#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
PDXDC1	23042	broad.mit.edu	37	16	15110003	15110003	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr16:15110003C>A	ENST00000396410.4	+	9	842	c.745C>A	c.(745-747)Cac>Aac	p.H249N	PDXDC1_ENST00000535621.2_Missense_Mutation_p.H249N|PDXDC1_ENST00000563679.1_Missense_Mutation_p.H267N|PDXDC1_ENST00000325823.7_Missense_Mutation_p.H234N|PDXDC1_ENST00000447912.2_Missense_Mutation_p.H158N|PDXDC1_ENST00000569715.1_Missense_Mutation_p.H222N|PDXDC1_ENST00000455313.2_Missense_Mutation_p.H226N|PDXDC1_ENST00000450288.2_Missense_Mutation_p.H221N|RP11-680G24.5_ENST00000565178.1_RNA	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	249					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGCAGTAGGACACACAGACAA	0.448																																						ENST00000396410.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(745-747)Cac>Aac		pyridoxal-dependent decarboxylase domain containing 1	Pyridoxal Phosphate(DB00114)						99.0	100.0	99.0					16																	15110003		2196	4300	6496	SO:0001583	missense	23042				carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	g.chr16:15110003C>A	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.745C>A	16.37:g.15110003C>A	ENSP00000379691:p.His249Asn					PDXDC1_ENST00000447912.2_Missense_Mutation_p.H158N|PDXDC1_ENST00000450288.2_Missense_Mutation_p.H221N|PDXDC1_ENST00000569715.1_Missense_Mutation_p.H222N|PDXDC1_ENST00000325823.7_Missense_Mutation_p.H234N|PDXDC1_ENST00000563679.1_Missense_Mutation_p.H267N|PDXDC1_ENST00000535621.2_Missense_Mutation_p.H249N|PDXDC1_ENST00000455313.2_Missense_Mutation_p.H226N	p.H249N	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN			9	842	+			249					B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	ENST00000396410.4	37	c.745C>A	CCDS32393.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513039	0.85389	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000535621;ENST00000396410;ENST00000450288;ENST00000455313	T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2	5.21	5.21	0.72293	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.55369	0.1916	L	0.55834	1.745	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.998	D;D;D;D;D;D	0.81914	0.995;0.995;0.995;0.995;0.995;0.963	T	0.48422	-0.9037	10	0.30854	T	0.27	-17.2986	17.7397	0.88404	0.0:1.0:0.0:0.0	.	221;158;249;221;249;226	E7EPL4;E7EMH5;Q86XE2;B4DR55;Q6P996;Q6P996-2	.;.;.;.;PDXD1_HUMAN;.	N	234;158;249;249;221;226	ENSP00000322807:H234N;ENSP00000400310:H158N;ENSP00000437835:H249N;ENSP00000379691:H249N;ENSP00000391147:H221N;ENSP00000406703:H226N	ENSP00000322807:H234N	H	+	1	0	PDXDC1	15017504	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.907000	0.75724	2.441000	0.82636	0.542000	0.68232	CAC		0.448	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027		3	80	1	0	0.150653	1	0.165937	3	80				
TRIP12	9320	broad.mit.edu	37	2	230672968	230672968	+	Splice_Site	SNP	C	C	A			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr2:230672968C>A	ENST00000283943.5	-	15	2373	c.2195G>T	c.(2194-2196)tGt>tTt	p.C732F	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Splice_Site_p.C780F|TRIP12_ENST00000389045.3_Splice_Site_p.C435F	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	732					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CAATCTTTACCAAATCAGAGA	0.488																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.e15+1		thyroid hormone receptor interactor 12							67.0	65.0	66.0					2																	230672968		2203	4300	6503	SO:0001630	splice_region_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230672968C>A	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.2195+1G>T	2.37:g.230672968C>A						TRIP12_ENST00000389044.4_Splice_Site_p.C780_splice|TRIP12_ENST00000389045.3_Splice_Site_p.C435_splice|TRIP12_ENST00000543084.1_Intron	p.C732_splice	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	15	2373	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	732					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Splice_Site	SNP	ENST00000283943.5	37	c.2195_splice	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788327	0.90367	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.34472	1.36;1.36;1.36	5.43	5.43	0.79202	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55194	0.1905	L	0.47716	1.5	0.80722	D	1	D;D;D;D	0.65815	0.995;0.98;0.98;0.98	D;D;D;D	0.75484	0.986;0.962;0.962;0.962	T	0.46062	-0.9218	9	.	.	.	.	19.6167	0.95636	0.0:1.0:0.0:0.0	.	738;435;780;732	D4HL82;Q14CF1;Q14CA3;Q14669	.;.;.;TRIPC_HUMAN	F	732;435;780	ENSP00000283943:C732F;ENSP00000373697:C435F;ENSP00000373696:C780F	.	C	-	2	0	TRIP12	230381212	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.734000	0.84928	2.708000	0.92522	0.467000	0.42956	TGT		0.488	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238	Missense_Mutation	4	79	1	0	0.00909568	1	0.0106349	4	79				
MCF2L	23263	broad.mit.edu	37	13	113699625	113699625	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr13:113699625C>T	ENST00000375608.3	+	5	467	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W	MCF2L_ENST00000375597.4_Missense_Mutation_p.R105W|MCF2L_ENST00000375601.3_Missense_Mutation_p.R111W|MCF2L_ENST00000397030.1_Missense_Mutation_p.R140W|MCF2L_ENST00000434480.2_Missense_Mutation_p.R113W|MCF2L_ENST00000423482.2_Missense_Mutation_p.R105W|MCF2L_ENST00000480321.1_3'UTR|MCF2L_ENST00000375604.2_Missense_Mutation_p.R164W|MCF2L_ENST00000397021.1_Missense_Mutation_p.R69W|MCF2L_ENST00000535094.2_Missense_Mutation_p.R107W|MCF2L_ENST00000442652.2_Missense_Mutation_p.R137W|MCF2L_ENST00000421756.1_Missense_Mutation_p.R111W			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	137	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GGTGATAGACCGGCGACGGGA	0.667																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(418-420)Cgg>Tgg		MCF.2 cell line derived transforming sequence-like							77.0	72.0	73.0					13																	113699625		2203	4300	6503	SO:0001583	missense	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113699625C>T	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.409C>T	13.37:g.113699625C>T	ENSP00000364758:p.Arg137Trp					MCF2L_ENST00000423482.2_Missense_Mutation_p.R105W|MCF2L_ENST00000480321.1_3'UTR|MCF2L_ENST00000397021.1_Missense_Mutation_p.R69W|MCF2L_ENST00000375601.3_Missense_Mutation_p.R111W|MCF2L_ENST00000535094.2_Missense_Mutation_p.R107W|MCF2L_ENST00000375604.2_Missense_Mutation_p.R164W|MCF2L_ENST00000421756.1_Missense_Mutation_p.R111W|MCF2L_ENST00000442652.2_Missense_Mutation_p.R137W|MCF2L_ENST00000375608.3_Missense_Mutation_p.R137W|MCF2L_ENST00000375597.4_Missense_Mutation_p.R105W|MCF2L_ENST00000434480.2_Missense_Mutation_p.R113W	p.R140W			O15068	MCF2L_HUMAN			4	455	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	137			CRAL-TRIO.		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.418C>T		.	.	.	.	.	.	.	.	.	.	C	20.9	4.071249	0.76301	.	.	ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000430480;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000409954;ENST00000423482;ENST00000375597;ENST00000397021;ENST00000423251	D;D;D;D;D;D;D;D;T;D;D;T	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-0.07;-1.82;-1.82;-0.07	4.29	2.47	0.30058	Cellular retinaldehyde-binding/triple function, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91476	0.7309	M	0.85777	2.775	0.39417	D	0.966854	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.997;0.997;0.997;1.0;1.0;0.998	D	0.90985	0.4830	10	0.87932	D	0	.	9.2721	0.37677	0.3916:0.6084:0.0:0.0	.	105;107;164;69;105;137	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068	.;.;.;.;.;MCF2L_HUMAN	W	137;137;164;140;107;107;111;111;113;78;105;105;69;27	ENSP00000364758:R137W;ENSP00000401422:R137W;ENSP00000364754:R164W;ENSP00000380225:R140W;ENSP00000440374:R107W;ENSP00000397285:R111W;ENSP00000364751:R111W;ENSP00000407722:R113W;ENSP00000386551:R78W;ENSP00000405639:R105W;ENSP00000364747:R105W;ENSP00000405996:R27W	ENSP00000364747:R105W	R	+	1	2	MCF2L	112747626	1.000000	0.71417	0.984000	0.44739	0.951000	0.60555	1.682000	0.37628	0.503000	0.28060	0.561000	0.74099	CGG		0.667	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			5	90	0	0	0	1	0	5	90				
