP00000369042:M63I;ENSP00000435235:M1I	ENSP00000369042:M63I	M	+	3	0	IPO7	9386631	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.975000	0.88055	2.586000	0.87340	0.650000	0.86243	ATG		0.363	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		20	59	0	0	0	0.007413	0	20	59				
OR10W1	81341	broad.mit.edu	37	11	58034971	58034971	+	Silent	SNP	C	C	T	rs200368241	byFrequency	TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr11:58034971C>T	ENST00000395079.2	-	1	761	c.360G>A	c.(358-360)ccG>ccA	p.P120P		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P120P(1)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GGTACTGCAACGGGTGGCAAA	0.532													t|||	4	0.000798722	0.0008	0.0014	5008	,	,		23338	0.0		0.0	False		,,,				2504	0.002					ENST00000395079.2																			1	Substitution - coding silent(1)	p.P120P(1)	lung(1)	kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26						c.(358-360)ccG>ccA		olfactory receptor, family 10, subfamily W, member 1		T		1,4401	2.1+/-5.4	0,1,2200	117.0	80.0	92.0		360	-11.6	0.0	11		92	2,8588	2.2+/-6.3	0,2,4293	no	coding-synonymous	OR10W1	NM_207374.3		0,3,6493	TT,TC,CC		0.0233,0.0227,0.0231		120/306	58034971	3,12989	2201	4295	6496	SO:0001819	synonymous_variant	81341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58034971C>T	AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"""GPCR / Class A : Olfactory receptors"""	15139	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily W, member 1 pseudogene"""	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.360G>A	11.37:g.58034971C>T							p.P120P	NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN			1	761	-		Breast(21;0.0589)	120					A2RUD2|A8MTE1|Q6UXQ2	Silent	SNP	ENST00000395079.2	37	c.360G>A	CCDS7968.1																																																																																				0.532	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1	NM_207374		9	36	0	0	0	0.004482	0	9	36				
ZBBX	79740	broad.mit.edu	37	3	167068267	167068267	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr3:167068267A>T	ENST00000392766.2	-	9	809	c.469T>A	c.(469-471)Tgc>Agc	p.C157S	ZBBX_ENST00000392764.1_Missense_Mutation_p.C128S|ZBBX_ENST00000392767.2_Missense_Mutation_p.C157S|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Missense_Mutation_p.C157S|ZBBX_ENST00000307529.5_Missense_Mutation_p.C157S	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	157						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTAGCAAAGCATCCTGAACAA	0.303																																						ENST00000392766.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(469-471)Tgc>Agc		zinc finger, B-box domain containing							185.0	175.0	178.0					3																	167068267		1808	4071	5879	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167068267A>T	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.469T>A	3.37:g.167068267A>T	ENSP00000376519:p.Cys157Ser					ZBBX_ENST00000307529.5_Missense_Mutation_p.C157S|ZBBX_ENST00000392767.2_Missense_Mutation_p.C157S|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392764.1_Missense_Mutation_p.C128S|ZBBX_ENST00000455345.2_Missense_Mutation_p.C157S	p.C157S	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			9	809	-			157					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.469T>A	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	A	17.14	3.314462	0.60524	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764;ENST00000474464	D;D;D;D;D;T	0.99080	-5.4;-5.4;-5.4;-5.4;-5.4;-0.17	5.71	5.71	0.89125	Zinc finger, B-box (1);	0.000000	0.35378	U	0.003254	D	0.99124	0.9698	M	0.73962	2.25	0.48341	D	0.999633	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99581	1.0973	10	0.62326	D	0.03	-4.6631	13.9316	0.63998	1.0:0.0:0.0:0.0	.	157;157	A8MT70-2;A8MT70	.;ZBBX_HUMAN	S	157;157;157;157;128;157	ENSP00000376519:C157S;ENSP00000376520:C157S;ENSP00000390232:C157S;ENSP00000305065:C157S;ENSP00000376517:C128S;ENSP00000419307:C157S	ENSP00000305065:C157S	C	-	1	0	ZBBX	168550961	1.000000	0.71417	0.988000	0.46212	0.473000	0.32948	6.044000	0.71012	2.168000	0.68352	0.477000	0.44152	TGC		0.303	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		6	370	0	0	0	0.021553	0	6	370				
HAO2	51179	broad.mit.edu	37	1	119923746	119923746	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:119923746C>T	ENST00000325945.3	+	2	111	c.38C>T	c.(37-39)gCg>gTg	p.A13V	HAO2_ENST00000361035.4_Missense_Mutation_p.A26V	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	13	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		CAGGCCCATGCGCGAGAGCAG	0.473																																						ENST00000361035.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(76-78)gCg>gTg		hydroxyacid oxidase 2 (long chain)							188.0	179.0	182.0					1																	119923746		2203	4300	6503	SO:0001583	missense	51179				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	g.chr1:119923746C>T	AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"""(S)-2-hydroxy-acid oxidase"", ""glycolate oxidase"", ""long-chain L-2-hydroxy acid oxidase"", ""growth-inhibiting protein 16"""	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.38C>T	1.37:g.119923746C>T	ENSP00000316339:p.Ala13Val					HAO2_ENST00000325945.3_Missense_Mutation_p.A13V	p.A26V	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)	3	360	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	13			FMN hydroxy acid dehydrogenase.		Q2TU86|Q5QP00|Q9UJS6	Missense_Mutation	SNP	ENST00000325945.3	37	c.77C>T	CCDS901.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535835	0.64972	.	.	ENSG00000116882	ENST00000457318;ENST00000361035;ENST00000325945	T;T;T	0.57436	0.4;0.4;0.4	5.4	5.4	0.78164	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.099171	0.64402	D	0.000002	T	0.75012	0.3792	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	T	0.80540	-0.1337	9	.	.	.	-18.1138	19.1748	0.93600	0.0:1.0:0.0:0.0	.	13	Q9NYQ3	HAOX2_HUMAN	V	13;26;13	ENSP00000393955:A13V;ENSP00000354314:A26V;ENSP00000316339:A13V	.	A	+	2	0	HAO2	119725269	1.000000	0.71417	0.034000	0.17996	0.001000	0.01503	7.226000	0.78060	2.542000	0.85734	0.655000	0.94253	GCG		0.473	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034984.1	NM_001005783		6	259	0	0	0	0.001984	0	6	259				
PCDHB12	56124	broad.mit.edu	37	5	140590604	140590604	+	Missense_Mutation	SNP	G	G	A	rs199658197		TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:140590604G>A	ENST00000239450.2	+	1	2314	c.2125G>A	c.(2125-2127)Gtg>Atg	p.V709M	PCDHB12_ENST00000541609.1_Missense_Mutation_p.V372M|PCDHB13_ENST00000341948.4_5'Flank	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	709					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCTGTTCGTGGCGGTGCG	0.697																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(2125-2127)Gtg>Atg									81.0	91.0	88.0					5																	140590604		2203	4295	6498	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590604G>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.2125G>A	5.37:g.140590604G>A	ENSP00000239450:p.Val709Met					PCDHB12_ENST00000541609.1_Missense_Mutation_p.V372M	p.V709M	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2314	+			709					B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.2125G>A	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	g	19.94	3.920143	0.73098	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.15256	2.44;2.44	3.77	-2.26	0.06867	.	.	.	.	.	T	0.47135	0.1429	H	0.97340	3.985	0.09310	N	1	D	0.76494	0.999	D	0.63488	0.915	T	0.31806	-0.9930	9	0.66056	D	0.02	.	5.9732	0.19363	0.3656:0.2362:0.3982:0.0	.	709	Q9Y5F1	PCDBC_HUMAN	M	372;709;329	ENSP00000440199:V372M;ENSP00000239450:V709M	ENSP00000239450:V709M	V	+	1	0	PCDHB12	140570788	0.000000	0.05858	0.001000	0.08648	0.795000	0.44927	-1.858000	0.01659	-0.394000	0.07727	0.479000	0.44913	GTG		0.697	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		44	199	0	0	0	0.014410	0	44	199				
TG	7038	broad.mit.edu	37	8	133978843	133978843	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr8:133978843C>A	ENST00000220616.4	+	30	5627	c.5587C>A	c.(5587-5589)Cag>Aag	p.Q1863K	TG_ENST00000542445.1_Missense_Mutation_p.Q233K|TG_ENST00000519543.1_Missense_Mutation_p.Q17K|TG_ENST00000377869.1_Missense_Mutation_p.Q1806K	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1863					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGACCTCAACCAGGTCATTGT	0.453																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(5587-5589)Cag>Aag		thyroglobulin							103.0	95.0	98.0					8																	133978843		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133978843C>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.5587C>A	8.37:g.133978843C>A	ENSP00000220616:p.Gln1863Lys					TG_ENST00000542445.1_Missense_Mutation_p.Q233K|TG_ENST00000519543.1_Missense_Mutation_p.Q17K|TG_ENST00000377869.1_Missense_Mutation_p.Q1806K	p.Q1863K	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	30	5627	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1863					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.5587C>A	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.88|16.88	3.243938|3.243938	0.58995|0.58995	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	.|T;T;T;T	.|0.67345	.|-0.04;-0.05;-0.25;-0.26	5.79|5.79	3.88|3.88	0.44766|0.44766	.|.	.|0.923450	.|0.09132	.|N	.|0.844191	T|T	0.70290|0.70290	0.3207|0.3207	M|M	0.75447|0.75447	2.3|2.3	0.09310|0.09310	N|N	1|1	.|P;P;P	.|0.48294	.|0.544;0.908;0.773	.|B;B;B	.|0.43916	.|0.084;0.436;0.138	T|T	0.61637|0.61637	-0.7022|-0.7022	5|10	.|0.72032	.|D	.|0.01	.|.	11.5046|11.5046	0.50459|0.50459	0.3234:0.6766:0.0:0.0|0.3234:0.6766:0.0:0.0	.|.	.|17;233;1863	.|E7EVM0;F5GWW5;P01266	.|.;.;THYG_HUMAN	Q|K	318|1806;669;1863;233;17	.|ENSP00000367100:Q1806K;ENSP00000220616:Q1863K;ENSP00000441693:Q233K;ENSP00000430430:Q17K	.|ENSP00000220616:Q1863K	P|Q	+|+	2|1	0|0	TG|TG	134048025|134048025	0.020000|0.020000	0.18652|0.18652	0.643000|0.643000	0.29450|0.29450	0.492000|0.492000	0.33523|0.33523	1.985000|1.985000	0.40668|0.40668	1.401000|1.401000	0.46761|0.46761	0.545000|0.545000	0.68477|0.68477	CCA|CAG		0.453	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		35	155	1	0	2.52637e-11	0.023175	2.70856e-11	35	155				
NUP93	9688	broad.mit.edu	37	16	56878443	56878443	+	Silent	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr16:56878443C>G	ENST00000308159.5	+	22	2503	c.2382C>G	c.(2380-2382)acC>acG	p.T794T	NUP93_ENST00000542526.1_Silent_p.T671T|NUP93_ENST00000569842.1_Missense_Mutation_p.L834V|NUP93_ENST00000564887.1_Silent_p.T671T	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	794					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CTCTGATTACCTTTGCTGGAA	0.498																																					Colon(33;610 796 1305 1705 38917)	ENST00000569842.1																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(2500-2502)Ctt>Gtt		nucleoporin 93kDa							126.0	100.0	109.0					16																	56878443		2198	4300	6498	SO:0001819	synonymous_variant	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56878443C>G	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.2382C>G	16.37:g.56878443C>G						NUP93_ENST00000542526.1_Silent_p.T671T|NUP93_ENST00000308159.5_Silent_p.T794T|NUP93_ENST00000564887.1_Silent_p.T671T	p.L834V			Q8N1F7	NUP93_HUMAN			23	2596	+			0					B3KPQ8|Q14705	Missense_Mutation	SNP	ENST00000308159.5	37	c.2500C>G	CCDS10769.1																																																																																				0.498	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		27	38	0	0	0	0.007291	0	27	38				
IFNA16	3449	broad.mit.edu	37	9	21216761	21216761	+	Missense_Mutation	SNP	G	G	T	rs555988465		TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr9:21216761G>T	ENST00000380216.1	-	1	549	c.544C>A	c.(544-546)Caa>Aaa	p.Q182K		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	182					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		AATCCTTTTTGCAAGTTTGTT	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		17289	0.001		0.0	False		,,,				2504	0.0					ENST00000380216.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13						c.(544-546)Caa>Aaa		interferon, alpha 16							186.0	178.0	181.0					9																	21216761		2203	4300	6503	SO:0001583	missense	3449				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21216761G>T		CCDS34996.1	9p22	2010-12-10			ENSG00000147885	ENSG00000147885		"""Interferons"""	5421	protein-coding gene	gene with protein product		147580				1385305	Standard	NM_002173		Approved	IFN-alphaO	uc003zor.1	P05015	OTTHUMG00000019663	ENST00000380216.1:c.544C>A	9.37:g.21216761G>T	ENSP00000369564:p.Gln182Lys						p.Q182K	NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN		Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	549	-			182					Q5VV12	Missense_Mutation	SNP	ENST00000380216.1	37	c.544C>A	CCDS34996.1	.	.	.	.	.	.	.	.	.	.	-	8.368	0.834737	0.16820	.	.	ENSG00000147885	ENST00000380216	T	0.03607	3.87	2.62	-0.858	0.10689	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.239000	0.05798	N	0.611755	T	0.04815	0.0130	L	0.58925	1.835	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.45175	-0.9279	10	0.52906	T	0.07	.	2.9677	0.05912	0.3743:0.0:0.4315:0.1942	.	182	P05015	IFN16_HUMAN	K	182	ENSP00000369564:Q182K	ENSP00000369564:Q182K	Q	-	1	0	IFNA16	21206761	0.000000	0.05858	0.000000	0.03702	0.229000	0.25112	-0.036000	0.12185	-0.352000	0.08237	0.184000	0.17185	CAA		0.373	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051892.1	NM_002173		190	422	1	0	8.32648e-103	0.014410	9.57116e-103	190	422				
FAM179B	23116	broad.mit.edu	37	14	45432126	45432126	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr14:45432126G>A	ENST00000361577.3	+	1	716	c.502G>A	c.(502-504)Gag>Aag	p.E168K	FAM179B_ENST00000382233.2_Missense_Mutation_p.E168K|FAM179B_ENST00000361462.2_Missense_Mutation_p.E168K|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000553817.1_5'Flank|KLHL28_ENST00000396128.4_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	168										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GGGTCAGGGGGAGGCAGGCCA	0.562																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(502-504)Gag>Aag		family with sequence similarity 179, member B							74.0	82.0	80.0					14																	45432126		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45432126G>A	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.502G>A	14.37:g.45432126G>A	ENSP00000355045:p.Glu168Lys					FAM179B_ENST00000361577.3_Missense_Mutation_p.E168K|FAM179B_ENST00000382233.2_Missense_Mutation_p.E168K	p.E168K			Q9Y4F4	F179B_HUMAN			1	685	+			168					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.502G>A	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127677	0.77549	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.56275	0.47;0.47;0.47	4.54	4.54	0.55810	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.42682	D	0.000680	T	0.55353	0.1915	N	0.24115	0.695	0.34689	D	0.725492	D;D;D;D	0.67145	0.996;0.99;0.996;0.996	D;D;D;D	0.72982	0.914;0.979;0.979;0.914	T	0.60667	-0.7218	10	0.25751	T	0.34	-10.9479	12.6429	0.56718	0.0:0.0:1.0:0.0	.	168;168;168;168	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	K	168	ENSP00000355045:E168K;ENSP00000354917:E168K;ENSP00000371668:E168K	ENSP00000354917:E168K	E	+	1	0	FAM179B	44501876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.235000	0.58666	2.352000	0.79861	0.655000	0.94253	GAG		0.562	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		157	102	0	0	0	0.014410	0	157	102				
KIF22	3835	broad.mit.edu	37	16	29811084	29811084	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr16:29811084G>A	ENST00000160827.4	+	7	1166	c.1126G>A	c.(1126-1128)Gag>Aag	p.E376K	KIF22_ENST00000563263.1_3'UTR|KIF22_ENST00000400751.5_Missense_Mutation_p.E308K|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000561482.1_Missense_Mutation_p.E308K|KIF22_ENST00000569382.2_Missense_Mutation_p.E308K	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	376					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						TTTTACCAATGAGAGCCTGCA	0.532																																						ENST00000561482.1																			0				endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						c.(922-924)Gag>Aag		kinesin family member 22							38.0	34.0	35.0					16																	29811084		2197	4296	6493	SO:0001583	missense	3835				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chr16:29811084G>A	D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"""Kinesins"""	6391	protein-coding gene	gene with protein product		603213	"""kinesin-like 4"""	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.1126G>A	16.37:g.29811084G>A	ENSP00000160827:p.Glu376Lys					KIF22_ENST00000400751.5_Missense_Mutation_p.E308K|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000563263.1_3'UTR|KIF22_ENST00000160827.4_Missense_Mutation_p.E376K|KIF22_ENST00000569382.2_Missense_Mutation_p.E308K	p.E308K	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN			7	1559	+			376					B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Missense_Mutation	SNP	ENST00000160827.4	37	c.922G>A	CCDS10653.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.473179	0.43942	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	T;T	0.77229	-1.01;-1.08	5.94	3.67	0.42095	Kinesin, motor domain (1);	.	.	.	.	T	0.68550	0.3013	L	0.41906	1.305	0.80722	D	1	B;P	0.36660	0.043;0.564	B;B	0.35413	0.02;0.202	T	0.71384	-0.4609	9	0.62326	D	0.03	.	11.1718	0.48575	0.1743:0.0:0.8257:0.0	.	308;376	B7Z265;Q14807	.;KIF22_HUMAN	K	376;308	ENSP00000160827:E376K;ENSP00000383562:E308K	ENSP00000160827:E376K	E	+	1	0	KIF22	29718585	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	6.475000	0.73582	1.523000	0.49018	0.655000	0.94253	GAG		0.532	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215012.2			13	35	0	0	0	0.013537	0	13	35				
DMRTA1	63951	broad.mit.edu	37	9	22451226	22451226	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr9:22451226C>G	ENST00000325870.2	+	2	1056	c.831C>G	c.(829-831)atC>atG	p.I277M		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	277					male mating behavior (GO:0060179)|ovarian follicle development (GO:0001541)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		CTGATAGTATCCTGTCTCCTC	0.438																																						ENST00000325870.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(829-831)atC>atG		DMRT-like family A1							81.0	78.0	79.0					9																	22451226		2203	4300	6503	SO:0001583	missense	63951				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:22451226C>G	AJ290954	CCDS6514.1	9p21.3	2008-05-15			ENSG00000176399	ENSG00000176399			13826	protein-coding gene	gene with protein product		614803					Standard	NM_022160		Approved		uc003zpp.1	Q5VZB9	OTTHUMG00000019693	ENST00000325870.2:c.831C>G	9.37:g.22451226C>G	ENSP00000319651:p.Ile277Met						p.I277M	NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)	2	1056	+		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)	277					A1L481|Q8N8Y9|Q9H4B9	Missense_Mutation	SNP	ENST00000325870.2	37	c.831C>G	CCDS6514.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430582	0.25726	.	.	ENSG00000176399	ENST00000325870	T	0.36157	1.27	5.87	1.15	0.20763	.	1.384520	0.03889	N	0.278307	T	0.41534	0.1163	M	0.66939	2.045	0.09310	N	1	P	0.45396	0.857	B	0.44278	0.445	T	0.29518	-1.0009	10	0.31617	T	0.26	-1.941	7.379	0.26845	0.0:0.3832:0.0:0.6168	.	277	Q5VZB9	DMRTA_HUMAN	M	277	ENSP00000319651:I277M	ENSP00000319651:I277M	I	+	3	3	DMRTA1	22441226	0.027000	0.19231	0.001000	0.08648	0.001000	0.01503	0.636000	0.24644	0.388000	0.25054	0.655000	0.94253	ATC		0.438	DMRTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051935.2			39	66	0	0	0	0.008740	0	39	66				
RBM43	375287	broad.mit.edu	37	2	152107860	152107860	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:152107860C>T	ENST00000331426.5	-	4	785	c.634G>A	c.(634-636)Gag>Aag	p.E212K		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	212							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		CTAGCAGTCTCAGGTACTAAG	0.393																																						ENST00000331426.5																			0				endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8						c.(634-636)Gag>Aag		RNA binding motif protein 43							124.0	121.0	122.0					2																	152107860		2203	4300	6503	SO:0001583	missense	375287						nucleotide binding|RNA binding	g.chr2:152107860C>T	AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"""RNA binding motif (RRM) containing"""	24790	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 38"""	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.634G>A	2.37:g.152107860C>T	ENSP00000331211:p.Glu212Lys						p.E212K	NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	4	785	-			212					B2RMT5	Missense_Mutation	SNP	ENST00000331426.5	37	c.634G>A	CCDS2191.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273619	0.40194	.	.	ENSG00000184898	ENST00000331426	T	0.51325	0.71	5.38	1.33	0.21861	.	0.595854	0.16624	N	0.206369	T	0.29783	0.0744	N	0.19112	0.55	0.09310	N	0.999991	B	0.23377	0.084	B	0.21917	0.037	T	0.19063	-1.0317	10	0.42905	T	0.14	-1.8911	8.7379	0.34539	0.0:0.6537:0.0:0.3463	.	212	Q6ZSC3	RBM43_HUMAN	K	212	ENSP00000331211:E212K	ENSP00000331211:E212K	E	-	1	0	RBM43	151816106	0.000000	0.05858	0.001000	0.08648	0.098000	0.18820	-0.175000	0.09825	0.401000	0.25424	0.655000	0.94253	GAG		0.393	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254816.2	NM_198557		48	127	0	0	0	0.014410	0	48	127				
FBXO38	81545	broad.mit.edu	37	5	147796565	147796565	+	Silent	SNP	T	T	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:147796565T>G	ENST00000340253.5	+	12	1584	c.1416T>G	c.(1414-1416)gcT>gcG	p.A472A	FBXO38_ENST00000513826.1_Silent_p.A472A|FBXO38_ENST00000296701.6_Silent_p.A472A|FBXO38_ENST00000394370.3_Silent_p.A472A			Q6PIJ6	FBX38_HUMAN	F-box protein 38	472					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGTTGTGCTCGAGTTGGTC	0.373																																						ENST00000340253.5																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(1414-1416)gcT>gcG		F-box protein 38							143.0	123.0	130.0					5																	147796565		2203	4300	6503	SO:0001819	synonymous_variant	81545					cytoplasm|nucleus		g.chr5:147796565T>G	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.1416T>G	5.37:g.147796565T>G						FBXO38_ENST00000296701.6_Silent_p.A472A|FBXO38_ENST00000513826.1_Silent_p.A472A|FBXO38_ENST00000394370.3_Silent_p.A472A	p.A472A			Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	1584	+			472					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Silent	SNP	ENST00000340253.5	37	c.1416T>G																																																																																					0.373	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		18	50	0	0	0	0.010504	0	18	50				
SSH2	85464	broad.mit.edu	37	17	27959836	27959836	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:27959836C>G	ENST00000269033.3	-	15	2446	c.2295G>C	c.(2293-2295)caG>caC	p.Q765H	SSH2_ENST00000540801.1_Missense_Mutation_p.Q792H|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	765					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAGTTGAATCTGCCCAACTC	0.468																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2293-2295)caG>caC		slingshot protein phosphatase 2							89.0	77.0	81.0					17																	27959836		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27959836C>G	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.2295G>C	17.37:g.27959836C>G	ENSP00000269033:p.Gln765His					RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.Q792H	p.Q765H	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			15	2446	-			765					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.2295G>C	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.371154	0.61624	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.35421	1.31;1.31	5.78	4.81	0.61882	.	0.234226	0.38492	N	0.001667	T	0.49287	0.1548	M	0.64997	1.995	0.80722	D	1	D;D	0.71674	0.998;0.996	D;P	0.65443	0.935;0.862	T	0.53070	-0.8490	10	0.66056	D	0.02	-12.0362	4.6982	0.12815	0.1262:0.6159:0.1219:0.136	.	792;765	F5H527;Q76I76	.;SSH2_HUMAN	H	765;792	ENSP00000269033:Q765H;ENSP00000444743:Q792H	ENSP00000269033:Q765H	Q	-	3	2	SSH2	24983962	0.903000	0.30736	1.000000	0.80357	0.982000	0.71751	0.237000	0.17985	1.594000	0.50039	0.655000	0.94253	CAG		0.468	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		36	63	0	0	0	0.017118	0	36	63				
SLC28A2	9153	broad.mit.edu	37	15	45564978	45564978	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr15:45564978C>G	ENST00000347644.3	+	17	1920	c.1855C>G	c.(1855-1857)Cag>Gag	p.Q619E	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA|SLC28A2_ENST00000560767.1_3'UTR	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	619					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)	p.Q619E(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	AGGGCTCTTTCAGAGGTGAGC	0.522																																					NSCLC(92;493 1501 26361 28917 47116)	ENST00000347644.3																			1	Substitution - Missense(1)	p.Q619E(1)	lung(1)	NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26						c.(1855-1857)Cag>Gag		solute carrier family 28 (concentrative nucleoside transporter), member 2							61.0	57.0	58.0					15																	45564978		2198	4298	6496	SO:0001583	missense	9153				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	g.chr15:45564978C>G	U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"""Solute carriers"""	11002	protein-coding gene	gene with protein product		606208	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"""			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.1855C>G	15.37:g.45564978C>G	ENSP00000315006:p.Gln619Glu					CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA|SLC28A2_ENST00000560767.1_3'UTR	p.Q619E	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	17	1920	+		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	619					A8K7F9|O43239|Q52LZ0	Missense_Mutation	SNP	ENST00000347644.3	37	c.1855C>G	CCDS10121.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.767500	0.49574	.	.	ENSG00000137860	ENST00000347644	T	0.01613	4.73	5.99	5.99	0.97316	.	0.341315	0.34580	N	0.003845	T	0.03871	0.0109	M	0.74881	2.28	0.32958	D	0.52059	B	0.14012	0.009	B	0.13407	0.009	T	0.13072	-1.0523	10	0.22706	T	0.39	-1.5246	15.9778	0.80083	0.0:1.0:0.0:0.0	.	619	O43868	S28A2_HUMAN	E	619	ENSP00000315006:Q619E	ENSP00000315006:Q619E	Q	+	1	0	SLC28A2	43352270	0.996000	0.38824	1.000000	0.80357	0.949000	0.60115	2.156000	0.42310	2.840000	0.97914	0.655000	0.94253	CAG		0.522	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212		22	51	0	0	0	0.016522	0	22	51				
MYH13	8735	broad.mit.edu	37	17	10219279	10219279	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:10219279C>T	ENST00000418404.3	-	27	3965	c.3802G>A	c.(3802-3804)Gag>Aag	p.E1268K	MYH13_ENST00000252172.4_Missense_Mutation_p.E1268K|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1268					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						GTCTGTTGCTCGTCCTTGGCT	0.463																																						ENST00000418404.3																			0				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						c.(3802-3804)Gag>Aag		myosin, heavy chain 13, skeletal muscle							232.0	224.0	227.0					17																	10219279		2010	4169	6179	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10219279C>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.3802G>A	17.37:g.10219279C>T	ENSP00000404570:p.Glu1268Lys					MYH13_ENST00000570743.1_Missense_Mutation_p.E1268K|MYH13_ENST00000252172.4_Missense_Mutation_p.E1268K	p.E1268K			Q9UKX3	MYH13_HUMAN			27	3965	-			1268					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.3802G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504850	0.85176	.	.	ENSG00000006788	ENST00000252172	T	0.79352	-1.26	4.36	4.36	0.52297	Myosin tail (1);	.	.	.	.	D	0.89273	0.6668	M	0.93420	3.415	0.42333	D	0.992305	B	0.27264	0.173	P	0.45946	0.498	D	0.90932	0.4791	9	0.72032	D	0.01	.	17.2531	0.87048	0.0:1.0:0.0:0.0	.	1268	Q9UKX3	MYH13_HUMAN	K	1268	ENSP00000252172:E1268K	ENSP00000252172:E1268K	E	-	1	0	MYH13	10160004	1.000000	0.71417	0.966000	0.40874	0.534000	0.34807	7.682000	0.84083	2.124000	0.65301	0.551000	0.68910	GAG		0.463	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		48	156	0	0	0	0.014410	0	48	156				
FAM90A1	55138	broad.mit.edu	37	12	8374610	8374610	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:8374610G>A	ENST00000538603.1	-	7	1761	c.1203C>T	c.(1201-1203)aaC>aaT	p.N401N	FAM90A1_ENST00000307435.6_Silent_p.N401N	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	401							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TCCAGCGTCCGTTTTCCAGTC	0.622																																						ENST00000538603.1																			0				endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1201-1203)aaC>aaT		family with sequence similarity 90, member A1							16.0	21.0	19.0					12																	8374610		2056	3929	5985	SO:0001819	synonymous_variant	55138						nucleic acid binding|zinc ion binding	g.chr12:8374610G>A	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.1203C>T	12.37:g.8374610G>A						FAM90A1_ENST00000307435.6_Silent_p.N401N	p.N401N	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN		Kidney(36;0.0866)	7	1761	-			401					D3DUU9|Q9NVZ6	Silent	SNP	ENST00000538603.1	37	c.1203C>T	CCDS31738.1																																																																																				0.622	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088		15	41	0	0	0	0.004990	0	15	41				
TADA3	10474	broad.mit.edu	37	3	9828794	9828794	+	Splice_Site	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr3:9828794C>T	ENST00000301964.2	-	6	1265		c.e6-1		TADA3_ENST00000343450.2_Splice_Site|TADA3_ENST00000492635.1_5'Flank|TADA3_ENST00000440161.1_Splice_Site	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						GCATCCACATCTAAGCGGGCA	0.597											OREG0015382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000343450.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						c.e6-1		transcriptional adaptor 3							99.0	106.0	103.0					3																	9828794		2203	4300	6503	SO:0001630	splice_region_variant	10474				estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr3:9828794C>T	AF069733	CCDS2583.1, CCDS2584.1	3p25.3	2010-08-13	2009-10-02	2009-10-02	ENSG00000171148	ENSG00000171148			19422	protein-coding gene	gene with protein product		602945	"""transcriptional adaptor 3 (NGG1 homolog, yeast)-like"""	TADA3L		9674425, 11707411	Standard	NM_006354		Approved	FLJ20221, FLJ21329, ADA3, hADA3, NGG1	uc010hcn.2	O75528	OTTHUMG00000128440	ENST00000301964.2:c.707-1G>A	3.37:g.9828794C>T			OREG0015382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	659	TADA3_ENST00000301964.2_Splice_Site|TADA3_ENST00000440161.1_Splice_Site		NM_133480.1	NP_597814.1	O75528	TADA3_HUMAN			6	1254	-								Q6FI83|Q9UFS2	Splice_Site	SNP	ENST00000301964.2	37		CCDS2583.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256892	0.80246	.	.	ENSG00000171148	ENST00000301964;ENST00000440161;ENST00000343450	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.798	0.96494	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TADA3	9803794	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	7.410000	0.80065	2.677000	0.91161	0.563000	0.77884	.		0.597	TADA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250236.1		Intron	64	212	0	0	0	0.014410	0	64	212				
MYH7	4625	broad.mit.edu	37	14	23898464	23898464	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr14:23898464C>T	ENST00000355349.3	-	13	1393	c.1231G>A	c.(1231-1233)Gtc>Atc	p.V411I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	411	Myosin motor.		V -> I (in CMH1). {ECO:0000269|PubMed:12974739, ECO:0000269|PubMed:12975413, ECO:0000269|PubMed:15858117}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCCTTGGTGACGTACTCATTG	0.567																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	GRCh37	CM032602	MYH7	M		c.(1231-1233)Gtc>Atc		myosin, heavy chain 7, cardiac muscle, beta							158.0	134.0	142.0					14																	23898464		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23898464C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1231G>A	14.37:g.23898464C>T	ENSP00000347507:p.Val411Ile						p.V411I	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	13	1393	-	all_cancers(95;2.54e-05)		411		V -> I (in CMH1).	Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.1231G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	c	20.6	4.025763	0.75390	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.88896	-2.44	4.04	4.04	0.47022	Myosin head, motor domain (2);	.	.	.	.	D	0.92218	0.7532	L	0.48362	1.52	0.80722	D	1	D	0.57571	0.98	D	0.77004	0.989	D	0.93171	0.6566	9	0.66056	D	0.02	.	16.3734	0.83374	0.0:1.0:0.0:0.0	.	411	P12883	MYH7_HUMAN	I	411	ENSP00000347507:V411I	ENSP00000347507:V411I	V	-	1	0	MYH7	22968304	1.000000	0.71417	0.937000	0.37676	0.551000	0.35334	5.787000	0.69013	2.077000	0.62373	0.455000	0.32223	GTC		0.567	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		145	91	0	0	0	0.014410	0	145	91				
CACNA1S	779	broad.mit.edu	37	1	201079386	201079386	+	Missense_Mutation	SNP	G	G	A	rs549107212		TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:201079386G>A	ENST00000362061.3	-	2	390	c.164C>T	c.(163-165)aCg>aTg	p.T55M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.T55M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	55					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CAAGATGATCGTCTCGAAGGG	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		23524	0.001		0.0	False		,,,				2504	0.0					ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(163-165)aCg>aTg		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						140.0	108.0	119.0					1																	201079386		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201079386G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.164C>T	1.37:g.201079386G>A	ENSP00000355192:p.Thr55Met					CACNA1S_ENST00000367338.3_Missense_Mutation_p.T55M	p.T55M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			2	390	-			55					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.164C>T	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080329	0.36662	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	T;T	0.54279	0.58;0.58	4.86	1.91	0.25777	.	0.115664	0.56097	N	0.000022	T	0.16981	0.0408	N	0.00335	-1.625	0.30009	N	0.815344	B	0.21520	0.057	B	0.17979	0.02	T	0.19614	-1.0300	10	0.56958	D	0.05	.	8.1481	0.31124	0.3886:0.0:0.6114:0.0	.	55	Q13698	CAC1S_HUMAN	M	55	ENSP00000355192:T55M;ENSP00000356307:T55M	ENSP00000355192:T55M	T	-	2	0	CACNA1S	199346009	0.999000	0.42202	0.835000	0.33067	0.977000	0.68977	2.788000	0.47806	0.559000	0.29153	0.561000	0.74099	ACG		0.572	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		24	53	0	0	0	0.018920	0	24	53				
SALL3	27164	broad.mit.edu	37	18	76754267	76754267	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr18:76754267G>A	ENST00000537592.2	+	2	2276	c.2276G>A	c.(2275-2277)cGc>cAc	p.R759H	SALL3_ENST00000536229.3_Missense_Mutation_p.R626H|SALL3_ENST00000575389.2_Missense_Mutation_p.R759H	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	759					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CAGCACATCCGCATGCACATG	0.657																																						ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(1876-1878)cGc>cAc		spalt-like transcription factor 3							75.0	66.0	69.0					18																	76754267		2203	4300	6503	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754267G>A	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2276G>A	18.37:g.76754267G>A	ENSP00000441823:p.Arg759His					SALL3_ENST00000575389.2_Missense_Mutation_p.R759H|SALL3_ENST00000537592.2_Missense_Mutation_p.R759H	p.R626H			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	2586	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	759					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.1877G>A	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577086	0.45902	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.10763	2.84	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000018	T	0.33789	0.0875	M	0.66506	2.035	0.80722	D	1	D;D	0.89917	0.988;1.0	P;D	0.91635	0.866;0.999	T	0.03112	-1.1071	10	0.59425	D	0.04	-51.8625	18.7528	0.91821	0.0:0.0:1.0:0.0	.	491;759	F5GXY4;Q9BXA9	.;SALL3_HUMAN	H	759;759;491	ENSP00000441823:R759H	ENSP00000299466:R759H	R	+	2	0	SALL3	74855255	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	9.787000	0.99055	2.430000	0.82344	0.561000	0.74099	CGC		0.657	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		13	45	0	0	0	0.016723	0	13	45				
NR5A2	2494	broad.mit.edu	37	1	200014674	200014674	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:200014674G>A	ENST00000367362.3	+	4	671	c.425G>A	c.(424-426)cGt>cAt	p.R142H	NR5A2_ENST00000544748.1_Missense_Mutation_p.R70H|NR5A2_ENST00000236914.3_Missense_Mutation_p.R96H	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	142					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CCTTACTGTCGTTTTCAAAAA	0.343																																					Melanoma(179;1138 2773 15678 26136)	ENST00000367362.3																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(424-426)cGt>cAt		nuclear receptor subfamily 5, group A, member 2							96.0	97.0	96.0					1																	200014674		2203	4300	6503	SO:0001583	missense	2494				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200014674G>A	U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.425G>A	1.37:g.200014674G>A	ENSP00000356331:p.Arg142His					NR5A2_ENST00000236914.3_Missense_Mutation_p.R96H|NR5A2_ENST00000544748.1_Missense_Mutation_p.R70H	p.R142H	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN			4	671	+	Prostate(682;0.19)		142					B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	ENST00000367362.3	37	c.425G>A	CCDS1401.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.157245|5.157245	0.94686|0.94686	.|.	.|.	ENSG00000116833|ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000544748;ENST00000235480|ENST00000367357	D;D;D|.	0.98585|.	-5.01;-5.01;-5.01|.	5.5|5.5	5.5|5.5	0.81552|0.81552	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91389|0.91389	0.7283|0.7283	H|H	0.98951|0.98951	4.38|4.38	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.94446|0.94446	0.7663|0.7663	9|5	.|.	.|.	.|.	.|.	19.7485|19.7485	0.96259|0.96259	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	96;142|.	F1D8R9;O00482|.	.;NR5A2_HUMAN|.	H|I	142;96;70;62|63	ENSP00000356331:R142H;ENSP00000236914:R96H;ENSP00000439116:R70H|.	.|.	R|V	+|+	2|1	0|0	NR5A2|NR5A2	198281297|198281297	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.747000|9.747000	0.98863|0.98863	2.742000|2.742000	0.94016|0.94016	0.655000|0.655000	0.94253|0.94253	CGT|GTT		0.343	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2			22	73	0	0	0	0.016522	0	22	73				