SLITRK4	139065	broad.mit.edu	37	X	142717275	142717275	+	Silent	SNP	G	G	A			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:142717275G>A	ENST00000381779.4	-	2	1875	c.1650C>T	c.(1648-1650)agC>agT	p.S550S	SLITRK4_ENST00000356928.1_Silent_p.S550S|SLITRK4_ENST00000338017.4_Silent_p.S550S	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	550	LRRCT 2.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CAATCCCGTCGCTCAACTTCT	0.438																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(1648-1650)agC>agT		SLIT and NTRK-like family, member 4							143.0	136.0	139.0					X																	142717275		2203	4300	6503	SO:0001819	synonymous_variant	139065					integral to membrane		g.chrX:142717275G>A	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1650C>T	X.37:g.142717275G>A						SLITRK4_ENST00000356928.1_Silent_p.S550S|SLITRK4_ENST00000338017.4_Silent_p.S550S	p.S550S	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	1875	-	Acute lymphoblastic leukemia(192;6.56e-05)		550			LRRCT 2.		Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	ENST00000381779.4	37	c.1650C>T	CCDS14679.1																																																																																				0.438	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		82	152	0	0	0	1	0	82	152				
ATG2B	55102	broad.mit.edu	37	14	96757939	96757939	+	Silent	SNP	A	A	G			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr14:96757939A>G	ENST00000359933.4	-	38	6470	c.5577T>C	c.(5575-5577)caT>caC	p.H1859H	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1859					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TCACTTACCCATGTCGATAGG	0.348																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(5575-5577)caT>caC		autophagy related 2B							87.0	92.0	90.0					14																	96757939		2203	4300	6503	SO:0001819	synonymous_variant	55102							g.chr14:96757939A>G	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.5577T>C	14.37:g.96757939A>G						ATG2B_ENST00000261834.5_5'UTR	p.H1859H	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	38	6470	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1859					Q6ZRE7|Q96DQ3|Q9NW80	Silent	SNP	ENST00000359933.4	37	c.5577T>C	CCDS9944.2																																																																																				0.348	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		18	157	0	0	0	1	0	18	157				
TMEM132B	114795	broad.mit.edu	37	12	125834834	125834834	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr12:125834834G>A	ENST00000299308.3	+	2	897	c.889G>A	c.(889-891)Gcc>Acc	p.A297T		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	297						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGGGGACACGGCCACCTTTTT	0.532																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(889-891)Gcc>Acc		transmembrane protein 132B							191.0	181.0	184.0					12																	125834834		1964	4134	6098	SO:0001583	missense	114795					integral to membrane		g.chr12:125834834G>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.889G>A	12.37:g.125834834G>A	ENSP00000299308:p.Ala297Thr						p.A297T	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	2	897	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		297					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.889G>A	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417556	0.62622	.	.	ENSG00000139364	ENST00000299308	T	0.11930	2.73	5.34	4.45	0.53987	.	.	.	.	.	T	0.14787	0.0357	L	0.50333	1.59	0.80722	D	1	B	0.20052	0.041	B	0.12156	0.007	T	0.02588	-1.1137	9	0.35671	T	0.21	.	13.9468	0.64089	0.0728:0.0:0.9272:0.0	.	297	Q14DG7	T132B_HUMAN	T	297	ENSP00000299308:A297T	ENSP00000299308:A297T	A	+	1	0	TMEM132B	124400787	1.000000	0.71417	0.986000	0.45419	0.988000	0.76386	5.483000	0.66838	1.250000	0.43966	0.655000	0.94253	GCC		0.532	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		16	343	0	0	0	1	0	16	343				
ATP10B	23120	broad.mit.edu	37	5	160067534	160067534	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr5:160067534G>A	ENST00000327245.5	-	10	1780	c.934C>T	c.(934-936)Cgc>Tgc	p.R312C	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	312					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATATTCATGCGCCGCTCAATC	0.473																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(934-936)Cgc>Tgc		ATPase, class V, type 10B							188.0	189.0	189.0					5																	160067534		2007	4204	6211	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160067534G>A	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.934C>T	5.37:g.160067534G>A	ENSP00000313600:p.Arg312Cys						p.R312C	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		10	1780	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	312					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.934C>T	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.330379	0.81690	.	.	ENSG00000118322	ENST00000327245	D	0.91068	-2.78	5.11	5.11	0.69529	ATPase, P-type, ATPase-associated domain (1);	0.065260	0.64402	D	0.000014	D	0.96134	0.8740	M	0.90759	3.145	0.54753	D	0.999985	D;P;D;D	0.89917	1.0;0.515;1.0;0.999	D;B;D;D	0.72338	0.977;0.077;0.977;0.916	D	0.96596	0.9441	9	.	.	.	.	17.8953	0.88886	0.0:0.0:1.0:0.0	.	356;312;284;312	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	C	312	ENSP00000313600:R312C	.	R	-	1	0	ATP10B	160000112	0.232000	0.23762	1.000000	0.80357	0.993000	0.82548	2.137000	0.42130	2.547000	0.85894	0.650000	0.86243	CGC		0.473	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		10	260	0	0	0	1	0	10	260				
C12orf36	283422	broad.mit.edu	37	12	13529264	13529264	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr12:13529264G>A	ENST00000318426.2	-	2	293	c.76C>T	c.(76-78)Cct>Tct	p.P26S	C12orf36_ENST00000527705.2_Missense_Mutation_p.P26S|C12orf36_ENST00000531049.1_5'UTR|C12orf36_ENST00000539026.1_Missense_Mutation_p.P26S|C12orf36_ENST00000532841.1_Missense_Mutation_p.P26S					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		tcttcatcaggaacacacaga	0.463																																						ENST00000318426.2																			0				lung(3)|skin(3)	6						c.(76-78)Cct>Tct		chromosome 12 open reading frame 36							91.0	90.0	90.0					12																	13529264		2203	4300	6503	SO:0001583	missense	283422							g.chr12:13529264G>A	AK091129		12p13.1	2012-08-14			ENSG00000180861	ENSG00000180861			26598	protein-coding gene	gene with protein product							Standard	NR_036555		Approved	FLJ33810	uc001rbs.2	Q495D7	OTTHUMG00000167562	ENST00000318426.2:c.76C>T	12.37:g.13529264G>A	ENSP00000443007:p.Pro26Ser					C12orf36_ENST00000532841.1_Missense_Mutation_p.P26S|C12orf36_ENST00000539026.1_Missense_Mutation_p.P26S|C12orf36_ENST00000527705.2_Missense_Mutation_p.P26S|C12orf36_ENST00000531049.1_5'UTR	p.P26S						BRCA - Breast invasive adenocarcinoma(232;0.198)	2	293	-									Missense_Mutation	SNP	ENST00000318426.2	37	c.76C>T		.	.	.	.	.	.	.	.	.	.	G	3.155	-0.173316	0.06421	.	.	ENSG00000180861	ENST00000318426;ENST00000527705;ENST00000539026;ENST00000532841	T;T;T;T	0.61274	1.46;1.46;0.3;0.12	2.18	0.164	0.14990	.	.	.	.	.	T	0.42944	0.1225	.	.	.	0.09310	N	1	B	0.23540	0.087	B	0.26416	0.069	T	0.41858	-0.9485	8	0.87932	D	0	.	3.4866	0.07622	0.1665:0.2645:0.569:0.0	.	26	Q495D7	CL036_HUMAN	S	26	ENSP00000443007:P26S;ENSP00000443346:P26S;ENSP00000445251:P26S;ENSP00000440159:P26S	ENSP00000443007:P26S	P	-	1	0	C12orf36	13420531	0.001000	0.12720	0.001000	0.08648	0.015000	0.08874	0.441000	0.21611	0.033000	0.15463	0.462000	0.41574	CCT		0.463	C12orf36-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395025.2	NM_182558		4	35	0	0	0	1	0	4	35				
MYH15	22989	broad.mit.edu	37	3	108220660	108220660	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr3:108220660G>T	ENST00000273353.3	-	4	354	c.298C>A	c.(298-300)Cca>Aca	p.P100T		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	100						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCAAACTCTGGAGGATTCATC	0.443																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(298-300)Cca>Aca		myosin, heavy chain 15							142.0	140.0	141.0					3																	108220660		1969	4193	6162	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108220660G>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.298C>A	3.37:g.108220660G>T	ENSP00000273353:p.Pro100Thr						p.P100T	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			4	354	-			100			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.298C>A	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417493	0.62622	.	.	ENSG00000144821	ENST00000273353	T	0.72167	-0.63	5.58	2.8	0.32819	Myosin head, motor domain (1);	.	.	.	.	T	0.81394	0.4813	M	0.82323	2.585	0.47009	D	0.99928	P	0.47191	0.891	P	0.57846	0.828	T	0.81745	-0.0792	9	0.87932	D	0	.	11.5101	0.50488	0.0:0.2988:0.5814:0.1198	.	100	Q9Y2K3	MYH15_HUMAN	T	100	ENSP00000273353:P100T	ENSP00000273353:P100T	P	-	1	0	MYH15	109703350	1.000000	0.71417	0.008000	0.14137	0.651000	0.38670	4.143000	0.58051	0.293000	0.22520	0.591000	0.81541	CCA		0.443	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		4	236	1	0	0.184627	1	0.200452	4	236				
ENPP2	5168	broad.mit.edu	37	8	120608098	120608098	+	Intron	SNP	G	G	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr8:120608098G>T	ENST00000075322.6	-	12	1031				ENPP2_ENST00000522826.1_Intron|ENPP2_ENST00000427067.2_Intron|ENPP2_ENST00000259486.6_Missense_Mutation_p.R373S|ENPP2_ENST00000522167.1_5'Flank	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2						cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R373S(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTGTCCTGACGAGTTTCCGCA	0.458																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000259486.6																			1	Substitution - Missense(1)	p.R373S(1)	lung(1)	breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(1117-1119)Cgt>Agt		ectonucleotide pyrophosphatase/phosphodiesterase 2							149.0	148.0	149.0					8																	120608098		2203	4300	6503	SO:0001627	intron_variant	0				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120608098G>T	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.973-1998C>A	8.37:g.120608098G>T						ENPP2_ENST00000522826.1_Intron|ENPP2_ENST00000075322.6_Intron|ENPP2_ENST00000427067.2_Intron	p.R373S	NM_006209.4	NP_006200.3	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		12	1166	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		324					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.1117C>A	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218821	0.58560	.	.	ENSG00000136960	ENST00000259486	T	0.72167	-0.63	6.07	6.07	0.98685	.	0.000000	0.40728	N	0.001027	T	0.81226	0.4778	.	.	.	0.80722	D	1	D	0.67145	0.996	D	0.79108	0.992	T	0.74331	-0.3700	9	0.17369	T	0.5	.	18.8398	0.92177	0.0:0.0:1.0:0.0	.	373	Q13822-2	.	S	373	ENSP00000259486:R373S	ENSP00000259486:R373S	R	-	1	0	ENPP2	120677279	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	6.069000	0.71209	2.885000	0.99019	0.655000	0.94253	CGT		0.458	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			4	249	1	0	1	1	1	4	249				
ZNF41	7592	broad.mit.edu	37	X	47307606	47307606	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:47307606T>G	ENST00000377065.4	-	5	2202	c.1563A>C	c.(1561-1563)aaA>aaC	p.K521N	ZNF41_ENST00000313116.7_Missense_Mutation_p.K521N|ZNF41_ENST00000397050.2_Missense_Mutation_p.K531N|ZNF41_ENST00000465311.1_5'Flank	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	563					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)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ACATATAGGGTTTTTCCCCAG	0.418																																						ENST00000377065.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24						c.(1561-1563)aaA>aaC		zinc finger protein 41							106.0	102.0	104.0					X																	47307606		2203	4300	6503	SO:0001583	missense	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47307606T>G	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1563A>C	X.37:g.47307606T>G	ENSP00000366265:p.Lys521Asn					ZNF41_ENST00000397050.2_Missense_Mutation_p.K531N|ZNF41_ENST00000313116.7_Missense_Mutation_p.K521N	p.K521N	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN			5	2202	-		all_lung(315;0.000129)	563					A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	ENST00000377065.4	37	c.1563A>C	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	T	16.50	3.141623	0.57044	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.26067	1.76;1.76;1.76	3.98	-1.0	0.10196	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37012	N	0.002292	T	0.43233	0.1238	M	0.73962	2.25	0.24834	N	0.992502	D;D;D;D;D	0.89917	1.0;1.0;0.979;1.0;1.0	D;D;P;D;D	0.80764	0.985;0.985;0.559;0.985;0.994	T	0.26608	-1.0098	10	0.87932	D	0	.	7.8916	0.29682	0.0:0.4208:0.0:0.5792	.	521;523;531;555;563	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	N	521;521;531	ENSP00000315173:K521N;ENSP00000366265:K521N;ENSP00000380243:K531N	ENSP00000315173:K521N	K	-	3	2	ZNF41	47192550	0.099000	0.21834	0.327000	0.25402	0.969000	0.65631	-0.341000	0.07811	-0.298000	0.08921	0.486000	0.48141	AAA		0.418	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		22	193	0	0	0	1	0	22	193				
SLC38A6	145389	broad.mit.edu	37	14	61451520	61451520	+	Splice_Site	SNP	A	A	G			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr14:61451520A>G	ENST00000267488.4	+	3	425	c.309A>G	c.(307-309)acA>acG	p.T103T	SLC38A6_ENST00000354886.2_Splice_Site_p.T103T|SLC38A6_ENST00000456840.2_Splice_Site_p.T80T|RP11-193F5.1_ENST00000553946.1_RNA|SLC38A6_ENST00000554304.1_3'UTR	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	103					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		GTATTCAGACAGGTGAGTAAA	0.378																																						ENST00000354886.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21						c.e3+1		solute carrier family 38, member 6							156.0	143.0	147.0					14																	61451520		2203	4300	6503	SO:0001630	splice_region_variant	145389				amino acid transport|sodium ion transport	integral to membrane		g.chr14:61451520A>G	AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"""Solute carriers"""	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335	ENST00000267488.4:c.310+1A>G	14.37:g.61451520A>G						SLC38A6_ENST00000456840.2_Splice_Site_p.T80_splice|SLC38A6_ENST00000267488.4_Splice_Site_p.T103_splice|SLC38A6_ENST00000554304.1_3'UTR	p.T103_splice	NM_001172702.1	NP_001166173.1	Q8IZM9	S38A6_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0981)	3	473	+			103					C9JWA6|Q86SY5	Splice_Site	SNP	ENST00000267488.4	37	c.310_splice	CCDS9751.1	.	.	.	.	.	.	.	.	.	.	A	11.73	1.727030	0.30593	.	.	ENSG00000139974	ENST00000533744	.	.	.	5.53	1.52	0.23074	.	.	.	.	.	T	0.53594	0.1806	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42932	-0.9422	4	.	.	.	-3.2214	6.1923	0.20530	0.2994:0.3274:0.0:0.3732	.	.	.	.	R	52	.	.	Q	+	2	0	SLC38A6	60521273	0.998000	0.40836	1.000000	0.80357	0.788000	0.44548	0.587000	0.23909	0.353000	0.24079	-0.524000	0.04348	CAG		0.378	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1		Silent	13	175	0	0	0	1	0	13	175				
TPR	7175	broad.mit.edu	37	1	186315342	186315342	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr1:186315342C>G	ENST00000367478.4	-	23	3317	c.3021G>C	c.(3019-3021)aaG>aaC	p.K1007N		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1007					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTTCCATCAACTTCTTTTCCA	0.353			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(3019-3021)aaG>aaC		translocated promoter region, nuclear basket protein							181.0	161.0	167.0					1																	186315342		1847	4097	5944	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186315342C>G	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.3021G>C	1.37:g.186315342C>G	ENSP00000356448:p.Lys1007Asn						p.K1007N	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	23	3317	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1007					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.3021G>C	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508910	0.64410	.	.	ENSG00000047410	ENST00000367478	T	0.26660	1.72	5.66	1.11	0.20524	Prefoldin (1);	0.102278	0.64402	D	0.000004	T	0.26376	0.0644	L	0.29908	0.895	0.36009	D	0.837919	D	0.64830	0.994	P	0.54270	0.747	T	0.19484	-1.0304	10	0.48119	T	0.1	.	9.8887	0.41276	0.0:0.6128:0.0:0.3872	.	1007	P12270	TPR_HUMAN	N	1007	ENSP00000356448:K1007N	ENSP00000356448:K1007N	K	-	3	2	TPR	184581965	0.000000	0.05858	0.997000	0.53966	0.998000	0.95712	-0.344000	0.07780	0.313000	0.23062	0.650000	0.86243	AAG		0.353	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		11	172	0	0	0	1	0	11	172				