IGKV1D-16	28901	broad.mit.edu	37	2	90139282	90139282	+	RNA	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:90139282C>T	ENST00000492446.1	+	0	82									immunoglobulin kappa variable 1D-16																		TTTCCAATCTCAGGTGCCAGA	0.453																																						ENST00000492446.1																			0																				62.0	62.0	62.0					2																	90139282		1807	4050	5857			28901							g.chr2:90139282C>T	K01323		2p11.2	2012-02-08			ENSG00000241244	ENSG00000241244		"""Immunoglobulins / IGK locus"""	5748	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151569		2.37:g.90139282C>T														0	82	+									RNA	SNP	ENST00000492446.1	37																																																																																						0.453	IGKV1D-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323144.2	NG_000833		33	136	0	0	0	0.014410	0	33	136				
ZFYVE16	9765	broad.mit.edu	37	5	79743947	79743947	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:79743947C>G	ENST00000338008.5	+	7	3007	c.2827C>G	c.(2827-2829)Cag>Gag	p.Q943E	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.Q943E|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.Q943E	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	943					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TCCTATTTCTCAGGTTCCATC	0.373																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			0				breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(2827-2829)Cag>Gag		zinc finger, FYVE domain containing 16							102.0	101.0	101.0					5																	79743947		2203	4300	6503	SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79743947C>G	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.2827C>G	5.37:g.79743947C>G	ENSP00000337159:p.Gln943Glu					ZFYVE16_ENST00000505560.1_Missense_Mutation_p.Q943E|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.Q943E	p.Q943E	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	7	3007	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	943					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.2827C>G	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	C	0.925	-0.714717	0.03206	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.36878	1.23;1.23;1.23	5.32	2.34	0.29019	.	1.012530	0.07916	N	0.975140	T	0.27629	0.0679	L	0.51422	1.61	0.22571	N	0.998971	B	0.02656	0.0	B	0.01281	0.0	T	0.39121	-0.9629	10	0.02654	T	1	0.1185	7.8557	0.29480	0.1717:0.4953:0.333:0.0	.	943	Q7Z3T8	ZFY16_HUMAN	E	943	ENSP00000337159:Q943E;ENSP00000423663:Q943E;ENSP00000426848:Q943E	ENSP00000337159:Q943E	Q	+	1	0	ZFYVE16	79779703	0.514000	0.26202	0.731000	0.30826	0.894000	0.52154	0.268000	0.18571	1.339000	0.45563	0.650000	0.86243	CAG		0.373	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		27	95	0	0	0	0.006320	0	27	95				
PHLDB2	90102	broad.mit.edu	37	3	111688638	111688638	+	Silent	SNP	A	A	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr3:111688638A>G	ENST00000431670.2	+	16	3828	c.3417A>G	c.(3415-3417)gtA>gtG	p.V1139V	PHLDB2_ENST00000393923.3_Silent_p.V1123V|PHLDB2_ENST00000481953.1_Silent_p.V1096V|PHLDB2_ENST00000495180.1_Silent_p.V630V|PHLDB2_ENST00000412622.1_Silent_p.V1096V|PHLDB2_ENST00000393925.3_Silent_p.V1139V	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1139						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GTTACCATGTATCAATCACAG	0.458																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(3415-3417)gtA>gtG		pleckstrin homology-like domain, family B, member 2							119.0	122.0	121.0					3																	111688638		2203	4300	6503	SO:0001819	synonymous_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111688638A>G		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.3417A>G	3.37:g.111688638A>G						PHLDB2_ENST00000495180.1_Silent_p.V630V|PHLDB2_ENST00000481953.1_Silent_p.V1096V|PHLDB2_ENST00000412622.1_Silent_p.V1096V|PHLDB2_ENST00000393923.3_Silent_p.V1123V|PHLDB2_ENST00000393925.3_Silent_p.V1139V	p.V1139V	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			16	3828	+			1139					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	37	c.3417A>G	CCDS46886.1																																																																																				0.458	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		27	87	0	0	0	0.024334	0	27	87				
MYH13	8735	broad.mit.edu	37	17	10231229	10231229	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:10231229A>T	ENST00000418404.3	-	21	2808	c.2645T>A	c.(2644-2646)gTc>gAc	p.V882D	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.V882D			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	882					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						CAGGAGGGAGACCATTTTCTC	0.527											OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000418404.3																			0				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						c.(2644-2646)gTc>gAc		myosin, heavy chain 13, skeletal muscle							73.0	77.0	76.0					17																	10231229		2186	4299	6485	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10231229A>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.2645T>A	17.37:g.10231229A>T	ENSP00000404570:p.Val882Asp		OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	663	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000570743.1_Missense_Mutation_p.V882D|MYH13_ENST00000252172.4_Missense_Mutation_p.V882D	p.V882D			Q9UKX3	MYH13_HUMAN			21	2808	-			882					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.2645T>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.565229	0.86439	.	.	ENSG00000006788	ENST00000252172	D	0.94537	-3.45	4.01	4.01	0.46588	.	.	.	.	.	D	0.96555	0.8876	M	0.83692	2.655	0.58432	D	0.999999	B	0.31625	0.332	P	0.49637	0.617	D	0.97391	0.9989	9	0.87932	D	0	.	13.4056	0.60911	1.0:0.0:0.0:0.0	.	882	Q9UKX3	MYH13_HUMAN	D	882	ENSP00000252172:V882D	ENSP00000252172:V882D	V	-	2	0	MYH13	10171954	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.319000	0.79040	1.815000	0.52974	0.460000	0.39030	GTC		0.527	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		17	74	0	0	0	0.006122	0	17	74				
TMEM161A	54929	broad.mit.edu	37	19	19230817	19230817	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:19230817G>A	ENST00000162044.9	-	12	1426	c.1362C>T	c.(1360-1362)ctC>ctT	p.L454L	TMEM161A_ENST00000450333.2_Silent_p.L351L|TMEM161A_ENST00000587583.2_Silent_p.L429L	NM_017814.2	NP_060284.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	454					cellular response to oxidative stress (GO:0034599)|cellular response to UV (GO:0034644)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of DNA repair (GO:0045739)|response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			TCCACCAGATGAGGTAGGCCA	0.662																																						ENST00000450333.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1051-1053)ctC>ctT		transmembrane protein 161A							20.0	21.0	21.0					19																	19230817		2190	4284	6474	SO:0001819	synonymous_variant	54929				cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane		g.chr19:19230817G>A	BC005210	CCDS12393.1, CCDS58656.1	19p13.11	2008-02-05				ENSG00000064545			26020	protein-coding gene	gene with protein product						12975309	Standard	NM_017814		Approved	FLJ39645, FLJ20422	uc002nlg.4	Q9NX61		ENST00000162044.9:c.1362C>T	19.37:g.19230817G>A						TMEM161A_ENST00000162044.9_Silent_p.L454L|TMEM161A_ENST00000587583.2_Silent_p.L429L	p.L351L	NM_001256766.1	NP_001243695.1	Q9NX61	T161A_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)		10	1090	-			454					B3KUE0|G5E9M6|Q7L2Y1	Silent	SNP	ENST00000162044.9	37	c.1053C>T	CCDS12393.1																																																																																				0.662	TMEM161A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460089.2	NM_017814		4	7	0	0	0	0.009096	0	4	7				
DNHD1	144132	broad.mit.edu	37	11	6540999	6540999	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr11:6540999C>T	ENST00000527990.2	+	6	1562	c.1562C>T	c.(1561-1563)gCc>gTc	p.A521V	DNHD1_ENST00000354685.3_Missense_Mutation_p.A521V|DNHD1_ENST00000254579.6_Missense_Mutation_p.A521V			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	521					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGAAAGTTTGCCCGCCTGGTT	0.522																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(1561-1563)gCc>gTc		dynein heavy chain domain 1							109.0	100.0	103.0					11																	6540999		2201	4296	6497	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6540999C>T	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.1562C>T	11.37:g.6540999C>T	ENSP00000436180:p.Ala521Val					DNHD1_ENST00000354685.3_Missense_Mutation_p.A521V|DNHD1_ENST00000527990.2_Missense_Mutation_p.A521V	p.A521V	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	8	2126	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	521					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.1562C>T	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.472706	0.63737	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.23950	1.88;2.83;1.88	5.71	3.69	0.42338	.	0.105490	0.42548	D	0.000685	T	0.30262	0.0759	L	0.32530	0.975	0.27320	N	0.957056	D;P	0.76494	0.999;0.734	D;B	0.75484	0.986;0.421	T	0.09058	-1.0692	10	0.06757	T	0.87	.	8.5015	0.33161	0.1751:0.6561:0.1688:0.0	.	521;521	Q96M86;Q96M86-4	DNHD1_HUMAN;.	V	521	ENSP00000254579:A521V;ENSP00000346716:A521V;ENSP00000436180:A521V	ENSP00000254579:A521V	A	+	2	0	DNHD1	6497575	1.000000	0.71417	0.988000	0.46212	0.590000	0.36582	1.602000	0.36783	1.373000	0.46208	0.563000	0.77884	GCC		0.522	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		4	101	0	0	0	0.009096	0	4	101				
NIPBL	25836	broad.mit.edu	37	5	36986387	36986387	+	Silent	SNP	A	A	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:36986387A>G	ENST00000282516.8	+	10	3604	c.3105A>G	c.(3103-3105)ccA>ccG	p.P1035P	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Silent_p.P1035P	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1035					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGAATAAACCATCAAAGTCAA	0.274																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(3103-3105)ccA>ccG		Nipped-B homolog (Drosophila)							53.0	59.0	57.0					5																	36986387		2195	4293	6488	SO:0001819	synonymous_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36986387A>G	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3105A>G	5.37:g.36986387A>G						NIPBL_ENST00000448238.2_Silent_p.P1035P|NIPBL_ENST00000504430.1_3'UTR	p.P1035P	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		10	3604	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1035					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	c.3105A>G	CCDS3920.1																																																																																				0.274	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		36	102	0	0	0	0.021022	0	36	102				
EPHA5	2044	broad.mit.edu	37	4	66230776	66230776	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr4:66230776T>G	ENST00000273854.3	-	12	2795	c.2195A>C	c.(2194-2196)gAt>gCt	p.D732A	EPHA5_ENST00000511294.1_Missense_Mutation_p.D733A|EPHA5_ENST00000432638.2_Missense_Mutation_p.D569A|EPHA5_ENST00000354839.4_Missense_Mutation_p.D710A	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	732	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GTTAGGATGATCAAACTGTCC	0.373										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(2194-2196)gAt>gCt		EPH receptor A5							227.0	216.0	220.0					4																	66230776		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66230776T>G	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2195A>C	4.37:g.66230776T>G	ENSP00000273854:p.Asp732Ala	TSP Lung(17;0.13)				EPHA5_ENST00000432638.2_Missense_Mutation_p.D569A|EPHA5_ENST00000354839.4_Missense_Mutation_p.D710A|EPHA5_ENST00000511294.1_Missense_Mutation_p.D733A	p.D732A	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			12	2795	-			732			Protein kinase.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.2195A>C	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.891678	0.91889	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.76	5.76	0.90799	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000010	T	0.70343	0.3213	L	0.37630	1.12	0.54753	D	0.999982	P;D;P;D	0.59767	0.824;0.986;0.79;0.965	P;D;B;P	0.63597	0.532;0.916;0.397;0.693	T	0.73600	-0.3931	10	0.87932	D	0	.	16.0723	0.80943	0.0:0.0:0.0:1.0	.	711;733;710;732	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	A	732;569;710;733	ENSP00000273854:D732A;ENSP00000389208:D569A;ENSP00000346899:D710A;ENSP00000427638:D733A	ENSP00000273854:D732A	D	-	2	0	EPHA5	65913371	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.005000	0.88553	2.199000	0.70637	0.528000	0.53228	GAT		0.373	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		46	177	0	0	0	0.014410	0	46	177				
FAM221B	392307	broad.mit.edu	37	9	35825248	35825248	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr9:35825248C>T	ENST00000423537.2	-	3	990	c.721G>A	c.(721-723)Gcc>Acc	p.A241T	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	F221B_HUMAN	family with sequence similarity 221, member B	241										endometrium(2)|kidney(1)|lung(4)	7						GCATTCAGGGCTGCATCCTTC	0.532																																						ENST00000423537.2																			0				endometrium(2)|kidney(1)|lung(4)	7						c.(721-723)Gcc>Acc		family with sequence similarity 221, member B							75.0	76.0	76.0					9																	35825248		2001	4171	6172	SO:0001583	missense	392307							g.chr9:35825248C>T	BX648702	CCDS43799.1, CCDS43799.2	9p13.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000204930	ENSG00000204930			30762	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 128"""	C9orf128			Standard	NM_001012446		Approved		uc010mlc.2	A6H8Z2	OTTHUMG00000019880	ENST00000423537.2:c.721G>A	9.37:g.35825248C>T	ENSP00000415299:p.Ala241Thr					TMEM8B_ENST00000377996.1_Intron	p.A241T	NM_001012446.3	NP_001012448.2	A6H8Z2	CI128_HUMAN			3	990	-			241					Q5TCW2	Missense_Mutation	SNP	ENST00000423537.2	37	c.721G>A	CCDS43799.2	.	.	.	.	.	.	.	.	.	.	c	17.79	3.476920	0.63849	.	.	ENSG00000204930	ENST00000423537;ENST00000377984	T;T	0.16743	2.32;2.32	5.67	-3.6	0.04570	.	0.856472	0.10004	N	0.728058	T	0.18341	0.0440	M	0.75615	2.305	0.22693	N	0.998846	P	0.52316	0.952	P	0.45310	0.476	T	0.10847	-1.0612	10	0.30854	T	0.27	-3.0581	4.5316	0.12008	0.2422:0.3118:0.0:0.446	.	241	A6H8Z2	CI128_HUMAN	T	241	ENSP00000415299:A241T;ENSP00000367222:A241T	ENSP00000367222:A241T	A	-	1	0	C9orf128	35815248	0.746000	0.28272	0.376000	0.26042	0.966000	0.64601	-0.278000	0.08490	-0.758000	0.04690	0.586000	0.80456	GCC		0.532	FAM221B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355861.1	NM_001012446		49	68	0	0	0	0.014410	0	49	68				
EEF1A1	1915	broad.mit.edu	37	6	74228304	74228304	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr6:74228304C>G	ENST00000316292.9	-	5	1793	c.802G>C	c.(802-804)Gag>Cag	p.E268Q	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.E268Q|EEF1A1_ENST00000309268.6_Missense_Mutation_p.E268Q	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	268					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ACACCAGTCTCCACTCGGCCA	0.418											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000316292.9																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						c.(802-804)Gag>Cag		eukaryotic translation elongation factor 1 alpha 1							70.0	72.0	72.0					6																	74228304		2133	4268	6401	SO:0001583	missense	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74228304C>G	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.802G>C	6.37:g.74228304C>G	ENSP00000339063:p.Glu268Gln		OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	EEF1A1_ENST00000309268.6_Missense_Mutation_p.E268Q|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.E268Q	p.E268Q	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN			5	1793	-			268					P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	c.802G>C	CCDS4980.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.543076|4.543076	0.86022|0.86022	.|.	.|.	ENSG00000156508|ENSG00000156508	ENST00000316292;ENST00000309268;ENST00000331523;ENST00000391977|ENST00000358190	T;T;T|.	0.65916|.	-0.18;-0.18;-0.18|.	4.71|4.71	4.71|4.71	0.59529|0.59529	Translation elongation factor EFTu/EF1A, domain 2 (2);Translation elongation/initiation factor/Ribosomal, beta-barrel (2);|.	0.126928|.	0.50627|.	U|.	0.000107|.	D|D	0.90103|0.90103	0.6908|0.6908	H|H	0.99011|0.99011	4.4|4.4	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.999;0.999;0.999|.	D|D	0.94190|0.94190	0.7440|0.7440	10|6	0.87932|0.72032	D|D	0|0.01	.|.	18.0919|18.0919	0.89478|0.89478	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	268;268;268;268|.	P68104;Q53HR5;Q6IPS9;Q5VTE0|.	EF1A1_HUMAN;.;.;EF1A3_HUMAN|.	Q|A	268;268;268;247|267	ENSP00000339063:E268Q;ENSP00000339053:E268Q;ENSP00000330054:E268Q|.	ENSP00000339053:E268Q|ENSP00000350920:G267A	E|G	-|-	1|2	0|0	EEF1A1|EEF1A1	74285025|74285025	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.442000|7.442000	0.80503|0.80503	2.323000|2.323000	0.78572|0.78572	0.556000|0.556000	0.70494|0.70494	GAG|GGA		0.418	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		17	77	0	0	0	0.016522	0	17	77				
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	byFrequency	TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488													C|||	539	0.107628	0.0083	0.0692	5008	,	,		20710	0.1776		0.1074	False		,,,				2504	0.1973					ENST00000418868.1																			0																																																			220729							g.chr3:197348668C>G																													3.37:g.197348668C>G								NR_003266.2						0	591	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.488	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	171	0	0	0	0.014758	0	4	171				
IRF2	3660	broad.mit.edu	37	4	185311904	185311904	+	Splice_Site	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr4:185311904C>G	ENST00000393593.3	-	8	902		c.e8-1			NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2						blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GTTTCGCTTTCTGTTCACAGA	0.532																																						ENST00000393593.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22						c.e8-1		interferon regulatory factor 2							125.0	106.0	113.0					4																	185311904		2203	4300	6503	SO:0001630	splice_region_variant	3660				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr4:185311904C>G		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.695-1G>C	4.37:g.185311904C>G								NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)	8	902	-		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)						D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Splice_Site	SNP	ENST00000393593.3	37		CCDS3835.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212677	0.79240	.	.	ENSG00000168310	ENST00000393593;ENST00000505067;ENST00000502750	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9948	0.89179	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IRF2	185548898	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.356000	0.66052	2.696000	0.92011	0.557000	0.71058	.		0.532	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1		Intron	27	72	0	0	0	0.009535	0	27	72				