PREX1	57580	broad.mit.edu	37	20	47305216	47305216	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr20:47305216A>G	ENST00000371941.3	-	10	1335	c.1313T>C	c.(1312-1314)gTc>gCc	p.V438A	PREX1_ENST00000396220.1_Missense_Mutation_p.V438A	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	438	DEP 1. {ECO:0000255|PROSITE- ProRule:PRU00066}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCACTTGGGGACAGTGCTCAG	0.562																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(1312-1314)gTc>gCc		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							163.0	119.0	134.0					20																	47305216		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47305216A>G	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1313T>C	20.37:g.47305216A>G	ENSP00000361009:p.Val438Ala					PREX1_ENST00000371941.3_Missense_Mutation_p.V438A	p.V438A			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		10	1335	-			438			DEP 1.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.1313T>C	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	A	18.86	3.712696	0.68730	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.14266	2.52;2.52	5.01	5.01	0.66863	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.124813	0.34725	U	0.003730	T	0.20941	0.0504	M	0.67397	2.05	0.52099	D	0.999941	B	0.30605	0.287	B	0.36092	0.217	T	0.02059	-1.1221	10	0.42905	T	0.14	.	14.7582	0.69583	1.0:0.0:0.0:0.0	.	438	Q8TCU6	PREX1_HUMAN	A	438	ENSP00000361009:V438A;ENSP00000379522:V438A	ENSP00000361009:V438A	V	-	2	0	PREX1	46738623	1.000000	0.71417	0.892000	0.35008	0.996000	0.88848	9.202000	0.95026	1.883000	0.54544	0.460000	0.39030	GTC		0.562	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		9	88	0	0	0	1	0	9	88				
TTN	7273	broad.mit.edu	37	2	179645981	179645981	+	Silent	SNP	C	C	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr2:179645981C>T	ENST00000591111.1	-	21	3614	c.3390G>A	c.(3388-3390)gtG>gtA	p.V1130V	RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000589042.1_Silent_p.V1130V|TTN_ENST00000342992.6_Silent_p.V1130V|TTN_ENST00000342175.6_Silent_p.V1084V|TTN_ENST00000360870.5_Silent_p.V1130V|TTN_ENST00000359218.5_Silent_p.V1084V|TTN_ENST00000460472.2_Silent_p.V1084V			Q8WZ42	TITIN_HUMAN	titin	33347	Ig-like 4.				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)			TGTTGTAACTCACTTTGTATC	0.353																																						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.(3388-3390)gtG>gtA		titin							198.0	174.0	182.0					2																	179645981		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179645981C>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.3390G>A	2.37:g.179645981C>T						TTN_ENST00000460472.2_Silent_p.V1084V|TTN_ENST00000591111.1_Silent_p.V1130V|TTN_ENST00000359218.5_Silent_p.V1084V|TTN_ENST00000360870.5_Silent_p.V1130V|TTN_ENST00000342992.6_Silent_p.V1130V|TTN_ENST00000342175.6_Silent_p.V1084V	p.V1130V	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)		21	3614	-			1130			Ig-like 4.		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	Silent	SNP	ENST00000591111.1	37	c.3390G>A																																																																																					0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	70	0	0	0	1	0	23	70				
ZFAND4	93550	broad.mit.edu	37	10	46135292	46135292	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr10:46135292T>C	ENST00000344646.5	-	6	904	c.689A>G	c.(688-690)aAg>aGg	p.K230R	ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374366.3_Missense_Mutation_p.K156R|ZFAND4_ENST00000374371.2_Intron	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	230							zinc ion binding (GO:0008270)										GTTCTTCATCTTAGCCTTCAG	0.413																																						ENST00000374366.3																			0											c.(466-468)aAg>aGg		zinc finger, AN1-type domain 4							159.0	146.0	150.0					10																	46135292		2203	4300	6503	SO:0001583	missense	93550						zinc ion binding	g.chr10:46135292T>C	AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.689A>G	10.37:g.46135292T>C	ENSP00000339484:p.Lys230Arg					ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000344646.5_Missense_Mutation_p.K230R	p.K156R			Q86XD8	ANUB1_HUMAN			7	932	-			230					A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	ENST00000344646.5	37	c.467A>G	CCDS7214.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.476494	0.84640	.	.	ENSG00000172671	ENST00000344646;ENST00000374366;ENST00000374370	T;T	0.33438	1.42;1.41	5.63	5.63	0.86233	.	1.486010	0.04094	N	0.311793	T	0.60196	0.2250	M	0.68593	2.085	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.09773	-1.0659	10	0.66056	D	0.02	-28.5568	13.8015	0.63204	0.0:0.0:0.0:1.0	.	230	Q86XD8	ANUB1_HUMAN	R	230;156;112	ENSP00000339484:K230R;ENSP00000363486:K156R	ENSP00000339484:K230R	K	-	2	0	ANUBL1	45455298	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	7.480000	0.81109	2.157000	0.67596	0.482000	0.46254	AAG		0.413	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890		3	179	0	0	0	1	0	3	179				
MRGPRX3	117195	broad.mit.edu	37	11	18158870	18158870	+	Missense_Mutation	SNP	G	G	A	rs184402606	byFrequency	TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr11:18158870G>A	ENST00000396275.2	+	3	482	c.121G>A	c.(121-123)Gcg>Acg	p.A41T		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TTCCCTTGTCGCGCTGACAGG	0.592													g|||	4	0.000798722	0.0023	0.0	5008	,	,		21199	0.001		0.0	False		,,,				2504	0.0					ENST00000396275.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(121-123)Gcg>Acg		MAS-related GPR, member X3							141.0	136.0	138.0					11																	18158870		2200	4293	6493	SO:0001583	missense	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18158870G>A		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.121G>A	11.37:g.18158870G>A	ENSP00000379571:p.Ala41Thr						p.A41T	NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN			3	482	+			41					B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	c.121G>A	CCDS7830.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	12.71	2.018974	0.35606	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.09350	2.99;2.99	1.46	0.495	0.16890	.	0.000000	0.64402	D	0.000005	T	0.03095	0.0091	N	0.08118	0	0.21020	N	0.999809	B	0.12013	0.005	B	0.04013	0.001	T	0.33650	-0.9860	10	0.87932	D	0	.	5.8267	0.18558	0.2002:0.0:0.7998:0.0	.	41	Q96LB0	MRGX3_HUMAN	T	41	ENSP00000379571:A41T;ENSP00000436242:A41T	ENSP00000379571:A41T	A	+	1	0	MRGPRX3	18115446	0.967000	0.33354	0.063000	0.19743	0.001000	0.01503	1.858000	0.39408	0.167000	0.19631	-0.450000	0.05554	GCG		0.592	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		69	172	0	0	0	1	0	69	172				
TLR7	51284	broad.mit.edu	37	X	12906720	12906720	+	Silent	SNP	C	C	T	rs201628325		TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:12906720C>T	ENST00000380659.3	+	3	3232	c.3093C>T	c.(3091-3093)aaC>aaT	p.N1031N		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	1031	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	GTCTAAAGAACGCCCTGGCCA	0.517																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(3091-3093)aaC>aaT		toll-like receptor 7	Imiquimod(DB00724)	C		0,3835		0,0,1632,571	105.0	103.0	104.0		3093	0.8	1.0	X		104	1,6727		0,1,2427,1872	no	coding-synonymous	TLR7	NM_016562.3		0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095		1031/1050	12906720	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12906720C>T	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.3093C>T	X.37:g.12906720C>T							p.N1031N	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN			3	3232	+			1031			TIR.		D1CS69|Q9NR98	Silent	SNP	ENST00000380659.3	37	c.3093C>T	CCDS14151.1																																																																																				0.517	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		77	161	0	0	0	1	0	77	161				