MYF6	4618	broad.mit.edu	37	12	81101864	81101864	+	Silent	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:81101864C>T	ENST00000228641.3	+	1	588	c.366C>T	c.(364-366)gcC>gcT	p.A122A		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	122	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						GAACTGTGGCCAACCCCAACC	0.617																																						ENST00000228641.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						c.(364-366)gcC>gcT		myogenic factor 6 (herculin)							50.0	55.0	54.0					12																	81101864		2203	4299	6502	SO:0001819	synonymous_variant	4618				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr12:81101864C>T		CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"""Basic helix-loop-helix proteins"""	7566	protein-coding gene	gene with protein product	"""muscle-specific regulatory factor 4"""	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.366C>T	12.37:g.81101864C>T							p.A122A	NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN			1	588	+			122			Helix-loop-helix motif.		B2R898|Q53X80|Q6FHI9	Silent	SNP	ENST00000228641.3	37	c.366C>T	CCDS9019.1																																																																																				0.617	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469		15	103	0	0	0	0.010504	0	15	103				
IDH3A	3419	broad.mit.edu	37	15	78454629	78454629	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr15:78454629G>A	ENST00000299518.2	+	6	614	c.531G>A	c.(529-531)aaG>aaA	p.K177K	IDH3A_ENST00000558554.1_Silent_p.K142K|IDH3A_ENST00000561366.1_5'Flank|IDH3A_ENST00000441490.2_Silent_p.K68K|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000559205.1_Intron	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	177					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						GGGCGAGCAAGCGCATTGCTG	0.562																																						ENST00000299518.2																			0				endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						c.(529-531)aaG>aaA		isocitrate dehydrogenase 3 (NAD+) alpha	NADH(DB00157)						151.0	120.0	130.0					15																	78454629		2196	4293	6489	SO:0001819	synonymous_variant	3419				carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chr15:78454629G>A		CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	1.1.1.41		5384	protein-coding gene	gene with protein product	"""H-IDH alpha"", ""isocitric dehydrogenase"", ""isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial"", ""NAD+-specific ICDH"", ""NAD(H)-specific isocitrate dehydrogenase alpha subunit"", ""isocitrate dehydrogenase (NAD+) alpha chain"""	601149				8833160	Standard	NM_005530		Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.531G>A	15.37:g.78454629G>A						IDH3A_ENST00000441490.2_Silent_p.K68K|IDH3A_ENST00000558554.1_Silent_p.K142K|IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000558535.1_3'UTR	p.K177K	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN			6	614	+			177					D3DW83|Q9H3X0	Silent	SNP	ENST00000299518.2	37	c.531G>A	CCDS10297.1																																																																																				0.562	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289799.4	NM_005530		31	118	0	0	0	0.012213	0	31	118				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	167	0	0	0	0.009096	0	3	167				
TPRA1	131601	broad.mit.edu	37	3	127298632	127298632	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr3:127298632G>A	ENST00000355552.3	-	3	585	c.209C>T	c.(208-210)gCg>gTg	p.A70V	TPRA1_ENST00000450633.2_Missense_Mutation_p.A70V|TPRA1_ENST00000489960.1_Missense_Mutation_p.A70V|TPRA1_ENST00000296210.7_Missense_Mutation_p.A70V	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	70					aging (GO:0007568)|G-protein coupled receptor signaling pathway (GO:0007186)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						GCGGATCTTCGCCCGAGCAGA	0.532																																						ENST00000355552.3																			0				endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						c.(208-210)gCg>gTg		transmembrane protein, adipocyte asscociated 1							90.0	93.0	92.0					3																	127298632		2203	4300	6503	SO:0001583	missense	131601				aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity	g.chr3:127298632G>A	AK056759	CCDS3042.1, CCDS46899.1	3q21.2	2012-08-22	2009-07-08	2009-07-08	ENSG00000163870	ENSG00000163870		"""GPCR / Unclassified : 7TM orphan receptors"""	30413	protein-coding gene	gene with protein product	"""transmembrane protein 227"""	608336	"""G protein-coupled receptor 175"""	GPR175		10342878	Standard	NM_001136053		Approved	TPRA40, FLJ32197, TMEM227	uc003ejn.3	Q86W33	OTTHUMG00000159639	ENST00000355552.3:c.209C>T	3.37:g.127298632G>A	ENSP00000347748:p.Ala70Val					TPRA1_ENST00000489960.1_Missense_Mutation_p.A70V|TPRA1_ENST00000450633.2_Missense_Mutation_p.A70V|TPRA1_ENST00000296210.7_Missense_Mutation_p.A70V	p.A70V	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN			3	585	-			70					A8MVB8|D3DNA9|Q8WZ24|Q96AJ6|Q9P2R4	Missense_Mutation	SNP	ENST00000355552.3	37	c.209C>T	CCDS3042.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230951	0.58777	.	.	ENSG00000163870	ENST00000450633;ENST00000296210;ENST00000355552;ENST00000489960;ENST00000490290;ENST00000469111;ENST00000490643	.	.	.	5.09	5.09	0.68999	.	0.049789	0.85682	D	0.000000	T	0.66228	0.2768	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69654	0.959;0.965	T	0.66559	-0.5893	9	0.44086	T	0.13	-29.7766	18.8562	0.92254	0.0:0.0:1.0:0.0	.	70;70	Q86W33-3;Q86W33	.;TPRA1_HUMAN	V	70	.	ENSP00000296210:A70V	A	-	2	0	TPRA1	128781322	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.336000	0.96533	2.511000	0.84671	0.655000	0.94253	GCG		0.532	TPRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356624.1	NM_016372		10	34	0	0	0	0.010729	0	10	34				
ASXL3	80816	broad.mit.edu	37	18	31319619	31319619	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr18:31319619G>C	ENST00000269197.5	+	11	2251	c.2251G>C	c.(2251-2253)Gaa>Caa	p.E751Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	751	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACTTCCTTCAGAAACATCTCC	0.433																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(2251-2253)Gaa>Caa		additional sex combs like 3 (Drosophila)							164.0	165.0	165.0					18																	31319619		1920	4140	6060	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31319619G>C	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.2251G>C	18.37:g.31319619G>C	ENSP00000269197:p.Glu751Gln						p.E751Q	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			11	2251	+			751			Ser-rich.		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.2251G>C	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410225	0.62399	.	.	ENSG00000141431	ENST00000269197	T	0.20069	2.1	6.04	6.04	0.98038	.	0.549745	0.19593	N	0.110564	T	0.42108	0.1188	M	0.65498	2.005	0.43678	D	0.996116	D	0.63880	0.993	P	0.55615	0.78	T	0.02639	-1.1130	10	0.38643	T	0.18	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	751	Q9C0F0	ASXL3_HUMAN	Q	751	ENSP00000269197:E751Q	ENSP00000269197:E751Q	E	+	1	0	ASXL3	29573617	1.000000	0.71417	0.983000	0.44433	0.809000	0.45718	6.473000	0.73572	2.873000	0.98535	0.563000	0.77884	GAA		0.433	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			82	230	0	0	0	0.014410	0	82	230				
TJP1	7082	broad.mit.edu	37	15	30018667	30018667	+	Silent	SNP	A	A	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr15:30018667A>G	ENST00000346128.6	-	18	2802	c.2328T>C	c.(2326-2328)aaT>aaC	p.N776N	TJP1_ENST00000545208.2_Silent_p.N776N|TJP1_ENST00000400011.2_Silent_p.N780N|TJP1_ENST00000356107.6_Silent_p.N776N|RP11-680F8.4_ENST00000560740.1_RNA	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	776	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CATTCATTGAATTTAAGTTAA	0.373																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(2326-2328)aaT>aaC		tight junction protein 1							94.0	87.0	89.0					15																	30018667		1833	4091	5924	SO:0001819	synonymous_variant	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30018667A>G		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.2328T>C	15.37:g.30018667A>G						TJP1_ENST00000356107.6_Silent_p.N776N|TJP1_ENST00000400011.2_Silent_p.N780N|TJP1_ENST00000545208.2_Silent_p.N776N	p.N776N	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	18	2802	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	776			Guanylate kinase-like.		B4E3K1|Q2NKP3|Q4ZGJ6	Silent	SNP	ENST00000346128.6	37	c.2328T>C	CCDS42007.1																																																																																				0.373	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		33	88	0	0	0	0.012213	0	33	88				
TPTE	7179	broad.mit.edu	37	21	10951321	10951321	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr21:10951321G>A	ENST00000361285.4	-	10	720	c.391C>T	c.(391-393)Cta>Tta	p.L131L	TPTE_ENST00000342420.5_Silent_p.L93L|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Silent_p.L113L	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	131					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCAATAGCTAGAGAAATAGAA	0.343																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(337-339)Cta>Tta		transmembrane phosphatase with tensin homology							86.0	94.0	91.0					21																	10951321		2203	4297	6500	SO:0001819	synonymous_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10951321G>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.391C>T	21.37:g.10951321G>A						TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.L131L|TPTE_ENST00000342420.5_Silent_p.L93L	p.L113L	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	9	704	-			131					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Silent	SNP	ENST00000361285.4	37	c.337C>T	CCDS13560.2																																																																																				0.343	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			24	80	0	0	0	0.024334	0	24	80				
SMARCA2	6595	broad.mit.edu	37	9	2039806	2039806	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr9:2039806G>A	ENST00000382203.1	+	4	905	c.696G>A	c.(694-696)caG>caA	p.Q232Q	SMARCA2_ENST00000491574.1_3'UTR|RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000382194.1_Silent_p.Q232Q|SMARCA2_ENST00000349721.2_Silent_p.Q232Q|SMARCA2_ENST00000357248.2_Silent_p.Q232Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	232	Poly-Gln.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcagcagcagcagcagc	0.602																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(694-696)caG>caA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							9.0	12.0	11.0					9																	2039806		2029	3990	6019	SO:0001819	synonymous_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039806G>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.696G>A	9.37:g.2039806G>A						SMARCA2_ENST00000357248.2_Silent_p.Q232Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_Silent_p.Q232Q|SMARCA2_ENST00000349721.2_Silent_p.Q232Q	p.Q232Q			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	905	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	232			Poly-Gln.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	c.696G>A	CCDS34977.1																																																																																				0.602	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		2	1	0	0	0	0.009096	0	2	1				
ITGAE	3682	broad.mit.edu	37	17	3658514	3658514	+	Silent	SNP	G	G	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:3658514G>T	ENST00000263087.4	-	12	1379	c.1281C>A	c.(1279-1281)tcC>tcA	p.S427S		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	427					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ACGCCCCTCCGGACCAGTCAA	0.721																																					NSCLC(182;635 2928 8995 38788)	ENST00000263087.4																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1279-1281)tcC>tcA		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)							4.0	5.0	5.0					17																	3658514		1963	3929	5892	SO:0001819	synonymous_variant	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3658514G>T	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.1281C>A	17.37:g.3658514G>T							p.S427S	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	12	1379	-			427					Q17RS6|Q9NZU9	Silent	SNP	ENST00000263087.4	37	c.1281C>A	CCDS32531.1																																																																																				0.721	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		3	2	1	0	0.004672	0.004672	0.00477916	3	2				
USP44	84101	broad.mit.edu	37	12	95927270	95927270	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:95927270G>A	ENST00000258499.3	-	2	1051	c.763C>T	c.(763-765)Caa>Taa	p.Q255*	USP44_ENST00000552440.1_Nonsense_Mutation_p.Q255*|USP44_ENST00000537435.2_Nonsense_Mutation_p.Q255*|USP44_ENST00000393091.2_Nonsense_Mutation_p.Q255*	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	255					mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						CTGACTTTTTGAGATATTTCA	0.388																																						ENST00000258499.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(763-765)Caa>Taa		ubiquitin specific peptidase 44							120.0	118.0	118.0					12																	95927270		2203	4300	6503	SO:0001587	stop_gained	84101				anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr12:95927270G>A	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.763C>T	12.37:g.95927270G>A	ENSP00000258499:p.Gln255*					USP44_ENST00000537435.2_Nonsense_Mutation_p.Q255*|USP44_ENST00000393091.2_Nonsense_Mutation_p.Q255*|USP44_ENST00000552440.1_Nonsense_Mutation_p.Q255*	p.Q255*	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN			2	1051	-			255					B2RDW3	Nonsense_Mutation	SNP	ENST00000258499.3	37	c.763C>T	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167321	0.57476	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000552440;ENST00000537435	.	.	.	4.96	2.59	0.31030	.	0.648587	0.10838	U	0.628547	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.8481	0.29437	0.0:0.0732:0.1415:0.7853	.	.	.	.	X	255	.	ENSP00000258499:Q255X	Q	-	1	0	USP44	94451401	0.998000	0.40836	0.000000	0.03702	0.012000	0.07955	3.019000	0.49635	0.333000	0.23563	-1.238000	0.01547	CAA		0.388	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		32	206	0	0	0	0.012213	0	32	206				
ZNF292	23036	broad.mit.edu	37	6	87964636	87964636	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr6:87964636G>A	ENST00000369577.3	+	8	1332	c.1289G>A	c.(1288-1290)tGt>tAt	p.C430Y	ZNF292_ENST00000339907.4_Missense_Mutation_p.C425Y	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	430						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TCTTTACGCTGTGAGCTGTTA	0.388																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(1288-1290)tGt>tAt		zinc finger protein 292							73.0	68.0	69.0					6																	87964636		1856	4084	5940	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87964636G>A	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.1289G>A	6.37:g.87964636G>A	ENSP00000358590:p.Cys430Tyr					ZNF292_ENST00000339907.4_Missense_Mutation_p.C425Y	p.C430Y	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	1332	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	430					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.1289G>A	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564185	0.65651	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.42131	0.98;0.98	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.62146	0.2404	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62511	-0.6839	10	0.87932	D	0	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	430	O60281	ZN292_HUMAN	Y	430;425	ENSP00000358590:C430Y;ENSP00000342847:C425Y	ENSP00000342847:C425Y	C	+	2	0	ZNF292	88021355	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.880000	0.98712	0.650000	0.86243	TGT		0.388	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		10	46	0	0	0	0.010729	0	10	46				
CADPS2	93664	broad.mit.edu	37	7	122033249	122033249	+	Splice_Site	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr7:122033249C>T	ENST00000449022.2	-	22	3028		c.e22+1		CADPS2_ENST00000313070.7_Intron|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Splice_Site|RP5-1101C3.1_ENST00000593910.1_RNA	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2						cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GGAATACACACGTGGACTCAT	0.458																																						ENST00000334010.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.e20+1		Ca++-dependent secretion activator 2							57.0	58.0	57.0					7																	122033249		2054	4202	6256	SO:0001630	splice_region_variant	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122033249C>T		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.3008+1G>A	7.37:g.122033249C>T						CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Splice_Site|CADPS2_ENST00000412584.2_Intron|RP5-1101C3.1_ENST00000593910.1_RNA|RP5-1101C3.1_ENST00000591140.1_RNA		NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN			20	3424	-								A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Splice_Site	SNP	ENST00000449022.2	37		CCDS55158.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568915	0.86439	.	.	ENSG00000081803	ENST00000360097;ENST00000334010;ENST00000420900;ENST00000462699;ENST00000449022	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0401	0.97581	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CADPS2	121820485	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.693000	0.68264	2.805000	0.96524	0.655000	0.94253	.		0.458	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954	Intron	8	27	0	0	0	0.003080	0	8	27				
CRB3	92359	broad.mit.edu	37	19	6466612	6466612	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:6466612G>A	ENST00000598494.1	+	4	823	c.292G>A	c.(292-294)Gag>Aag	p.E98K	CRB3_ENST00000600229.1_Missense_Mutation_p.E98K|CRB3_ENST00000308243.7_Missense_Mutation_p.E98K|CRB3_ENST00000356762.3_Missense_Mutation_p.E98K			Q9BUF7	CRUM3_HUMAN	crumbs family member 3	98					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|protein localization to plasma membrane (GO:0072659)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|SH3 domain binding (GO:0017124)			endometrium(1)|large_intestine(1)|lung(1)	3						GCCCAGTAGCGAGGAGCAGGT	0.677																																						ENST00000598494.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(292-294)Gag>Aag		crumbs homolog 3 (Drosophila)							48.0	47.0	48.0					19																	6466612		2203	4300	6503	SO:0001583	missense	92359				protein localization in plasma membrane|tight junction assembly	apical plasma membrane|integral to membrane|tight junction	SH3 domain binding	g.chr19:6466612G>A	AF503290	CCDS12166.1, CCDS12167.1	19p13.3	2014-02-06	2014-02-06		ENSG00000130545	ENSG00000130545			20237	protein-coding gene	gene with protein product		609737	"""crumbs homolog 3 (Drosophila)"""				Standard	XM_005259680		Approved	MGC17303	uc002mez.3	Q9BUF7	OTTHUMG00000181828	ENST00000598494.1:c.292G>A	19.37:g.6466612G>A	ENSP00000469707:p.Glu98Lys					CRB3_ENST00000308243.7_Missense_Mutation_p.E98K|CRB3_ENST00000600229.1_Missense_Mutation_p.E98K|CRB3_ENST00000356762.3_Missense_Mutation_p.E98K	p.E98K			Q9BUF7	CRUM3_HUMAN			4	823	+			98					A8KA91|D6W643|Q8N0V8|Q8WVA0	Missense_Mutation	SNP	ENST00000598494.1	37	c.292G>A	CCDS12167.1	.	.	.	.	.	.	.	.	.	.	G	33	5.197649	0.94997	.	.	ENSG00000130545	ENST00000356762;ENST00000308243	.	.	.	4.95	4.95	0.65309	.	0.000000	0.64402	D	0.000001	T	0.78685	0.4322	M	0.76002	2.32	0.48830	D	0.999712	D;D	0.89917	1.0;1.0	D;D	0.71656	0.974;0.974	T	0.80995	-0.1133	9	0.62326	D	0.03	-29.0819	17.3245	0.87244	0.0:0.0:1.0:0.0	.	98;98	Q9BUF7-2;Q9BUF7	.;CRUM3_HUMAN	K	98	.	ENSP00000310123:E98K	E	+	1	0	CRB3	6417612	1.000000	0.71417	0.956000	0.39512	0.941000	0.58515	3.686000	0.54685	2.476000	0.83614	0.591000	0.81541	GAG		0.677	CRB3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457837.1			21	80	0	0	0	0.014323	0	21	80				