TGFBI	7045	broad.mit.edu	37	5	135385198	135385198	+	Missense_Mutation	SNP	C	C	A	rs367862160		TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr5:135385198C>A	ENST00000442011.2	+	7	1003	c.842C>A	c.(841-843)aCc>aAc	p.T281N	TGFBI_ENST00000305126.8_Missense_Mutation_p.T281N	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	281	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTGGCCCCGACCAATGAGGCC	0.582																																						ENST00000442011.2																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(841-843)aCc>aAc		transforming growth factor, beta-induced, 68kDa		C	ASN/THR	1,4071		0,1,2035	66.0	71.0	70.0		842	5.1	1.0	5		70	0,8352		0,0,4176	no	missense	TGFBI	NM_000358.2	65	0,1,6211	AA,AC,CC		0.0,0.0246,0.0080	possibly-damaging	281/684	135385198	1,12423	2036	4176	6212	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135385198C>A	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.842C>A	5.37:g.135385198C>A	ENSP00000416330:p.Thr281Asn					TGFBI_ENST00000305126.8_Missense_Mutation_p.T281N	p.T281N	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		7	1003	+			281			FAS1 2.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.842C>A	CCDS47266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.83|19.83	3.900721|3.900721	0.72754|0.72754	2.46E-4|2.46E-4	0.0|0.0	ENSG00000120708|ENSG00000120708	ENST00000508767|ENST00000442011;ENST00000398813;ENST00000305126	.|D;D	.|0.91577	.|-2.87;-2.87	5.94|5.94	5.08|5.08	0.68730|0.68730	.|FAS1 domain (5);	.|0.085176	.|0.85682	.|D	.|0.000000	D|D	0.94152|0.94152	0.8124|0.8124	M|M	0.72353|0.72353	2.195|2.195	0.80722|0.80722	D|D	1|1	.|P;D	.|0.53619	.|0.934;0.961	.|P;P	.|0.61874	.|0.895;0.866	D|D	0.94695|0.94695	0.7877|0.7877	5|10	.|0.87932	.|D	.|0	-0.1058|-0.1058	15.1007|15.1007	0.72273|0.72273	0.0:0.9324:0.0:0.0676|0.0:0.9324:0.0:0.0676	.|.	.|14;281	.|B9ZVW9;Q15582	.|.;BGH3_HUMAN	E|N	56|281;14;281	.|ENSP00000416330:T281N;ENSP00000306306:T281N	.|ENSP00000306306:T281N	D|T	+|+	3|2	2|0	TGFBI|TGFBI	135413097|135413097	1.000000|1.000000	0.71417|0.71417	0.961000|0.961000	0.40146|0.40146	0.252000|0.252000	0.25951|0.25951	7.476000|7.476000	0.81055|0.81055	1.535000|1.535000	0.49220|0.49220	0.561000|0.561000	0.74099|0.74099	GAC|ACC		0.582	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			3	55	1	0	0.115264	1	0.128824	3	55				
ENG	2022	broad.mit.edu	37	9	130605420	130605420	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr9:130605420G>T	ENST00000373203.4	-	2	572	c.172C>A	c.(172-174)Ccc>Acc	p.P58T	RNA5SP296_ENST00000410523.1_RNA|ENG_ENST00000344849.3_Missense_Mutation_p.P58T	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	58	Required for interaction with EGL.				artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						ATGGCATTGGGGGCCTGAGCC	0.607									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																													ENST00000344849.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						c.(172-174)Ccc>Acc		endoglin							157.0	156.0	157.0					9																	130605420		2203	4300	6503	SO:0001583	missense	2022	Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	g.chr9:130605420G>T	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"""CD molecules"""	3349	protein-coding gene	gene with protein product		131195	"""Osler-Rendu-Weber syndrome 1"""	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.172C>A	9.37:g.130605420G>T	ENSP00000362299:p.Pro58Thr					ENG_ENST00000373203.4_Missense_Mutation_p.P58T	p.P58T			P17813	EGLN_HUMAN			2	452	-			58					Q14248|Q14926|Q5T9C0	Missense_Mutation	SNP	ENST00000373203.4	37	c.172C>A	CCDS48029.1	.	.	.	.	.	.	.	.	.	.	g	5.448	0.267767	0.10294	.	.	ENSG00000106991	ENST00000373203;ENST00000344849;ENST00000545345	T;T	0.38887	1.11;1.69	5.12	0.996	0.19844	.	0.698450	0.12912	N	0.428873	T	0.32010	0.0815	L	0.39898	1.24	0.19300	N	0.999972	D;D	0.59767	0.986;0.986	P;P	0.50970	0.655;0.655	T	0.20009	-1.0288	10	0.02654	T	1	-10.0606	3.6992	0.08376	0.0886:0.312:0.4385:0.1609	.	58;58	Q5T9B9;P17813	.;EGLN_HUMAN	T	58	ENSP00000362299:P58T;ENSP00000341917:P58T	ENSP00000341917:P58T	P	-	1	0	ENG	129645241	0.000000	0.05858	0.009000	0.14445	0.013000	0.08279	0.096000	0.15147	-0.084000	0.12595	0.561000	0.74099	CCC		0.607	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054313.1			4	286	1	0	0.014758	1	0.0167404	4	286				
REPS2	9185	broad.mit.edu	37	X	17073015	17073015	+	Silent	SNP	C	C	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:17073015C>T	ENST00000357277.3	+	8	1227	c.1056C>T	c.(1054-1056)aaC>aaT	p.N352N	REPS2_ENST00000303843.7_Silent_p.N351N|REPS2_ENST00000380064.4_Silent_p.N212N	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	352	EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.				epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					CTCGGAAGAACGGCTACCCAT	0.512													C|||	2	0.000529801	0.0	0.0	3775	,	,		11203	0.0		0.0	False		,,,				2504	0.002					ENST00000357277.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17						c.(1054-1056)aaC>aaT		RALBP1 associated Eps domain containing 2							157.0	120.0	132.0					X																	17073015		2203	4300	6503	SO:0001819	synonymous_variant	9185				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding	g.chrX:17073015C>T	AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891		"""EF-hand domain containing"""	9963	protein-coding gene	gene with protein product		300317				9422736, 9928989	Standard	NM_001080975		Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.1056C>T	X.37:g.17073015C>T						REPS2_ENST00000380064.4_Silent_p.N212N|REPS2_ENST00000303843.7_Silent_p.N351N	p.N352N	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN			8	1227	+	Hepatocellular(33;0.183)		352			EH 2.		A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Silent	SNP	ENST00000357277.3	37	c.1056C>T	CCDS14180.2																																																																																				0.512	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316778.1	NM_004726		20	53	0	0	0	1	0	20	53				
HSPG2	3339	broad.mit.edu	37	1	22211318	22211318	+	Silent	SNP	G	G	A	rs529678982		TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr1:22211318G>A	ENST00000374695.3	-	12	1528	c.1449C>T	c.(1447-1449)aaC>aaT	p.N483N		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	483	Ig-like C2-type 1.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TGCCCCGGGCGTTCATGGCCT	0.627																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(1447-1449)aaC>aaT		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						56.0	44.0	49.0					1																	22211318		2202	4300	6502	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22211318G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.1449C>T	1.37:g.22211318G>A							p.N483N	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	12	1528	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	483			Ig-like C2-type 1.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.1449C>T	CCDS30625.1																																																																																				0.627	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		11	19	0	0	0	1	0	11	19				
RFX6	222546	broad.mit.edu	37	6	117198501	117198501	+	Silent	SNP	C	C	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr6:117198501C>T	ENST00000332958.2	+	1	79	c.63C>T	c.(61-63)tcC>tcT	p.S21S		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	21					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CCCAACTGTCCCCGGGGATCC	0.687																																						ENST00000332958.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(61-63)tcC>tcT		regulatory factor X, 6							18.0	20.0	19.0					6																	117198501		2202	4298	6500	SO:0001819	synonymous_variant	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117198501C>T	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.63C>T	6.37:g.117198501C>T							p.S21S	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN			1	79	+			21					Q5T6B3	Silent	SNP	ENST00000332958.2	37	c.63C>T	CCDS5113.1																																																																																				0.687	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		4	18	0	0	0	1	0	4	18				
PARP14	54625	broad.mit.edu	37	3	122419983	122419983	+	Missense_Mutation	SNP	C	C	A	rs374205838		TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr3:122419983C>A	ENST00000474629.2	+	6	2848	c.2582C>A	c.(2581-2583)cCg>cAg	p.P861Q		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	861	Macro 1. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AGACTCCTACCGGGCAATGCC	0.617																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(2581-2583)cCg>cAg		poly (ADP-ribose) polymerase family, member 14							34.0	36.0	36.0					3																	122419983		2045	4179	6224	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122419983C>A	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.2582C>A	3.37:g.122419983C>A	ENSP00000418194:p.Pro861Gln						p.P861Q	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	6	2848	+			861			Macro 1.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.2582C>A	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560307	0.65538	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.25414	1.8	6.06	2.35	0.29111	Appr-1-p processing (3);	0.836138	0.10829	N	0.629541	T	0.55114	0.1900	M	0.91354	3.2	0.09310	N	1	D;D	0.76494	0.999;0.998	D;D	0.68483	0.958;0.958	T	0.38929	-0.9638	10	0.59425	D	0.04	.	8.6823	0.34216	0.0:0.6527:0.0:0.3473	.	861;861	Q460N5-4;Q460N5	.;PAR14_HUMAN	Q	861;780	ENSP00000418194:P861Q	ENSP00000381228:P780Q	P	+	2	0	PARP14	123902673	0.000000	0.05858	0.000000	0.03702	0.109000	0.19521	1.218000	0.32467	0.464000	0.27142	0.655000	0.94253	CCG		0.617	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		4	30	1	0	1	1	1	4	30				
HHAT	55733	broad.mit.edu	37	1	210761338	210761338	+	Silent	SNP	C	C	T	rs139136517		TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr1:210761338C>T	ENST00000367010.1	+	10	1367	c.1140C>T	c.(1138-1140)ggC>ggT	p.G380G	HHAT_ENST00000391905.3_Silent_p.G380G|HHAT_ENST00000537898.1_Silent_p.G315G|HHAT_ENST00000261458.3_Silent_p.G380G|HHAT_ENST00000367009.1_Silent_p.G70G|HHAT_ENST00000413764.2_Silent_p.G380G|HHAT_ENST00000545154.1_Silent_p.G381G|HHAT_ENST00000308852.6_Silent_p.G335G|HHAT_ENST00000541565.1_Silent_p.G243G|HHAT_ENST00000545781.1_Silent_p.G317G	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	380					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		ACTGGCATGGCGGCTACGACT	0.587													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18394	0.0		0.0	False		,,,				2504	0.0					ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(1138-1140)ggC>ggT		hedgehog acyltransferase		C	,,,,,	1,4405	2.1+/-5.4	0,1,2202	69.0	60.0	63.0		1140,729,1140,1143,945,1140	-8.5	0.2	1	dbSNP_134	63	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HHAT	NM_001122834.2,NM_001170564.1,NM_001170580.1,NM_001170587.1,NM_001170588.1,NM_018194.4	,,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,,	380/494,243/357,380/494,381/495,315/429,380/494	210761338	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210761338C>T	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.1140C>T	1.37:g.210761338C>T						HHAT_ENST00000308852.6_Silent_p.G335G|HHAT_ENST00000391905.3_Silent_p.G380G|HHAT_ENST00000545154.1_Silent_p.G381G|HHAT_ENST00000367009.1_Silent_p.G70G|HHAT_ENST00000545781.1_Silent_p.G317G|HHAT_ENST00000541565.1_Silent_p.G243G|HHAT_ENST00000413764.2_Silent_p.G380G|HHAT_ENST00000537898.1_Silent_p.G315G|HHAT_ENST00000261458.3_Silent_p.G380G	p.G380G	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	10	1367	+			380					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Silent	SNP	ENST00000367010.1	37	c.1140C>T	CCDS1495.1																																																																																				0.587	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		6	57	0	0	0	1	0	6	57				
TMEM245	23731	broad.mit.edu	37	9	111853321	111853321	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr9:111853321G>C	ENST00000374586.3	-	5	1062	c.1031C>G	c.(1030-1032)aCg>aGg	p.T344R		NM_032012.3	NP_114401.2	Q9H330	TM245_HUMAN	transmembrane protein 245	344						integral component of membrane (GO:0016021)											TCTAAGAAACGTTCCTATTTC	0.502																																						ENST00000374586.3																			0											c.(1030-1032)aCg>aGg		transmembrane protein 245							118.0	121.0	120.0					9																	111853321		1951	4144	6095	SO:0001583	missense	23731					integral to membrane		g.chr9:111853321G>C	AF153415	CCDS43858.1	9q31	2012-03-06	2012-03-06	2012-03-06	ENSG00000106771	ENSG00000106771			1363	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 5"""	C9orf5		10564813	Standard	NM_032012		Approved	CG-2	uc004bdt.4	Q9H330	OTTHUMG00000020469	ENST00000374586.3:c.1031C>G	9.37:g.111853321G>C	ENSP00000363714:p.Thr344Arg						p.T344R	NM_032012.3	NP_114401.2	Q9H330	CI005_HUMAN			5	1062	-			344					B4DSW7|Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	Missense_Mutation	SNP	ENST00000374586.3	37	c.1031C>G	CCDS43858.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.671436	0.29693	.	.	ENSG00000106771	ENST00000374587;ENST00000374586;ENST00000223608	T	0.22743	1.94	5.9	5.9	0.94986	.	0.338488	0.31358	N	0.007794	T	0.22513	0.0543	L	0.47716	1.5	0.09310	N	1	B;B	0.28082	0.107;0.2	B;B	0.30716	0.119;0.084	T	0.12553	-1.0543	10	0.34782	T	0.22	-7.6891	15.0393	0.71777	0.0:0.0:0.8579:0.1421	.	344;344	Q9H330-2;Q9H330	.;CI005_HUMAN	R	344	ENSP00000363714:T344R	ENSP00000223608:T344R	T	-	2	0	C9orf5	110893142	0.797000	0.28877	0.021000	0.16686	0.534000	0.34807	5.302000	0.65733	2.793000	0.96121	0.563000	0.77884	ACG		0.502	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053587.2	NM_032012		9	75	0	0	0	1	0	9	75				
MXRA5	25878	broad.mit.edu	37	X	3228182	3228182	+	Missense_Mutation	SNP	C	C	T	rs573265184		TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:3228182C>T	ENST00000217939.6	-	7	8216	c.8062G>A	c.(8062-8064)Gtt>Att	p.V2688I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2688	Ig-like C2-type 11.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGAAGAGAAACGCGTCCCAGG	0.627													c|||	20	0.00529801	0.0	0.0	3775	,	,		12871	0.0		0.0	False		,,,				2504	0.0204					ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(8062-8064)Gtt>Att		matrix-remodelling associated 5							37.0	37.0	37.0					X																	3228182		2203	4295	6498	SO:0001583	missense	25878					extracellular region		g.chrX:3228182C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.8062G>A	X.37:g.3228182C>T	ENSP00000217939:p.Val2688Ile						p.V2688I	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			7	8216	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2688			Ig-like C2-type 11.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.8062G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	4.644	0.119809	0.08881	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.28069	1.63	4.32	-8.65	0.00870	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.201360	0.06423	N	0.722695	T	0.17577	0.0422	N	0.20483	0.58	0.09310	N	1	B	0.23735	0.09	B	0.24394	0.053	T	0.28554	-1.0040	10	0.32370	T	0.25	.	11.8218	0.52242	0.1847:0.6137:0.0:0.2016	.	2688	Q9NR99	MXRA5_HUMAN	I	2688	ENSP00000217939:V2688I	ENSP00000217939:V2688I	V	-	1	0	MXRA5	3238182	1.000000	0.71417	0.000000	0.03702	0.001000	0.01503	1.402000	0.34600	-2.788000	0.00357	-1.886000	0.00541	GTT		0.627	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		48	74	0	0	0	1	0	48	74				