IFFO1	25900	broad.mit.edu	37	12	6659915	6659915	+	Silent	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:6659915C>T	ENST00000396840.2	-	3	917	c.876G>A	c.(874-876)ctG>ctA	p.L292L	IFFO1_ENST00000465801.1_5'UTR|IFFO1_ENST00000356896.4_Silent_p.L292L|IFFO1_ENST00000436152.2_5'UTR|IFFO1_ENST00000336604.4_Silent_p.L292L			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	292						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GTTCCACCTTCAGTGCCAGCT	0.582																																						ENST00000336604.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(874-876)ctG>ctA		intermediate filament family orphan 1							123.0	84.0	97.0					12																	6659915		2203	4300	6503	SO:0001819	synonymous_variant	25900					intermediate filament		g.chr12:6659915C>T	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.876G>A	12.37:g.6659915C>T						IFFO1_ENST00000436152.2_5'UTR|IFFO1_ENST00000356896.4_Silent_p.L292L|IFFO1_ENST00000396840.2_Silent_p.L292L|IFFO1_ENST00000465801.1_5'UTR	p.L292L	NM_080730.4	NP_542768.2	Q0D2I5	IFFO1_HUMAN			3	917	-			292					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Silent	SNP	ENST00000396840.2	37	c.876G>A																																																																																					0.582	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		31	51	0	0	0	0.010818	0	31	51				
ANO4	121601	broad.mit.edu	37	12	101477507	101477507	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:101477507A>G	ENST00000392977.3	+	16	1657	c.1447A>G	c.(1447-1449)Aat>Gat	p.N483D	ANO4_ENST00000392979.3_Missense_Mutation_p.N448D|ANO4_ENST00000550015.1_Intron|ANO4_ENST00000299222.9_Intron			Q32M45	ANO4_HUMAN	anoctamin 4	483					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AGAGCGGATGAATCCAATTTC	0.383										HNSCC(74;0.22)																												ENST00000392979.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(1342-1344)Aat>Gat		anoctamin 4							102.0	106.0	105.0					12																	101477507		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101477507A>G	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1447A>G	12.37:g.101477507A>G	ENSP00000376703:p.Asn483Asp	HNSCC(74;0.22)				ANO4_ENST00000392977.3_Missense_Mutation_p.N483D|ANO4_ENST00000299222.9_Intron|ANO4_ENST00000550015.1_Intron	p.N448D	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			15	1703	+			483					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.1342A>G		.	.	.	.	.	.	.	.	.	.	A	31	5.068243	0.93950	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	T;T	0.62232	0.04;0.04	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.70281	0.3206	L	0.50847	1.595	0.80722	D	1	P;P	0.46457	0.831;0.878	P;P	0.54100	0.742;0.625	T	0.72740	-0.4202	10	0.72032	D	0.01	.	16.3979	0.83621	1.0:0.0:0.0:0.0	.	483;448	Q32M45;Q32M45-2	ANO4_HUMAN;.	D	448;483	ENSP00000376705:N448D;ENSP00000376703:N483D	ENSP00000376703:N483D	N	+	1	0	ANO4	100001638	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.287000	0.95975	2.333000	0.79357	0.533000	0.62120	AAT		0.383	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		36	178	0	0	0	0.023175	0	36	178				
SYCP3	50511	broad.mit.edu	37	12	102127427	102127427	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:102127427G>C	ENST00000392927.3	-	6	510	c.379C>G	c.(379-381)Cag>Gag	p.Q127E	SYCP3_ENST00000392924.1_Missense_Mutation_p.Q127E|SYCP3_ENST00000266743.2_Missense_Mutation_p.Q127E	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	127	Gln-rich.				male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						AGAAACTGCTGAGAATATTCT	0.303																																						ENST00000392927.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						c.(379-381)Cag>Gag		synaptonemal complex protein 3							119.0	111.0	114.0					12																	102127427		2203	4300	6503	SO:0001583	missense	50511				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding	g.chr12:102127427G>C	AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.379C>G	12.37:g.102127427G>C	ENSP00000376658:p.Gln127Glu					SYCP3_ENST00000266743.2_Missense_Mutation_p.Q127E|SYCP3_ENST00000392924.1_Missense_Mutation_p.Q127E	p.Q127E	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN			6	510	-			127			Gln-rich.			Missense_Mutation	SNP	ENST00000392927.3	37	c.379C>G	CCDS9087.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.292778	0.23564	.	.	ENSG00000139351	ENST00000266743;ENST00000392927;ENST00000392924	.	.	.	5.95	4.07	0.47477	.	0.061993	0.64402	N	0.000003	T	0.49830	0.1580	L	0.38953	1.18	0.51012	D	0.999905	B	0.19935	0.04	B	0.28709	0.093	T	0.33954	-0.9848	9	0.07030	T	0.85	-2.977	13.1021	0.59226	0.0:0.1235:0.7478:0.1287	.	127	Q8IZU3	SYCP3_HUMAN	E	127	.	ENSP00000266743:Q127E	Q	-	1	0	SYCP3	100651558	1.000000	0.71417	0.986000	0.45419	0.138000	0.21146	4.638000	0.61353	0.801000	0.34066	0.563000	0.77884	CAG		0.303	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316478.2	NM_153694		57	79	0	0	0	0.014410	0	57	79				
BAI3	577	broad.mit.edu	37	6	70098604	70098604	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr6:70098604G>A	ENST00000370598.1	+	32	5211	c.4390G>A	c.(4390-4392)Gca>Aca	p.A1464T	BAI3_ENST00000238918.8_Missense_Mutation_p.A670T|BAI3_ENST00000546190.1_Missense_Mutation_p.A428T	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1464					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A1464T(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGAAAACCCCGCACCAAACAA	0.448																																						ENST00000370598.1																			1	Substitution - Missense(1)	p.A1464T(1)	urinary_tract(1)	NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(4390-4392)Gca>Aca		brain-specific angiogenesis inhibitor 3							93.0	89.0	90.0					6																	70098604		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70098604G>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.4390G>A	6.37:g.70098604G>A	ENSP00000359630:p.Ala1464Thr					BAI3_ENST00000546190.1_Missense_Mutation_p.A428T|BAI3_ENST00000238918.8_Missense_Mutation_p.A670T	p.A1464T	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			32	5211	+		all_lung(197;0.212)	1464					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.4390G>A	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	1.165	-0.642665	0.03531	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.39056	2.27;2.88;1.1	5.94	4.12	0.48240	.	0.245761	0.49305	N	0.000146	T	0.03871	0.0109	N	0.02539	-0.55	0.26735	N	0.970507	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.001	T	0.43782	-0.9370	10	0.02654	T	1	.	6.8754	0.24143	0.1479:0.0:0.7129:0.1393	.	670;1464	B7Z356;O60242	.;BAI3_HUMAN	T	1464;670;428	ENSP00000359630:A1464T;ENSP00000238918:A670T;ENSP00000441821:A428T	ENSP00000238918:A670T	A	+	1	0	BAI3	70155325	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.770000	0.47662	0.807000	0.34208	0.643000	0.83706	GCA		0.448	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			9	31	0	0	0	0.008291	0	9	31				
CASP8	841	broad.mit.edu	37	2	202151270	202151270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:202151270C>T	ENST00000432109.2	+	10	1582	c.1393C>T	c.(1393-1395)Cag>Tag	p.Q465*	CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q450*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q482*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q381*|CASP8_ENST00000358485.4_Nonsense_Mutation_p.Q524*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	465					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.Q482*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ACAGATGCCTCAGCCTACTTT	0.373										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			1	Substitution - Nonsense(1)	p.Q482*(1)	breast(1)	breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(1570-1572)Cag>Tag		caspase 8, apoptosis-related cysteine peptidase							205.0	182.0	190.0					2																	202151270		2203	4300	6503	SO:0001587	stop_gained	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202151270C>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1393C>T	2.37:g.202151270C>T	ENSP00000412523:p.Gln465*	HNSCC(4;0.00038)				CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q381*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q482*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q450*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.Q465*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR	p.Q524*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			9	1766	+			465					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	ENST00000432109.2	37	c.1570C>T	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833399	0.50951	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	.	.	.	5.86	5.86	0.93980	.	0.478710	0.24200	N	0.040632	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	20.1818	0.98206	0.0:1.0:0.0:0.0	.	.	.	.	X	450;381;465;482;524;450;244	.	ENSP00000264274:Q381X	Q	+	1	0	CASP8	201859515	0.797000	0.28877	0.987000	0.45799	0.013000	0.08279	1.536000	0.36072	2.759000	0.94783	0.650000	0.86243	CAG		0.373	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		36	40	0	0	0	0.017118	0	36	40				
SP4	6671	broad.mit.edu	37	7	21469033	21469033	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr7:21469033C>T	ENST00000222584.3	+	3	468	c.250C>T	c.(250-252)Caa>Taa	p.Q84*		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	84					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GGTGCAACTTCAAAATCAACC	0.433																																						ENST00000222584.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(250-252)Caa>Taa		Sp4 transcription factor							89.0	80.0	83.0					7																	21469033		2203	4300	6503	SO:0001587	stop_gained	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21469033C>T		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.250C>T	7.37:g.21469033C>T	ENSP00000222584:p.Gln84*						p.Q84*	NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN			3	468	+			84					O60402|Q32M52	Nonsense_Mutation	SNP	ENST00000222584.3	37	c.250C>T	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	C	33	5.198927	0.94997	.	.	ENSG00000105866	ENST00000222584	.	.	.	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.0433	0.86495	0.0:1.0:0.0:0.0	.	.	.	.	X	84	.	ENSP00000222584:Q84X	Q	+	1	0	SP4	21435558	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.095000	0.76952	2.238000	0.73509	0.563000	0.77884	CAA		0.433	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		29	69	0	0	0	0.007291	0	29	69				
ANO2	57101	broad.mit.edu	37	12	5941701	5941701	+	Silent	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:5941701C>T	ENST00000356134.5	-	6	764	c.693G>A	c.(691-693)tcG>tcA	p.S231S	ANO2_ENST00000327087.8_Silent_p.S230S|ANO2_ENST00000546188.1_Silent_p.S231S	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	235					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GCTGCAGGTGCGAGCTCAGCT	0.507																																						ENST00000327087.8																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(688-690)tcG>tcA		anoctamin 2							116.0	118.0	118.0					12																	5941701		2071	4217	6288	SO:0001819	synonymous_variant	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5941701C>T	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.693G>A	12.37:g.5941701C>T						ANO2_ENST00000356134.5_Silent_p.S231S|ANO2_ENST00000546188.1_Silent_p.S231S	p.S230S			Q9NQ90	ANO2_HUMAN			5	761	-			235					C4N787|Q9H847	Silent	SNP	ENST00000356134.5	37	c.690G>A																																																																																					0.507	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		18	101	0	0	0	0.004990	0	18	101				
HOXB4	3214	broad.mit.edu	37	17	46654222	46654222	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:46654222G>C	ENST00000332503.5	-	2	2409	c.618C>G	c.(616-618)atC>atG	p.I206M	HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000489475.1_Intron|MIR10A_ENST00000385043.1_RNA|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000311626.4_5'Flank|HOXB3_ENST00000485909.2_5'Flank|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000490677.1_5'Flank	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	206					anterior/posterior pattern specification (GO:0009952)|bone marrow development (GO:0048539)|cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|hematopoietic stem cell differentiation (GO:0060218)|morphogenesis of an epithelial sheet (GO:0002011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell division (GO:0048103)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						ACCAGATCTTGATCTGGCGCT	0.607																																						ENST00000332503.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						c.(616-618)atC>atG		homeobox B4							95.0	101.0	99.0					17																	46654222		2203	4300	6503	SO:0001583	missense	3214					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46654222G>C		CCDS11529.1	17q21.32	2011-06-20	2005-12-22		ENSG00000182742	ENSG00000182742		"""Homeoboxes / ANTP class : HOXL subclass"""	5115	protein-coding gene	gene with protein product		142965	"""homeo box B4"""	HOX2, HOX2F		1973146, 1358459	Standard	NM_024015		Approved		uc002inp.3	P17483	OTTHUMG00000159920	ENST00000332503.5:c.618C>G	17.37:g.46654222G>C	ENSP00000328928:p.Ile206Met					HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000472863.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000498678.1_Intron	p.I206M	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN			2	2409	-			206					Q9NTA0	Missense_Mutation	SNP	ENST00000332503.5	37	c.618C>G	CCDS11529.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476648	0.63737	.	.	ENSG00000182742	ENST00000332503	D	0.97138	-4.26	5.78	3.6	0.41247	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.117112	0.56097	D	0.000026	D	0.98848	0.9611	H	0.97983	4.12	0.58432	D	0.999994	D	0.89917	1.0	D	0.83275	0.996	D	0.98498	1.0613	10	0.87932	D	0	.	8.7793	0.34781	0.1426:0.0:0.7253:0.1322	.	206	P17483	HXB4_HUMAN	M	206	ENSP00000328928:I206M	ENSP00000328928:I206M	I	-	3	3	HOXB4	44009221	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.785000	0.47782	1.432000	0.47375	0.555000	0.69702	ATC		0.607	HOXB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358259.2			62	215	0	0	0	0.014410	0	62	215				
MOGS	7841	broad.mit.edu	37	2	74688809	74688809	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:74688809C>T	ENST00000233616.4	-	4	2269	c.2107G>A	c.(2107-2109)Gac>Aac	p.D703N	MOGS_ENST00000452063.2_Missense_Mutation_p.D597N|MOGS_ENST00000462443.1_5'Flank|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	703					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GAGGTGGGGTCCAGCAGTCGC	0.607																																						ENST00000233616.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(2107-2109)Gac>Aac		mannosyl-oligosaccharide glucosidase							60.0	72.0	68.0					2																	74688809		2023	4179	6202	SO:0001583	missense	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74688809C>T	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.2107G>A	2.37:g.74688809C>T	ENSP00000233616:p.Asp703Asn					MOGS_ENST00000452063.2_Missense_Mutation_p.D597N|MOGS_ENST00000409065.1_3'UTR	p.D703N	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN			4	2269	-			703					A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	c.2107G>A	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.314456	0.23908	.	.	ENSG00000115275	ENST00000233616;ENST00000452063	T;T	0.49432	0.78;0.78	5.01	2.86	0.33363	Six-hairpin glycosidase-like (1);	0.792264	0.12143	N	0.495621	T	0.33323	0.0859	L	0.35288	1.05	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.07328	-1.0778	10	0.25751	T	0.34	-5.3376	6.8802	0.24168	0.0:0.6722:0.0:0.3278	.	703	Q13724	MOGS_HUMAN	N	703;597	ENSP00000233616:D703N;ENSP00000388201:D597N	ENSP00000233616:D703N	D	-	1	0	MOGS	74542317	0.755000	0.28372	1.000000	0.80357	0.853000	0.48598	0.816000	0.27267	0.649000	0.30751	0.462000	0.41574	GAC		0.607	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		28	72	0	0	0	0.027356	0	28	72				
MAGI2	9863	broad.mit.edu	37	7	78131057	78131057	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr7:78131057G>A	ENST00000354212.4	-	5	1055	c.802C>T	c.(802-804)Ccc>Tcc	p.P268S	MAGI2_ENST00000536571.1_Missense_Mutation_p.P100S|MAGI2_ENST00000522391.1_Missense_Mutation_p.P268S|MAGI2_ENST00000535697.1_Missense_Mutation_p.P105S|MAGI2_ENST00000419488.1_Missense_Mutation_p.P268S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	268	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGCTGGGAGGGCATCTCCCCT	0.498																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(802-804)Ccc>Tcc		membrane associated guanylate kinase, WW and PDZ domain containing 2							201.0	162.0	175.0					7																	78131057		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:78131057G>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.802C>T	7.37:g.78131057G>A	ENSP00000346151:p.Pro268Ser					MAGI2_ENST00000536571.1_Missense_Mutation_p.P100S|MAGI2_ENST00000522391.1_Missense_Mutation_p.P268S|MAGI2_ENST00000535697.1_Missense_Mutation_p.P105S|MAGI2_ENST00000419488.1_Missense_Mutation_p.P268S	p.P268S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			5	1055	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	268			Guanylate kinase-like.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.802C>T	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996921	0.35226	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.11821	2.86;2.86;2.74;3.7;3.72	5.9	5.9	0.94986	Guanylate kinase/L-type calcium channel (1);	0.210356	0.23270	U	0.050026	T	0.07143	0.0181	N	0.08118	0	0.34716	D	0.728197	B;B;B;B	0.18310	0.0;0.027;0.0;0.004	B;B;B;B	0.16289	0.004;0.015;0.004;0.004	T	0.23190	-1.0195	10	0.34782	T	0.22	.	8.673	0.34163	0.16:0.0:0.84:0.0	.	105;100;268;268	F5GWH1;F5GWK7;Q86UL8-2;Q86UL8	.;.;.;MAGI2_HUMAN	S	268;268;268;268;100;105	ENSP00000405766:P268S;ENSP00000346151:P268S;ENSP00000428389:P268S;ENSP00000441584:P100S;ENSP00000441603:P105S	ENSP00000346151:P268S	P	-	1	0	MAGI2	77968993	0.999000	0.42202	0.992000	0.48379	0.976000	0.68499	3.126000	0.50477	2.797000	0.96272	0.655000	0.94253	CCC		0.498	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		4	94	0	0	0	0.014758	0	4	94				
SEMA4C	54910	broad.mit.edu	37	2	97526459	97526459	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:97526459G>A	ENST00000305476.5	-	15	2538	c.2406C>T	c.(2404-2406)ctC>ctT	p.L802L	ANKRD39_ENST00000393537.4_5'Flank	NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	802					cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GGGGGTGCCCGAGCCCTCCCC	0.627																																						ENST00000305476.5																			0				NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						c.(2404-2406)ctC>ctT		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C							80.0	84.0	82.0					2																	97526459		2203	4300	6503	SO:0001819	synonymous_variant	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97526459G>A	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10731	protein-coding gene	gene with protein product	"""M-Sema F"""	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.2406C>T	2.37:g.97526459G>A							p.L802L	NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN			15	2538	-			802					Q32MJ3|Q7Z5X0	Silent	SNP	ENST00000305476.5	37	c.2406C>T	CCDS2029.1																																																																																				0.627	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		51	142	0	0	0	0.014410	0	51	142				