CCDC7	79741	broad.mit.edu	37	10	33134208	33134208	+	Silent	SNP	A	A	G			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr10:33134208A>G	ENST00000375028.3	+	13	1201	c.1131A>G	c.(1129-1131)agA>agG	p.R377R	C10orf68_ENST00000375030.2_Intron|C10orf68_ENST00000375025.4_Silent_p.R437R			Q9H943	CJ068_HUMAN		374										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						ATACTGGAAGAGGTATAATAA	0.303																																						ENST00000375028.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						c.(1129-1131)agA>agG		chromosome 10 open reading frame 68																																				SO:0001819	synonymous_variant	79741							g.chr10:33134208A>G																												ENST00000375028.3:c.1131A>G	10.37:g.33134208A>G						C10orf68_ENST00000375030.2_Intron|C10orf68_ENST00000375025.4_Silent_p.R437R	p.R377R			Q9H943	CJ068_HUMAN			13	1201	+			373					B0QZ71|Q08AN7|Q8N7T7	Silent	SNP	ENST00000375028.3	37	c.1131A>G																																																																																					0.303	C10orf68-002	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000314000.2			2	23	0	0	0	1	0	2	23				
SCN4A	6329	broad.mit.edu	37	17	62018859	62018859	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr17:62018859C>T	ENST00000435607.1	-	24	4859	c.4783G>A	c.(4783-4785)Gcc>Acc	p.A1595T	SCN4A_ENST00000578147.1_Missense_Mutation_p.A1595T	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1595					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGATGATGGCGATGTACATG	0.517																																						ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(4783-4785)Gcc>Acc		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						75.0	80.0	79.0					17																	62018859		2197	4294	6491	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62018859C>T	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4783G>A	17.37:g.62018859C>T	ENSP00000396320:p.Ala1595Thr					SCN4A_ENST00000435607.1_Missense_Mutation_p.A1595T	p.A1595T			P35499	SCN4A_HUMAN			24	4859	-			1595					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.4783G>A	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348807	0.82132	.	.	ENSG00000007314	ENST00000435607	D	0.99239	-5.61	3.91	3.91	0.45181	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99622	0.9862	H	0.97587	4.035	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.97390	0.9988	10	0.87932	D	0	.	15.4415	0.75187	0.0:1.0:0.0:0.0	.	1595	P35499	SCN4A_HUMAN	T	1595	ENSP00000396320:A1595T	ENSP00000396320:A1595T	A	-	1	0	SCN4A	59372591	1.000000	0.71417	0.984000	0.44739	0.864000	0.49448	7.609000	0.82925	2.180000	0.69256	0.561000	0.74099	GCC		0.517	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		3	77	0	0	0	1	0	3	77				
C6	729	broad.mit.edu	37	5	41149347	41149347	+	Silent	SNP	A	A	G			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr5:41149347A>G	ENST00000263413.3	-	17	2883	c.2619T>C	c.(2617-2619)tgT>tgC	p.C873C	C6_ENST00000337836.5_Silent_p.C873C	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	873	C5b-binding domain.|Factor I module (FIM) 2.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACTTACCTGAACATTTTTCCC	0.398																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(2617-2619)tgT>tgC		complement component 6							255.0	247.0	250.0					5																	41149347		2203	4300	6503	SO:0001819	synonymous_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41149347A>G	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2619T>C	5.37:g.41149347A>G						C6_ENST00000337836.5_Silent_p.C873C	p.C873C	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			17	2883	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	873			C5b-binding domain.|Complement control factor I module 2.			Silent	SNP	ENST00000263413.3	37	c.2619T>C	CCDS3936.1																																																																																				0.398	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			182	242	0	0	0	1	0	182	242				
HOXA4	3201	broad.mit.edu	37	7	27169089	27169089	+	Silent	SNP	G	G	A			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr7:27169089G>A	ENST00000360046.5	-	2	783	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L	HOXA-AS3_ENST00000518848.1_RNA|HOXA3_ENST00000521401.1_Intron|HOXA4_ENST00000428284.2_Silent_p.L240L|HOXA-AS2_ENST00000521687.1_RNA|HOXA-AS2_ENST00000517550.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS2_ENST00000521159.1_RNA|HOXA3_ENST00000317201.2_5'Flank	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	240					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						CGCCGGGTCAGGTATCGATTG	0.572																																						ENST00000360046.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						c.(718-720)Ctg>Ttg		homeobox A4							125.0	116.0	119.0					7																	27169089		2203	4300	6503	SO:0001819	synonymous_variant	3201					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27169089G>A		CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"""Homeoboxes / ANTP class : HOXL subclass"""	5105	protein-coding gene	gene with protein product		142953	"""homeo box A4"""	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.718C>T	7.37:g.27169089G>A						HOXA4_ENST00000428284.2_Silent_p.L240L|HOXA3_ENST00000467897.2_5'UTR|HOXA-AS2_ENST00000521159.1_RNA	p.L240L	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN			2	783	-			240					A4D180|O43366	Silent	SNP	ENST00000360046.5	37	c.718C>T	CCDS5405.1	.	.	.	.	.	.	.	.	.	.	G	8.123	0.781313	0.16120	.	.	ENSG00000197576	ENST00000511914	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	T	0.74981	0.3788	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73830	-0.3859	4	.	.	.	.	18.9816	0.92757	0.0:0.0:1.0:0.0	.	.	.	.	L	59	.	.	P	-	2	0	HOXA4	27135614	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.896000	0.87350	2.485000	0.83878	0.555000	0.69702	CCT		0.572	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059534.4			40	75	0	0	0	1	0	40	75				
ST3GAL4	6484	broad.mit.edu	37	11	126278326	126278326	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr11:126278326G>A	ENST00000526727.1	+	7	936	c.562G>A	c.(562-564)Gtc>Atc	p.V188I	ST3GAL4_ENST00000392669.2_Missense_Mutation_p.V188I|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.V188I|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.V188I|ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.V187I|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.V184I|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.V183I|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.V194I|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.V184I|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.V177I			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	188					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288)			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		CACACTCCTCGTCCTGGTAGC	0.547																																						ENST00000526727.1																			0				endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9						c.(562-564)Gtc>Atc		ST3 beta-galactoside alpha-2,3-sialyltransferase 4							114.0	90.0	98.0					11																	126278326		2201	4298	6499	SO:0001583	missense	6484				post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr11:126278326G>A	X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"""Sialyltransferases"""	10864	protein-coding gene	gene with protein product	"""ST3Gal IV"""	104240	"""sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"""	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.562G>A	11.37:g.126278326G>A	ENSP00000436047:p.Val188Ile					ST3GAL4_ENST00000534083.1_Missense_Mutation_p.V188I|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.V184I|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.V183I|ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.V187I|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.V177I|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.V188I|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.V188I|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.V194I|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.V184I	p.V188I			Q11206	SIA4C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)	7	936	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)	188					A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Missense_Mutation	SNP	ENST00000526727.1	37	c.562G>A	CCDS58193.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607252	0.87157	.	.	ENSG00000110080	ENST00000227495;ENST00000444328;ENST00000356132;ENST00000530591;ENST00000534083;ENST00000528858;ENST00000392669;ENST00000526727;ENST00000449406;ENST00000532243;ENST00000534457;ENST00000524860	T;T;T;T;T;T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39	4.55	4.55	0.56014	.	0.117513	0.56097	D	0.000023	T	0.51568	0.1682	L	0.45228	1.405	0.80722	D	1	D;D;D	0.89917	0.977;1.0;1.0	P;D;D	0.79108	0.854;0.979;0.992	T	0.39272	-0.9622	10	0.27082	T	0.32	-15.4274	17.868	0.88801	0.0:0.0:1.0:0.0	.	137;184;188	Q9HAA9;Q6IBE6;Q11206	.;.;SIA4C_HUMAN	I	184;188;194;184;188;188;188;188;177;187;183;24	ENSP00000227495:V184I;ENSP00000394354:V188I;ENSP00000348451:V194I;ENSP00000433989:V184I;ENSP00000433318:V188I;ENSP00000432424:V188I;ENSP00000376437:V188I;ENSP00000436047:V188I;ENSP00000399444:V177I;ENSP00000434349:V187I;ENSP00000434668:V183I;ENSP00000431170:V24I	ENSP00000227495:V184I	V	+	1	0	ST3GAL4	125783536	1.000000	0.71417	0.901000	0.35422	0.910000	0.53928	8.941000	0.92964	2.516000	0.84829	0.561000	0.74099	GTC		0.547	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386470.1	NM_006278		31	69	0	0	0	1	0	31	69				