DST	667	broad.mit.edu	37	6	56443679	56443679	+	Silent	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr6:56443679C>T	ENST00000361203.3	-	46	12334	c.12327G>A	c.(12325-12327)acG>acA	p.T4109T	DST_ENST00000370769.4_Silent_p.T4111T|DST_ENST00000370788.2_Silent_p.T2023T|DST_ENST00000370754.5_Silent_p.T4289T|DST_ENST00000312431.6_Silent_p.T4109T|DST_ENST00000446842.2_Silent_p.T3785T|DST_ENST00000244364.6_Silent_p.T1697T|DST_ENST00000421834.2_Silent_p.T2023T			Q03001	DYST_HUMAN	dystonin	4109					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)			GCACTTCAGCCGTTTTCTTCA	0.413																																						ENST00000370754.5																			0				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						c.(12865-12867)acG>acA		dystonin							78.0	79.0	79.0					6																	56443679		1840	4087	5927	SO:0001819	synonymous_variant	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|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.chr6:56443679C>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.12327G>A	6.37:g.56443679C>T						DST_ENST00000244364.6_Silent_p.T1697T|DST_ENST00000361203.3_Silent_p.T4109T|DST_ENST00000312431.6_Silent_p.T4109T|DST_ENST00000370769.4_Silent_p.T4111T|DST_ENST00000446842.2_Silent_p.T3785T|DST_ENST00000370788.2_Silent_p.T2023T|DST_ENST00000421834.2_Silent_p.T2023T	p.T4289T			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		50	12866	-	Lung NSC(77;0.103)		4109					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.12867G>A																																																																																					0.413	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		7	22	0	0	0	0.001984	0	7	22				
PLEKHA4	57664	broad.mit.edu	37	19	49368815	49368815	+	Missense_Mutation	SNP	G	G	A	rs556472997		TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:49368815G>A	ENST00000263265.6	-	3	692	c.137C>T	c.(136-138)gCg>gTg	p.A46V	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.A46V	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	46						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CCTCCTGAGCGCATTGCCTCT	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		16719	0.0		0.001	False		,,,				2504	0.0					ENST00000263265.6																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(136-138)gCg>gTg		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4							156.0	119.0	132.0					19																	49368815		2203	4300	6503	SO:0001583	missense	57664					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49368815G>A	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.137C>T	19.37:g.49368815G>A	ENSP00000263265:p.Ala46Val					PLEKHA4_ENST00000355496.5_Missense_Mutation_p.A46V	p.A46V	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	3	692	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	46					Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	c.137C>T	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866932	0.72065	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.12039	2.72;2.72	5.04	5.04	0.67666	.	0.145957	0.42821	N	0.000660	T	0.17789	0.0427	M	0.61703	1.905	0.36740	D	0.882188	P;P	0.52170	0.951;0.602	B;B	0.40134	0.32;0.102	T	0.18777	-1.0326	10	0.72032	D	0.01	.	16.2396	0.82401	0.0:0.0:1.0:0.0	.	46;46	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	V	46	ENSP00000263265:A46V;ENSP00000347683:A46V	ENSP00000263265:A46V	A	-	2	0	PLEKHA4	54060627	1.000000	0.71417	0.951000	0.38953	0.816000	0.46133	7.027000	0.76463	2.503000	0.84419	0.563000	0.77884	GCG		0.572	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			14	53	0	0	0	0.028581	0	14	53				
KIAA1468	57614	broad.mit.edu	37	18	59888730	59888730	+	Splice_Site	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr18:59888730G>A	ENST00000398130.2	+	5	1090	c.858G>A	c.(856-858)caG>caA	p.Q286Q	KIAA1468_ENST00000256858.6_Splice_Site_p.Q286Q	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	286	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.									autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				ACGATGATCAGGTAAAGTTAC	0.239																																						ENST00000256858.6																			0				autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.e5+1		KIAA1468							32.0	30.0	31.0					18																	59888730		1798	4043	5841	SO:0001630	splice_region_variant	57614						binding	g.chr18:59888730G>A	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.858+1G>A	18.37:g.59888730G>A						KIAA1468_ENST00000398130.2_Splice_Site_p.Q286_splice	p.Q286_splice			Q9P260	K1468_HUMAN			5	1106	+		Colorectal(73;0.186)	286			LisH.			Splice_Site	SNP	ENST00000398130.2	37	c.858_splice	CCDS11979.2																																																																																				0.239	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854	Silent	14	51	0	0	0	0.016723	0	14	51				
OSGIN1	29948	broad.mit.edu	37	16	83983085	83983085	+	Missense_Mutation	SNP	C	C	T	rs568526491		TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr16:83983085C>T	ENST00000343939.2	+	1	414	c.31C>T	c.(31-33)Cgg>Tgg	p.R11W	RP11-505K9.4_ENST00000566309.1_3'UTR|RP11-505K9.4_ENST00000561562.1_3'UTR|OSGIN1_ENST00000361711.3_5'UTR			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	11					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						AGGCTGCTGCCGGGGAAATAT	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19375	0.0		0.0	False		,,,				2504	0.0					ENST00000343939.2																			0				autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(31-33)Cgg>Tgg		oxidative stress induced growth inhibitor 1							98.0	76.0	84.0					16																	83983085		2201	4300	6501	SO:0001583	missense	29948				cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83983085C>T	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived growth inhibitor"", ""pregnancy induced growth inhibitor"""	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.31C>T	16.37:g.83983085C>T	ENSP00000343376:p.Arg11Trp					RP11-505K9.4_ENST00000561562.1_RNA|OSGIN1_ENST00000361711.3_5'UTR	p.R11W			Q9UJX0	OSGI1_HUMAN			1	414	+			11					Q52M33|Q86UQ1|Q96S88|Q9BZ70	Missense_Mutation	SNP	ENST00000343939.2	37	c.31C>T		.	.	.	.	.	.	.	.	.	.	C	9.416	1.081732	0.20309	.	.	ENSG00000140961	ENST00000343939	T	0.12147	2.71	2.69	-3.94	0.04130	.	.	.	.	.	T	0.07818	0.0196	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34900	-0.9810	9	0.87932	D	0	.	3.765	0.08619	0.2033:0.4781:0.0:0.3185	.	11	Q9UJX0	OSGI1_HUMAN	W	11	ENSP00000343376:R11W	ENSP00000343376:R11W	R	+	1	2	OSGIN1	82540586	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.338000	0.02655	-1.069000	0.03153	0.563000	0.77884	CGG		0.582	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		42	84	0	0	0	0.009718	0	42	84				
PPP5C	5536	broad.mit.edu	37	19	46891915	46891915	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:46891915G>A	ENST00000012443.4	+	11	1385	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	AC007193.8_ENST00000598616.1_RNA|PPP5C_ENST00000391919.1_Missense_Mutation_p.E300K	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	428	Catalytic.				cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		CCGCAGCCACGAAGTCAAGGC	0.597																																						ENST00000012443.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18						c.(1282-1284)Gaa>Aaa		protein phosphatase 5, catalytic subunit							118.0	99.0	105.0					19																	46891915		2203	4300	6503	SO:0001583	missense	5536				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity	g.chr19:46891915G>A		CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.1282G>A	19.37:g.46891915G>A	ENSP00000012443:p.Glu428Lys					PPP5C_ENST00000391919.1_Missense_Mutation_p.E300K	p.E428K	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)	11	1385	+		Ovarian(192;0.0731)|all_neural(266;0.196)	428			Catalytic.		Q16722|Q53XV2	Missense_Mutation	SNP	ENST00000012443.4	37	c.1282G>A	CCDS12684.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740454	0.69304	.	.	ENSG00000011485	ENST00000012443;ENST00000451918;ENST00000391919	T;T	0.62639	0.01;0.01	5.09	4.05	0.47172	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.84088	0.5395	H	0.95950	3.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.993	D	0.87424	0.2384	10	0.72032	D	0.01	-24.012	11.4993	0.50428	0.0887:0.0:0.9113:0.0	.	428;428	B2R6R6;P53041	.;PPP5_HUMAN	K	428;415;300	ENSP00000012443:E428K;ENSP00000375786:E300K	ENSP00000012443:E428K	E	+	1	0	PPP5C	51583755	1.000000	0.71417	0.998000	0.56505	0.180000	0.23129	9.180000	0.94867	1.141000	0.42275	-0.291000	0.09656	GAA		0.597	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2	NM_006247		48	160	0	0	0	0.014410	0	48	160				
DMRTA1	63951	broad.mit.edu	37	9	22451198	22451198	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr9:22451198C>G	ENST00000325870.2	+	2	1028	c.803C>G	c.(802-804)tCa>tGa	p.S268*		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	268					male mating behavior (GO:0060179)|ovarian follicle development (GO:0001541)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		TCATCTATTTCAGAATACTCC	0.448																																						ENST00000325870.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(802-804)tCa>tGa		DMRT-like family A1							89.0	88.0	88.0					9																	22451198		2203	4300	6503	SO:0001587	stop_gained	63951				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:22451198C>G	AJ290954	CCDS6514.1	9p21.3	2008-05-15			ENSG00000176399	ENSG00000176399			13826	protein-coding gene	gene with protein product		614803					Standard	NM_022160		Approved		uc003zpp.1	Q5VZB9	OTTHUMG00000019693	ENST00000325870.2:c.803C>G	9.37:g.22451198C>G	ENSP00000319651:p.Ser268*						p.S268*	NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)	2	1028	+		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)	268					A1L481|Q8N8Y9|Q9H4B9	Nonsense_Mutation	SNP	ENST00000325870.2	37	c.803C>G	CCDS6514.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918989	0.73098	.	.	ENSG00000176399	ENST00000325870	.	.	.	5.87	4.97	0.65823	.	1.246450	0.05105	N	0.487955	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-1.3632	14.1005	0.65051	0.0:0.8625:0.0:0.1374	.	.	.	.	X	268	.	ENSP00000319651:S268X	S	+	2	0	DMRTA1	22441198	0.035000	0.19736	0.023000	0.16930	0.028000	0.11728	0.481000	0.22260	0.953000	0.37825	-0.797000	0.03246	TCA		0.448	DMRTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051935.2			44	77	0	0	0	0.014410	0	44	77				
MAST3	23031	broad.mit.edu	37	19	18254654	18254654	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:18254654G>A	ENST00000262811.6	+	21	2334	c.2334G>A	c.(2332-2334)ctG>ctA	p.L778L	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	778							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CATCTCTCCTGAATACCATCA	0.607																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(2332-2334)ctG>ctA		microtubule associated serine/threonine kinase 3							38.0	41.0	40.0					19																	18254654		1969	4153	6122	SO:0001819	synonymous_variant	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18254654G>A	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2334G>A	19.37:g.18254654G>A							p.L778L	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			21	2334	+			778					Q7LDZ8|Q9UPI0	Silent	SNP	ENST00000262811.6	37	c.2334G>A	CCDS46014.1																																																																																				0.607	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		10	26	0	0	0	0.008291	0	10	26				
LAMB4	22798	broad.mit.edu	37	7	107752256	107752256	+	Splice_Site	SNP	C	C	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr7:107752256C>A	ENST00000388781.3	-	4	411	c.328G>T	c.(328-330)Ggt>Tgt	p.G110C	LAMB4_ENST00000205386.4_Splice_Site_p.G110C|LAMB4_ENST00000388780.3_Splice_Site_p.G110C|LAMB4_ENST00000414450.2_Splice_Site_p.G110C|LAMB4_ENST00000418464.1_Splice_Site_p.G110C	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	110	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TAAATCATACCATTTTCAGAT	0.338																																						ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.e4+1		laminin, beta 4							150.0	142.0	145.0					7																	107752256		2203	4300	6503	SO:0001630	splice_region_variant	22798				cell adhesion	basement membrane		g.chr7:107752256C>A	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.328+1G>T	7.37:g.107752256C>A						LAMB4_ENST00000388780.3_Splice_Site_p.G110_splice|LAMB4_ENST00000205386.4_Splice_Site_p.G110_splice|LAMB4_ENST00000414450.2_Splice_Site_p.G110_splice	p.G110_splice	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			4	411	-			110			Laminin N-terminal.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Splice_Site	SNP	ENST00000388781.3	37	c.328_splice	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.133624	0.56828	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36	5.35	4.46	0.54185	Laminin, N-terminal (3);	0.124054	0.36893	N	0.002350	D	0.95056	0.8399	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95702	0.8750	9	.	.	.	.	13.58	0.61896	0.0:0.9246:0.0:0.0754	.	110	A4D0S4	LAMB4_HUMAN	C	110	ENSP00000205386:G110C;ENSP00000373433:G110C;ENSP00000373432:G110C;ENSP00000402353:G110C;ENSP00000402265:G110C	.	G	-	1	0	LAMB4	107539492	1.000000	0.71417	0.495000	0.27527	0.372000	0.29890	4.435000	0.59941	1.598000	0.50083	0.655000	0.94253	GGT		0.338	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857	Missense_Mutation	40	89	1	0	6.2361e-21	0.007835	6.91866e-21	40	89				
RP1L1	94137	broad.mit.edu	37	8	10480315	10480315	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr8:10480315C>T	ENST00000382483.3	-	2	620	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	133					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CGCTGGCCTTCGACATCCCGC	0.607																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(397-399)Gaa>Aaa		retinitis pigmentosa 1-like 1							24.0	26.0	25.0					8																	10480315		1967	4143	6110	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10480315C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.397G>A	8.37:g.10480315C>T	ENSP00000371923:p.Glu133Lys					RP1L1_ENST00000329335.3_5'UTR	p.E133K	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	2	620	-			133					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.397G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	c	12.32	1.901442	0.33535	.	.	ENSG00000183638	ENST00000382483	T	0.04360	3.64	4.32	0.355	0.16069	.	.	.	.	.	T	0.02929	0.0087	L	0.27053	0.805	0.09310	N	1	D	0.54047	0.964	B	0.33960	0.173	T	0.45906	-0.9229	9	0.46703	T	0.11	-1.0218	8.4313	0.32759	0.0:0.6106:0.2408:0.1485	.	133	A6NKC6	.	K	133	ENSP00000371923:E133K	ENSP00000371923:E133K	E	-	1	0	RP1L1	10517725	0.023000	0.18921	0.000000	0.03702	0.003000	0.03518	0.902000	0.28459	-0.410000	0.07542	-1.338000	0.01255	GAA		0.607	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			36	57	0	0	0	0.015359	0	36	57				
NRG2	9542	broad.mit.edu	37	5	139422206	139422206	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr5:139422206C>A	ENST00000361474.1	-	1	673	c.449G>T	c.(448-450)cGa>cTa	p.R150L	NRG2_ENST00000289422.7_Missense_Mutation_p.R150L|NRG2_ENST00000394770.1_Missense_Mutation_p.R150L|NRG2_ENST00000289409.4_Missense_Mutation_p.R150L|NRG2_ENST00000358522.3_Missense_Mutation_p.R150L|NRG2_ENST00000545385.1_Missense_Mutation_p.R150L|NRG2_ENST00000541337.1_Missense_Mutation_p.R150L	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	150					embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGGCTCTCGGGTGCTGTT	0.697																																						ENST00000541337.1																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(448-450)cGa>cTa		neuregulin 2							6.0	9.0	8.0					5																	139422206		2101	4190	6291	SO:0001583	missense	9542				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr5:139422206C>A		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.449G>T	5.37:g.139422206C>A	ENSP00000354910:p.Arg150Leu					NRG2_ENST00000394770.1_Missense_Mutation_p.R150L|NRG2_ENST00000289409.4_Missense_Mutation_p.R150L|NRG2_ENST00000358522.3_Missense_Mutation_p.R150L|NRG2_ENST00000289422.7_Missense_Mutation_p.R150L|NRG2_ENST00000545385.1_Missense_Mutation_p.R150L|NRG2_ENST00000361474.1_Missense_Mutation_p.R150L	p.R150L	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	678	-			150						Missense_Mutation	SNP	ENST00000361474.1	37	c.449G>T	CCDS4217.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.382708	0.42207	.	.	ENSG00000158458	ENST00000541337;ENST00000289422;ENST00000361474;ENST00000446269;ENST00000545385;ENST00000394770;ENST00000289409;ENST00000358522;ENST00000544729;ENST00000378238	T;T;T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	4.14	4.14	0.48551	.	.	.	.	.	T	0.75810	0.3900	N	0.08118	0	0.39729	D	0.971586	D;D;D;D	0.69078	0.996;0.969;0.997;0.992	D;P;P;P	0.72338	0.977;0.488;0.834;0.686	T	0.81360	-0.0968	9	0.56958	D	0.05	-4.8102	14.2064	0.65737	0.0:1.0:0.0:0.0	.	150;150;150;150	O14511-2;O14511;O14511-4;O14511-3	.;NRG2_HUMAN;.;.	L	150;150;150;150;150;150;150;150;58;150	ENSP00000444235:R150L;ENSP00000289422:R150L;ENSP00000354910:R150L;ENSP00000438753:R150L;ENSP00000378251:R150L;ENSP00000289409:R150L;ENSP00000351323:R150L;ENSP00000367483:R150L	ENSP00000289409:R150L	R	-	2	0	NRG2	139402390	1.000000	0.71417	0.986000	0.45419	0.933000	0.57130	3.116000	0.50399	1.867000	0.54127	0.305000	0.20034	CGA		0.697	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		3	17	1	0	2.56e-06	0.009096	2.65526e-06	3	17				
OR10H1	26539	broad.mit.edu	37	19	15918182	15918182	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr19:15918182G>A	ENST00000334920.2	-	1	754	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						TGGCGGCCACGATGAAGGCAT	0.577																																						ENST00000334920.2																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						c.(664-666)atC>atT		olfactory receptor, family 10, subfamily H, member 1							80.0	67.0	72.0					19																	15918182		2202	4279	6481	SO:0001819	synonymous_variant	26539				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15918182G>A	AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"""GPCR / Class A : Olfactory receptors"""	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.666C>T	19.37:g.15918182G>A							p.I222I	NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN			1	754	-			222					Q6IFQ2|Q96R59	Silent	SNP	ENST00000334920.2	37	c.666C>T	CCDS12335.1																																																																																				0.577	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1			18	101	0	0	0	0.017118	0	18	101				
TNFSF11	8600	broad.mit.edu	37	13	43180976	43180976	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr13:43180976G>A	ENST00000239849.6	+	5	1027	c.876G>A	c.(874-876)gaG>gaA	p.E292E	TNFSF11_ENST00000544862.1_Silent_p.E219E|TNFSF11_ENST00000405262.2_Silent_p.E219E|TNFSF11_ENST00000398795.2_Silent_p.E219E|TNFSF11_ENST00000358545.2_Silent_p.E219E			O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	292					activation of JUN kinase activity (GO:0007257)|bone resorption (GO:0045453)|calcium ion homeostasis (GO:0055074)|cytokine-mediated signaling pathway (GO:0019221)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|monocyte chemotaxis (GO:0002548)|organ morphogenesis (GO:0009887)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of bone resorption (GO:0045780)|positive regulation of corticotropin-releasing hormone secretion (GO:0051466)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast development (GO:2001206)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	cytokine activity (GO:0005125)|tumor necrosis factor receptor binding (GO:0005164)|tumor necrosis factor receptor superfamily binding (GO:0032813)			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	Denosumab(DB06643)|Lenalidomide(DB00480)	TCAGCATCGAGGTCTCCAACC	0.423																																						ENST00000398795.2																			0				kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(655-657)gaG>gaA		tumor necrosis factor (ligand) superfamily, member 11							100.0	101.0	101.0					13																	43180976		2203	4300	6503	SO:0001819	synonymous_variant	8600				immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding	g.chr13:43180976G>A	AF013171	CCDS9384.1, CCDS9385.1	13q14	2008-02-05			ENSG00000120659	ENSG00000120659		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11926	protein-coding gene	gene with protein product		602642				9312132, 9367155	Standard	NM_003701		Approved	TRANCE, RANKL, OPGL, ODF, CD254	uc001uyu.2	O14788	OTTHUMG00000016807	ENST00000239849.6:c.876G>A	13.37:g.43180976G>A						TNFSF11_ENST00000405262.2_Silent_p.E219E|TNFSF11_ENST00000544862.1_Silent_p.E219E|TNFSF11_ENST00000239849.6_Silent_p.E292E|TNFSF11_ENST00000358545.2_Silent_p.E219E	p.E219E	NM_003701.3	NP_003692.1	O14788	TNF11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	5	1025	+		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	292					O14723|Q96Q17|Q9P2Q3	Silent	SNP	ENST00000239849.6	37	c.657G>A	CCDS9384.1																																																																																				0.423	TNFSF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044702.2			53	178	0	0	0	0.014410	0	53	178				
NRDE2	55051	broad.mit.edu	37	14	90770702	90770702	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr14:90770702G>A	ENST00000354366.3	-	5	814	c.582C>T	c.(580-582)tgC>tgT	p.C194C	NRDE2_ENST00000357904.3_5'UTR	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	194																	TAATGCCAAGGCAGGAGTCTC	0.418																																						ENST00000354366.3																			0											c.(580-582)tgC>tgT		NRDE-2, necessary for RNA interference, domain containing							66.0	62.0	63.0					14																	90770702		2203	4300	6503	SO:0001819	synonymous_variant	55051							g.chr14:90770702G>A	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.582C>T	14.37:g.90770702G>A						NRDE2_ENST00000357904.3_5'UTR	p.C194C	NM_017970.3	NP_060440.2					5	814	-								B4DH71|Q4G0A7|Q9NWH6	Silent	SNP	ENST00000354366.3	37	c.582C>T	CCDS9890.1																																																																																				0.418	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		23	136	0	0	0	0.018920	0	23	136				
UNC13C	440279	broad.mit.edu	37	15	54305667	54305667	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr15:54305667G>C	ENST00000260323.11	+	1	567	c.567G>C	c.(565-567)aaG>aaC	p.K189N	UNC13C_ENST00000537900.1_Missense_Mutation_p.K189N|UNC13C_ENST00000545554.1_Missense_Mutation_p.K189N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	189					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AATGGAAAAAGAGTCAAGAAT	0.458																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(565-567)aaG>aaC		unc-13 homolog C (C. elegans)							101.0	100.0	100.0					15																	54305667		1877	4101	5978	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54305667G>C	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.567G>C	15.37:g.54305667G>C	ENSP00000260323:p.Lys189Asn					UNC13C_ENST00000537900.1_Missense_Mutation_p.K189N|UNC13C_ENST00000260323.11_Missense_Mutation_p.K189N	p.K189N			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	567	+			189					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.567G>C	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063987	0.55432	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.85013	-1.93;-1.93;-1.93	4.98	4.06	0.47325	.	.	.	.	.	D	0.85013	0.5600	L	0.32530	0.975	0.42549	D	0.9931	D	0.69078	0.997	P	0.60789	0.879	D	0.84935	0.0862	9	0.66056	D	0.02	.	8.7682	0.34715	0.1711:0.0:0.8289:0.0	.	189	Q8NB66	UN13C_HUMAN	N	189	ENSP00000260323:K189N;ENSP00000438156:K189N;ENSP00000442569:K189N	ENSP00000260323:K189N	K	+	3	2	UNC13C	52092959	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.285000	0.43487	1.074000	0.40909	0.655000	0.94253	AAG		0.458	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		30	90	0	0	0	0.008361	0	30	90				
CARD14	79092	broad.mit.edu	37	17	78182030	78182030	+	Silent	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:78182030C>T	ENST00000573882.1	+	23	3437	c.2901C>T	c.(2899-2901)taC>taT	p.Y967Y	RP11-334C17.5_ENST00000572730.1_RNA|CARD14_ENST00000344227.2_Silent_p.Y967Y|RP11-334C17.5_ENST00000576824.1_RNA|RP11-334C17.5_ENST00000573346.1_RNA			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	967	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCTGTCTATACAGCAGCCTGG	0.672																																						ENST00000573882.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23						c.(2899-2901)taC>taT		caspase recruitment domain family, member 14							22.0	23.0	23.0					17																	78182030		2182	4278	6460	SO:0001819	synonymous_variant	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78182030C>T	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.2901C>T	17.37:g.78182030C>T						CARD14_ENST00000344227.2_Silent_p.Y967Y	p.Y967Y			Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		23	3437	+	all_neural(118;0.0952)		967			Guanylate kinase-like.		B8QQJ3|Q9BVB5	Silent	SNP	ENST00000573882.1	37	c.2901C>T	CCDS11768.1																																																																																				0.672	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			2	2	0	0	0	0.009096	0	2	2				
FAM151A	338094	broad.mit.edu	37	1	55089015	55089015	+	Silent	SNP	G	G	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:55089015G>T	ENST00000302250.2	-	1	214	c.54C>A	c.(52-54)ggC>ggA	p.G18G	RP11-240D10.4_ENST00000416119.1_RNA|ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Silent_p.G18G	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	18						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CACAGGTAATGCCGGCAAACA	0.597																																						ENST00000302250.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(52-54)ggC>ggA		family with sequence similarity 151, member A							233.0	180.0	198.0					1																	55089015		2203	4300	6503	SO:0001819	synonymous_variant	338094					integral to membrane		g.chr1:55089015G>T	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.54C>A	1.37:g.55089015G>T						RP11-240D10.4_ENST00000416119.1_RNA|FAM151A_ENST00000371304.2_Silent_p.G18G|ACOT11_ENST00000371316.3_Intron	p.G18G	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN			1	214	-			18					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Silent	SNP	ENST00000302250.2	37	c.54C>A	CCDS594.1																																																																																				0.597	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		114	98	1	0	4.64626e-59	0.014410	5.2863e-59	114	98				
MYH13	8735	broad.mit.edu	37	17	10231210	10231210	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:10231210C>G	ENST00000418404.3	-	21	2827	c.2664G>C	c.(2662-2664)aaG>aaC	p.K888N	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.K888N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	888					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						GGAGGTCATTCTTCTCCTGCA	0.527											OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000418404.3																			0				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						c.(2662-2664)aaG>aaC		myosin, heavy chain 13, skeletal muscle							74.0	77.0	76.0					17																	10231210		2181	4295	6476	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10231210C>G	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.2664G>C	17.37:g.10231210C>G	ENSP00000404570:p.Lys888Asn		OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	663	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000570743.1_Missense_Mutation_p.K888N|MYH13_ENST00000252172.4_Missense_Mutation_p.K888N	p.K888N			Q9UKX3	MYH13_HUMAN			21	2827	-			888					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.2664G>C	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382505	0.61845	.	.	ENSG00000006788	ENST00000252172	D	0.94417	-3.42	4.1	-0.321	0.12717	.	.	.	.	.	D	0.97801	0.9278	H	0.98738	4.315	0.32968	D	0.521995	D	0.76494	0.999	D	0.74674	0.984	D	0.94664	0.7851	9	0.87932	D	0	.	5.1306	0.14907	0.135:0.5218:0.0:0.3432	.	888	Q9UKX3	MYH13_HUMAN	N	888	ENSP00000252172:K888N	ENSP00000252172:K888N	K	-	3	2	MYH13	10171935	0.073000	0.21202	0.951000	0.38953	0.934000	0.57294	-0.519000	0.06260	-0.096000	0.12329	0.563000	0.77884	AAG		0.527	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		21	75	0	0	0	0.014323	0	21	75				
FBXO6	26270	broad.mit.edu	37	1	11728956	11728956	+	Silent	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:11728956C>T	ENST00000376753.4	+	2	376	c.241C>T	c.(241-243)Cta>Tta	p.L81L		NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6	81	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|proteolysis (GO:0006508)|response to unfolded protein (GO:0006986)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCTACTTCCTACGGAGCCT	0.602																																					NSCLC(54;506 1562 46490 51389)	ENST00000376753.4																			0				breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6						c.(241-243)Cta>Tta		F-box protein 6							53.0	59.0	57.0					1																	11728956		2203	4300	6503	SO:0001819	synonymous_variant	26270				DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	glycoprotein binding	g.chr1:11728956C>T	AF129536	CCDS133.1	1p36.22	2008-05-14	2004-06-15		ENSG00000116663	ENSG00000116663		"""F-boxes /  ""other"""""	13585	protein-coding gene	gene with protein product		605647	"""F-box only protein 6"""			10531035, 10945468	Standard	NM_018438		Approved	FBX6, FBG2, FBS2, Fbx6b	uc001aso.3	Q9NRD1	OTTHUMG00000002229	ENST00000376753.4:c.241C>T	1.37:g.11728956C>T							p.L81L	NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	2	376	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	81			FBA.		B1AK42|B2RC88|Q9UKT3	Silent	SNP	ENST00000376753.4	37	c.241C>T	CCDS133.1																																																																																				0.602	FBXO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006332.1	NM_018438		6	91	0	0	0	0.008291	0	6	91				
PMVK	10654	broad.mit.edu	37	1	154898894	154898894	+	Silent	SNP	C	C	T	rs137902262	byFrequency	TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:154898894C>T	ENST00000368467.3	-	4	683	c.378G>A	c.(376-378)acG>acA	p.T126T		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	126					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|response to cholesterol (GO:0070723)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|phosphomevalonate kinase activity (GO:0004631)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGACCGTCTGCGTCACGGCCC	0.617													C|||	9	0.00179712	0.0068	0.0	5008	,	,		21615	0.0		0.0	False		,,,				2504	0.0					ENST00000368467.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(376-378)acG>acA		phosphomevalonate kinase		C		25,4381	30.8+/-60.4	0,25,2178	78.0	60.0	66.0		378	-9.2	0.0	1	dbSNP_134	66	0,8600		0,0,4300	yes	coding-synonymous	PMVK	NM_006556.3		0,25,6478	TT,TC,CC		0.0,0.5674,0.1922		126/193	154898894	25,12981	2203	4300	6503	SO:0001819	synonymous_variant	10654				cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding	g.chr1:154898894C>T	L77213	CCDS1073.1	1q21.3	2012-09-20			ENSG00000163344	ENSG00000163344	2.7.4.2		9141	protein-coding gene	gene with protein product		607622				8663599, 10191291	Standard	NM_006556		Approved	PMK, PMKA, HUMPMKI	uc001ffq.3	Q15126	OTTHUMG00000037415	ENST00000368467.3:c.378G>A	1.37:g.154898894C>T							p.T126T	NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	683	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		126					Q5TZW9	Silent	SNP	ENST00000368467.3	37	c.378G>A	CCDS1073.1																																																																																				0.617	PMVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091088.1	NM_006556		19	48	0	0	0	0.007413	0	19	48				
TRIM35	23087	broad.mit.edu	37	8	27145246	27145246	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr8:27145246C>T	ENST00000305364.4	-	6	1386	c.1303G>A	c.(1303-1305)Gag>Aag	p.E435K	TRIM35_ENST00000521253.1_3'UTR	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	435	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		TCGCCCTCCTCACACTCCAGC	0.682																																						ENST00000305364.4																			0				breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14						c.(1303-1305)Gag>Aag		tripartite motif containing 35							46.0	43.0	44.0					8																	27145246		2203	4298	6501	SO:0001583	missense	23087				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding	g.chr8:27145246C>T	AB029021	CCDS6056.2	8p21.2	2013-01-09	2011-01-25		ENSG00000104228	ENSG00000104228		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16285	protein-coding gene	gene with protein product			"""tripartite motif-containing 35"""			11331580, 14662771, 12692137	Standard	XM_005273451		Approved	KIAA1098, MAIR, HLS5	uc003xfl.1	Q9UPQ4	OTTHUMG00000102047	ENST00000305364.4:c.1303G>A	8.37:g.27145246C>T	ENSP00000301924:p.Glu435Lys					TRIM35_ENST00000521253.1_3'UTR	p.E435K	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)	6	1386	-		Ovarian(32;2.61e-05)	435			B30.2/SPRY.		Q86XQ0|Q8WVA4	Missense_Mutation	SNP	ENST00000305364.4	37	c.1303G>A	CCDS6056.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236630	0.79800	.	.	ENSG00000104228	ENST00000305364;ENST00000380544	T	0.65732	-0.17	5.34	5.34	0.76211	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.080432	0.53938	D	0.000057	T	0.73705	0.3621	M	0.76727	2.345	0.80722	D	1	P	0.47034	0.889	P	0.53861	0.736	T	0.77327	-0.2629	10	0.87932	D	0	.	14.5405	0.67990	0.0:1.0:0.0:0.0	.	435	Q9UPQ4	TRI35_HUMAN	K	435	ENSP00000301924:E435K	ENSP00000301924:E435K	E	-	1	0	TRIM35	27201163	0.905000	0.30787	0.950000	0.38849	0.677000	0.39632	1.745000	0.38278	2.498000	0.84270	0.462000	0.41574	GAG		0.682	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219848.2	NM_171982		5	10	0	0	0	0.021553	0	5	10				
KRTCAP3	200634	broad.mit.edu	37	2	27665758	27665758	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:27665758G>T	ENST00000543753.1	+	3	310	c.263G>T	c.(262-264)cGc>cTc	p.R88L	KRTCAP3_ENST00000407293.1_Missense_Mutation_p.R70L|KRTCAP3_ENST00000288873.3_Missense_Mutation_p.R88L	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	88						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					AACCTTCTTCGCCCTCCACTG	0.587																																						ENST00000543753.1																			0				large_intestine(1)|lung(2)	3						c.(262-264)cGc>cTc		keratinocyte associated protein 3							40.0	45.0	43.0					2																	27665758		2203	4300	6503	SO:0001583	missense	200634					integral to membrane		g.chr2:27665758G>T	AY157576	CCDS1754.1	2p23.3	2008-02-05			ENSG00000157992	ENSG00000157992			28943	protein-coding gene	gene with protein product							Standard	NM_173853		Approved	KCP3	uc002rks.3	Q53RY4	OTTHUMG00000097782	ENST00000543753.1:c.263G>T	2.37:g.27665758G>T	ENSP00000442400:p.Arg88Leu					KRTCAP3_ENST00000407293.1_Missense_Mutation_p.R70L|KRTCAP3_ENST00000288873.3_Missense_Mutation_p.R88L	p.R88L	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN			3	310	+	Acute lymphoblastic leukemia(172;0.155)		88					B7ZL49|Q6UW42|Q8IWS5	Missense_Mutation	SNP	ENST00000543753.1	37	c.263G>T	CCDS1754.1	.	.	.	.	.	.	.	.	.	.	G	5.438	0.265902	0.10294	.	.	ENSG00000157992	ENST00000543753;ENST00000288873;ENST00000407293	T;T;T	0.43688	0.94;0.94;0.94	5.06	-0.558	0.11796	.	0.844883	0.10708	N	0.643142	T	0.18002	0.0432	N	0.05078	-0.115	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.18840	-1.0324	10	0.31617	T	0.26	-12.9724	4.5984	0.12341	0.2342:0.0:0.3824:0.3834	.	88	Q53RY4	KCP3_HUMAN	L	88;88;70	ENSP00000442400:R88L;ENSP00000288873:R88L;ENSP00000384689:R70L	ENSP00000288873:R88L	R	+	2	0	KRTCAP3	27519262	0.000000	0.05858	0.019000	0.16419	0.988000	0.76386	-0.625000	0.05534	0.024000	0.15214	0.561000	0.74099	CGC		0.587	KRTCAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215025.1	NM_173853		27	54	1	0	7.68411e-24	0.008361	8.56779e-24	27	54				
EFNA3	1944	broad.mit.edu	37	1	155057801	155057801	+	Silent	SNP	G	G	A			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:155057801G>A	ENST00000368408.3	+	2	433	c.363G>A	c.(361-363)aaG>aaA	p.K121K	EFNA3_ENST00000418360.2_Silent_p.K121K|EFNA3_ENST00000505139.1_Silent_p.K116K|EFNA3_ENST00000556931.1_Silent_p.K116K	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	121	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCCCCATCAAGTTCTCGGAGA	0.647																																						ENST00000368408.3																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5						c.(361-363)aaG>aaA		ephrin-A3							23.0	26.0	25.0					1																	155057801		2203	4300	6503	SO:0001819	synonymous_variant	1944				cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr1:155057801G>A	BC017722	CCDS1090.1	1q21-q22	2011-03-09			ENSG00000143590	ENSG00000143590		"""Ephrins"""	3223	protein-coding gene	gene with protein product		601381		EPLG3		8660976	Standard	NM_004952		Approved	LERK3, Ehk1-L	uc001fhf.3	P52797	OTTHUMG00000035313	ENST00000368408.3:c.363G>A	1.37:g.155057801G>A						EFNA3_ENST00000556931.1_Silent_p.K116K|EFNA3_ENST00000505139.1_Silent_p.K116K|EFNA3_ENST00000418360.2_Silent_p.K121K	p.K121K	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	433	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		121					B7ZAD3|D3DV85|Q0VGC9|Q5SR70	Silent	SNP	ENST00000368408.3	37	c.363G>A	CCDS1090.1																																																																																				0.647	EFNA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085429.1	NM_004952		5	21	0	0	0	0.014758	0	5	21				
TUBB1	81027	broad.mit.edu	37	20	57599074	57599074	+	Missense_Mutation	SNP	G	G	T	rs147034202	byFrequency	TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr20:57599074G>T	ENST00000217133.1	+	4	861	c.592G>T	c.(592-594)Gcc>Tcc	p.A198S		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	198					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GAATGCAGATGCCTGTTTCTG	0.527																																						ENST00000217133.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16						c.(592-594)Gcc>Tcc		tubulin, beta 1 class VI	Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)						138.0	126.0	130.0					20																	57599074		2203	4300	6503	SO:0001583	missense	81027				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	g.chr20:57599074G>T	AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.592G>T	20.37:g.57599074G>T	ENSP00000217133:p.Ala198Ser						p.A198S	NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	Colorectal(105;0.109)		4	861	+	all_lung(29;0.00711)		198						Missense_Mutation	SNP	ENST00000217133.1	37	c.592G>T	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436779	0.62955	.	.	ENSG00000101162	ENST00000217133	T	0.72167	-0.63	5.39	5.39	0.77823	Tubulin/FtsZ, GTPase domain (4);	0.093562	0.64402	D	0.000001	T	0.67353	0.2884	L	0.42581	1.335	0.46416	D	0.999036	B	0.30563	0.285	B	0.31946	0.138	T	0.68953	-0.5273	10	0.87932	D	0	.	18.1143	0.89546	0.0:0.0:1.0:0.0	.	198	Q9H4B7	TBB1_HUMAN	S	198	ENSP00000217133:A198S	ENSP00000217133:A198S	A	+	1	0	TUBB1	57032469	1.000000	0.71417	0.995000	0.50966	0.737000	0.42083	9.869000	0.99810	2.537000	0.85549	0.655000	0.94253	GCC		0.527	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		5	220	1	0	0.014758	0.014758	0.0149592	5	220				
RP11-423O2.5	0	broad.mit.edu	37	1	142803302	142803303	+	lincRNA	INS	-	-	AAC	rs79529551	byFrequency	TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr1:142803302_142803303insAAC	ENST00000423385.1	-	0	1662_1663																											acaacaacaacaaACAGGATGT	0.386																																						ENST00000423385.1																			0																																																			0							g.chr1:142803302_142803303insAAC																													1.37:g.142803300_142803302dupAAC														0	1662_1663	-									RNA	INS	ENST00000423385.1	37																																																																																						0.386	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			3	6						3	6	---	---	---	---
LOC101927533	101927533	broad.mit.edu	37	2	65738847	65738847	+	lincRNA	DEL	T	T	-	rs201837109|rs35572946		TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:65738847delT	ENST00000377977.3	+	0	862																											ttttTTGAAATTTTTTTTTTT	0.294																																						ENST00000377977.3																			0																																																			101927533							g.chr2:65738847delT																													2.37:g.65738847delT														0	862	+									RNA	DEL	ENST00000377977.3	37																																																																																						0.294	AC074391.1-010	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470883.1			3	2						3	2	---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220300061	220300061	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr2:220300061delC	ENST00000312358.7	+	1	494	c.362delC	c.(361-363)gcgfs	p.A121fs		NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	121	Ig-like 1.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCCTGCGAGGCGGTGCTCACA	0.741																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(361-363)ggfs		SPEG complex locus							3.0	3.0	3.0					2																	220300061		1333	2891	4224	SO:0001589	frameshift_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220300061delC	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.362delC	2.37:g.220300061delC	ENSP00000311684:p.Ala121fs						p.A121fs	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	1	494	+		Renal(207;0.0183)	121			Ig-like 1.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Frame_Shift_Del	DEL	ENST00000312358.7	37	c.362delC	CCDS42824.1																																																																																				0.741	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		2	4						2	4	---	---	---	---
PFKFB4	5210	broad.mit.edu	37	3	48575989	48575993	+	Frame_Shift_Del	DEL	TGAAG	TGAAG	-			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr3:48575989_48575993delTGAAG	ENST00000232375.3	-	7	682_686	c.570_574delCTTCA	c.(568-576)gacttcatgfs	p.FM191fs	PFKFB4_ENST00000536104.1_Frame_Shift_Del_p.FM180fs|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000416568.1_Frame_Shift_Del_p.FM191fs|PFKFB4_ENST00000383734.2_Frame_Shift_Del_p.FM191fs|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000541519.1_Frame_Shift_Del_p.FM157fs	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	191	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ATGCGCCTCATGAAGTCCTCCGTAG	0.576																																						ENST00000232375.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(568-576)gatgfs		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4																																				SO:0001589	frameshift_variant	5210				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr3:48575989_48575993delTGAAG	BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.570_574delCTTCA	3.37:g.48575989_48575993delTGAAG	ENSP00000232375:p.Phe191fs					PFKFB4_ENST00000383734.2_Frame_Shift_Del_p.DFM190fs|PFKFB4_ENST00000536104.1_Frame_Shift_Del_p.DFM179fs|PFKFB4_ENST00000541519.1_Frame_Shift_Del_p.DFM156fs|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000416568.1_Frame_Shift_Del_p.DFM190fs|PFKFB4_ENST00000490115.1_5'UTR	p.DFM190fs	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	7	682_686	-			190			6-phosphofructo-2-kinase.		Q5S3G5|Q5XLC2|Q64EX5	Frame_Shift_Del	DEL	ENST00000232375.3	37	c.570_574delCTTCA	CCDS2771.1																																																																																				0.576	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257503.2	NM_004567		23	85						23	85	---	---	---	---
ARAP2	116984	broad.mit.edu	37	4	36148978	36148979	+	Frame_Shift_Ins	INS	-	-	T	rs148742461		TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr4:36148978_36148979insT	ENST00000303965.4	-	19	3691_3692	c.3202_3203insA	c.(3202-3204)atcfs	p.I1068fs		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1068	PH 4. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CATTGTGCTGATTGCTGAAGGG	0.332																																						ENST00000303965.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.(3202-3204)cagfs		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2																																				SO:0001589	frameshift_variant	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36148978_36148979insT	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.3203dupA	4.37:g.36148980_36148980dupT	ENSP00000302895:p.Ile1068fs						p.Q1068fs	NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN			19	3691_3692	-			1068			PH 4.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Frame_Shift_Ins	INS	ENST00000303965.4	37	c.3202_3203insA	CCDS3441.1																																																																																				0.332	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		46	194						46	194	---	---	---	---
MLLT4	4301	broad.mit.edu	37	6	168317900	168317900	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr6:168317900delT	ENST00000447894.2	+	19	2676	c.2676delT	c.(2674-2676)cctfs	p.P892fs	MLLT4_ENST00000344191.4_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000392112.1_Frame_Shift_Del_p.P876fs|MLLT4_ENST00000392108.3_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000366806.2_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000400822.3_Frame_Shift_Del_p.P891fs|MLLT4_ENST00000351017.4_Frame_Shift_Del_p.P899fs			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	892	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTGATGAGCCTTTTATCCCAA	0.398			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2674-2676)ccfs		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							177.0	166.0	170.0					6																	168317900		2203	4300	6503	SO:0001589	frameshift_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168317900delT	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.2676delT	6.37:g.168317900delT	ENSP00000404595:p.Pro892fs					MLLT4_ENST00000400822.3_Frame_Shift_Del_p.P891fs|MLLT4_ENST00000392108.3_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000344191.4_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000392112.1_Frame_Shift_Del_p.P876fs|MLLT4_ENST00000351017.4_Frame_Shift_Del_p.P899fs|MLLT4_ENST00000447894.2_Frame_Shift_Del_p.P892fs	p.P892fs			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	19	2818	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	892			Dilute.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Frame_Shift_Del	DEL	ENST00000447894.2	37	c.2676delT																																																																																					0.398	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		7	309						7	309	---	---	---	---
OPLAH	26873	broad.mit.edu	37	8	145114665	145114666	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr8:145114665_145114666insG	ENST00000426825.1	-	3	280_281	c.199_200insC	c.(199-201)cagfs	p.Q67fs	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	67					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCCAGCGGCTGGTCCCGGGGC	0.708																																						ENST00000426825.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(199-201)gccfs		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145114665_145114666insG	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.200dupC	8.37:g.145114667_145114667dupG	ENSP00000475943:p.Gln67fs					OPLAH_ENST00000534424.1_5'UTR	p.A67fs	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		3	280_281	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		67					A5PKY8|Q75W65|Q9Y4Q0	Frame_Shift_Ins	INS	ENST00000426825.1	37	c.199_200insC																																																																																					0.708	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		8	37						8	37	---	---	---	---
PPAPDC2	403313	broad.mit.edu	37	9	4662602	4662603	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr9:4662602_4662603insG	ENST00000381883.2	+	1	305_306	c.227_228insG	c.(226-231)gcgggcfs	p.AG76fs	SPATA6L_ENST00000454239.2_Intron|SPATA6L_ENST00000223517.5_Intron|SPATA6L_ENST00000475086.1_Intron|SPATA6L_ENST00000381895.5_Intron|SPATA6L_ENST00000381890.5_Intron	NM_203453.3	NP_982278.3	Q8IY26	PPAC2_HUMAN	phosphatidic acid phosphatase type 2 domain containing 2	76						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(2)|lung(1)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		CTGGCCGCGGCGGGCCCCTCGC	0.752											OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(187;1057 3809 8526)	ENST00000381883.2																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(226-228)gggfs		phosphatidic acid phosphatase type 2 domain containing 2																																				SO:0001589	frameshift_variant	403313					integral to membrane	hydrolase activity	g.chr9:4662602_4662603insG	AK128369	CCDS34981.1	9p24	2010-04-23			ENSG00000205808	ENSG00000205808			23682	protein-coding gene	gene with protein product	"""polyisoprenoid diphosphate phosphatase type 1"""	611666				16464866	Standard	NM_203453		Approved	FLJ90191, FLJ46512, PDP1	uc003zin.4	Q8IY26	OTTHUMG00000019466	ENST00000381883.2:c.230dupG	9.37:g.4662605_4662605dupG	ENSP00000371307:p.Ala76fs		OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	620	SPATA6L_ENST00000223517.5_Intron|SPATA6L_ENST00000454239.2_Intron|SPATA6L_ENST00000475086.1_Intron|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000381895.5_Intron	p.G76fs	NM_203453.3	NP_982278.3	Q8IY26	PPAC2_HUMAN		GBM - Glioblastoma multiforme(50;0.026)	1	305_306	+	all_hematologic(13;0.137)	Breast(48;0.238)	76					B3KY05|Q5JVJ6|Q8NCK9	Frame_Shift_Ins	INS	ENST00000381883.2	37	c.227_228insG	CCDS34981.1																																																																																				0.752	PPAPDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051567.1	NM_203453		9	57						9	57	---	---	---	---
SPSB2	84727	broad.mit.edu	37	12	6980443	6980444	+	Frame_Shift_Del	DEL	CA	CA	-	rs375936158		TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr12:6980443_6980444delCA	ENST00000524270.1	-	3	890_891	c.704_705delTG	c.(703-705)gtgfs	p.V235fs	SPSB2_ENST00000523102.1_Frame_Shift_Del_p.V235fs|LRRC23_ENST00000433346.1_5'Flank|RPL13P5_ENST00000412023.1_RNA	NM_032641.3	NP_116030.1	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	235	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						GGTTGTGGCGCACACACAGGCG	0.624																																						ENST00000524270.1																			0				kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(703-705)gfs		splA/ryanodine receptor domain and SOCS box containing 2																																				SO:0001589	frameshift_variant	84727				intracellular signal transduction	cytoplasm	protein binding	g.chr12:6980443_6980444delCA	AF403027	CCDS8567.1	12p13.31	2008-02-05				ENSG00000111671			29522	protein-coding gene	gene with protein product		611658				8723724, 12076535	Standard	NM_001146316		Approved	GRCC9, SSB-2	uc001qrl.3	Q99619		ENST00000524270.1:c.704_705delTG	12.37:g.6980449_6980450delCA	ENSP00000428338:p.Val235fs					SPSB2_ENST00000523102.1_Frame_Shift_Del_p.V235fs	p.V235fs	NM_032641.3	NP_116030.1	Q99619	SPSB2_HUMAN			3	890_891	-			235			SOCS box.		B7Z4W1|D3DUT0	Frame_Shift_Del	DEL	ENST00000524270.1	37	c.704_705delTG	CCDS8567.1																																																																																				0.624	SPSB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375721.1	NM_032641		11	52						11	52	---	---	---	---
EXOSC8	11340	broad.mit.edu	37	13	37578686	37578686	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr13:37578686delA	ENST00000389704.3	+	5	491	c.226delA	c.(226-228)aaafs	p.K76fs	EXOSC8_ENST00000489088.1_3'UTR	NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8	76					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		TGCCCCTGATAAAGGATACGT	0.289																																						ENST00000389704.3																			0				biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7						c.(226-228)aafs		exosome component 8							69.0	70.0	70.0					13																	37578686		2203	4300	6503	SO:0001589	frameshift_variant	11340				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding	g.chr13:37578686delA	AF025438	CCDS31958.1	13q13.1	2010-05-07			ENSG00000120699	ENSG00000120699	3.1.13.-		17035	protein-coding gene	gene with protein product	"""CBP-interacting protein 3"", ""Opa interacting protein 2"""	606019				9466265, 11929972	Standard	NM_181503		Approved	OIP2, RRP43, bA421P11.3, Rrp43p, EAP2, p9, CIP3	uc001uwa.3	Q96B26	OTTHUMG00000016742	ENST00000389704.3:c.226delA	13.37:g.37578686delA	ENSP00000374354:p.Lys76fs					EXOSC8_ENST00000489088.1_3'UTR	p.K76fs	NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)	5	491	+		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	76					O43480|Q5TBA5	Frame_Shift_Del	DEL	ENST00000389704.3	37	c.226delA	CCDS31958.1																																																																																				0.289	EXOSC8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044535.2	NM_181503		9	144						9	144	---	---	---	---
ADCY7	113	broad.mit.edu	37	16	50340985	50340986	+	Frame_Shift_Ins	INS	-	-	C	rs74793314		TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr16:50340985_50340986insC	ENST00000394697.2	+	15	2117_2118	c.1777_1778insC	c.(1777-1779)gccfs	p.A593fs	ADCY7_ENST00000538642.1_Frame_Shift_Ins_p.A593fs|ADCY7_ENST00000254235.3_Frame_Shift_Ins_p.A593fs|ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000566433.2_Frame_Shift_Ins_p.A593fs			P51828	ADCY7_HUMAN	adenylate cyclase 7	593					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		CATCCCCCGGGCCCGCCACGAC	0.658																																						ENST00000394697.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35						c.(1777-1779)ccgfs		adenylate cyclase 7	Bromocriptine(DB01200)																																			SO:0001589	frameshift_variant	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50340985_50340986insC	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1780dupC	16.37:g.50340988_50340988dupC	ENSP00000378187:p.Ala593fs					ADCY7_ENST00000566433.2_Frame_Shift_Ins_p.P593fs|ADCY7_ENST00000538642.1_Frame_Shift_Ins_p.P593fs|ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000254235.3_Frame_Shift_Ins_p.P593fs	p.P593fs			P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	15	2117_2118	+		all_cancers(37;0.0127)	593					A0AVA6	Frame_Shift_Ins	INS	ENST00000394697.2	37	c.1777_1778insC	CCDS10741.1																																																																																				0.658	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			8	40						8	40	---	---	---	---
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929|rs543483191|rs79048996|rs1985673|rs2320229|rs483893|rs572749|rs543006020|rs71155126|rs554407371|rs2320230	byFrequency	TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgcccactctgctgtcagaccacctgccaccccagctgtggtatgtccagctgctgccgt>cgt	p.85_104RPLCCQTTCHPSCGMSSCCR>R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646																																						ENST00000398472.1																			4	Deletion - In frame(4)	p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)	upper_aerodigestive_tract(2)|prostate(2)	kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(253-312)cgt>cg		keratin associated protein 4-1																																				SO:0001651	inframe_deletion	85285					keratin filament		g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	17.37:g.39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENSP00000381489:p.Arg85_Cys103del						p.RPLCCQTTCHPSCGMSSCCR85del			Q9BYQ7	KRA41_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	742_798	-		Breast(137;0.000496)	85		Missing (in allele KAP4.10).	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		A8MWS7|Q3SYF2	In_Frame_Del	DEL	ENST00000398472.1	37	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG																																																																																					0.646	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060		32	48						32	48	---	---	---	---
CNKSR2	22866	broad.mit.edu	37	X	21627677	21627678	+	In_Frame_Ins	INS	-	-	GAG			TCGA-CN-4734-01A-01D-1434-08	TCGA-CN-4734-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd54bbfa-62a2-4d8b-88fb-b74b91e1b958	0a364971-3490-42ca-bd60-a031d081612d	g.chrX:21627677_21627678insGAG	ENST00000379510.3	+	20	2670_2671	c.2634_2635insGAG	c.(2635-2637)gag>GAGgag	p.879_879E>EE	CNKSR2_ENST00000425654.2_In_Frame_Ins_p.849_849E>EE|CNKSR2_ENST00000543067.1_In_Frame_Ins_p.830_830E>EE|CNKSR2_ENST00000279451.4_In_Frame_Ins_p.879_879E>EE	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	879	Poly-Glu.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						aggtggaggaagaggaggagga	0.515																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2542-2547)gaagga>gaGAGagga		connector enhancer of kinase suppressor of Ras 2																																				SO:0001652	inframe_insertion	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627677_21627678insGAG	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2653_2655dupGAG	X.37:g.21627684_21627686dupGAG	ENSP00000368824:p.Glu886dup					CNKSR2_ENST00000379510.3_In_Frame_Ins_p.878_879EG>ERG|CNKSR2_ENST00000543067.1_In_Frame_Ins_p.829_830EG>ERG|CNKSR2_ENST00000279451.4_In_Frame_Ins_p.878_879EG>ERG	p.848_849EG>ERG	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			19	3024_3025	+			878					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	In_Frame_Ins	INS	ENST00000379510.3	37	c.2544_2545insGAG	CCDS14198.1																																																																																				0.515	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		12	28						12	28	---	---	---	---