MAGEC1	9947	broad.mit.edu	37	X	140996036	140996036	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:140996036T>C	ENST00000285879.4	+	4	3132	c.2846T>C	c.(2845-2847)aTc>aCc	p.I949T	MAGEC1_ENST00000406005.2_Missense_Mutation_p.I16T	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	949	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCTGTGATCTTCAGGAAA	0.463										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(2845-2847)aTc>aCc		melanoma antigen family C, 1							142.0	133.0	136.0					X																	140996036		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140996036T>C	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2846T>C	X.37:g.140996036T>C	ENSP00000285879:p.Ile949Thr	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Missense_Mutation_p.I16T	p.I949T	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	3132	+	Acute lymphoblastic leukemia(192;6.56e-05)		949			MAGE.		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2846T>C	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	t	9.601	1.128727	0.21041	.	.	ENSG00000155495	ENST00000285879;ENST00000406005	T;T	0.07567	3.18;3.18	0.837	0.837	0.18896	.	.	.	.	.	T	0.29093	0.0723	M	0.93720	3.45	0.09310	N	1	P	0.48407	0.91	P	0.56648	0.803	T	0.06041	-1.0849	8	0.87932	D	0	.	.	.	.	.	949	O60732	MAGC1_HUMAN	T	949;16	ENSP00000285879:I949T;ENSP00000385500:I16T	ENSP00000285879:I949T	I	+	2	0	MAGEC1	140823702	0.196000	0.23350	0.010000	0.14722	0.343000	0.28985	1.359000	0.34113	0.575000	0.29434	0.231000	0.17811	ATC		0.463	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		11	291	0	0	0	1	0	11	291				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			42	103	0	0	0	1	0	42	103				
FEM1C	56929	broad.mit.edu	37	5	114860125	114860125	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr5:114860125G>C	ENST00000274457.3	-	3	2295	c.1734C>G	c.(1732-1734)atC>atG	p.I578M		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	578					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		TTATAGGCTGGATTAAATTTT	0.368																																						ENST00000274457.3																			0				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1732-1734)atC>atG		fem-1 homolog c (C. elegans)							109.0	110.0	110.0					5																	114860125		2202	4300	6502	SO:0001583	missense	56929					cytoplasm		g.chr5:114860125G>C		CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"""Ankyrin repeat domain containing"""	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.1734C>G	5.37:g.114860125G>C	ENSP00000274457:p.Ile578Met						p.I578M	NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)	3	2295	-		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	578					B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Missense_Mutation	SNP	ENST00000274457.3	37	c.1734C>G	CCDS4118.1	.	.	.	.	.	.	.	.	.	.	G	2.828	-0.243241	0.05906	.	.	ENSG00000145780	ENST00000274457	T	0.69561	-0.41	4.84	3.03	0.35002	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.54224	0.1845	L	0.49571	1.57	0.48185	D	0.999601	B	0.27117	0.168	B	0.20577	0.03	T	0.44390	-0.9331	10	0.33141	T	0.24	-18.1339	7.118	0.25427	0.1504:0.0:0.7105:0.139	.	578	Q96JP0	FEM1C_HUMAN	M	578	ENSP00000274457:I578M	ENSP00000274457:I578M	I	-	3	3	FEM1C	114888024	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	3.530000	0.53539	0.435000	0.26365	0.462000	0.41574	ATC		0.368	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250857.3	NM_020177		69	103	0	0	0	1	0	69	103				
PYROXD2	84795	broad.mit.edu	37	10	100143599	100143599	+	Nonsense_Mutation	SNP	G	G	A	rs148254477	byFrequency	TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr10:100143599G>A	ENST00000370575.4	-	16	1750	c.1702C>T	c.(1702-1704)Cga>Tga	p.R568*	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	568							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						GCTGCATTTCGCCCAGCAGCT	0.567													G|||	14	0.00279553	0.0	0.0	5008	,	,		15768	0.0		0.0	False		,,,				2504	0.0143					ENST00000370575.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(1702-1704)Cga>Tga		pyridine nucleotide-disulphide oxidoreductase domain 2		G	stop/ARG	0,4406		0,0,2203	169.0	161.0	164.0		1702	3.5	1.0	10	dbSNP_134	164	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	PYROXD2	NM_032709.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		568/582	100143599	1,13005	2203	4300	6503	SO:0001587	stop_gained	84795						oxidoreductase activity	g.chr10:100143599G>A	AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 33"""	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.1702C>T	10.37:g.100143599G>A	ENSP00000359607:p.Arg568*					PYROXD2_ENST00000483923.1_5'UTR	p.R568*	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN			16	1750	-			568					D3DR61|Q5TAA9|Q9BRQ1	Nonsense_Mutation	SNP	ENST00000370575.4	37	c.1702C>T	CCDS7474.1	.	.	.	.	.	.	.	.	.	.	G	36	5.796317	0.96952	0.0	1.16E-4	ENSG00000119943	ENST00000370575	.	.	.	5.39	3.46	0.39613	.	0.106936	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-32.4354	13.9503	0.64113	0.0:0.0:0.7228:0.2772	.	.	.	.	X	568	.	ENSP00000359607:R568X	R	-	1	2	PYROXD2	100133589	1.000000	0.71417	0.993000	0.49108	0.864000	0.49448	3.755000	0.55197	0.584000	0.29591	0.462000	0.41574	CGA		0.567	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709		25	228	0	0	0	1	0	25	228				
POLR3B	55703	broad.mit.edu	37	12	106850924	106850924	+	Missense_Mutation	SNP	C	C	T	rs371453512		TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr12:106850924C>T	ENST00000228347.4	+	21	2524	c.2302C>T	c.(2302-2304)Cgt>Tgt	p.R768C	POLR3B_ENST00000539066.1_Missense_Mutation_p.R710C	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	768			R -> H (in HLD8). {ECO:0000269|PubMed:22036171}.		defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.R768C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						AGGCTTTGGGCGTTGCCTTGT	0.408																																						ENST00000228347.4																			1	Substitution - Missense(1)	p.R768C(1)	urinary_tract(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(2302-2304)Cgt>Tgt		polymerase (RNA) III (DNA directed) polypeptide B		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	178.0	164.0	168.0		2128,2302	6.0	1.0	12		168	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	POLR3B	NM_001160708.1,NM_018082.5	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	710/1076,768/1134	106850924	1,13005	2203	4300	6503	SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106850924C>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.2302C>T	12.37:g.106850924C>T	ENSP00000228347:p.Arg768Cys					POLR3B_ENST00000539066.1_Missense_Mutation_p.R710C	p.R768C	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			21	2524	+			768					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.2302C>T	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.356160	0.82243	0.0	1.16E-4	ENSG00000013503	ENST00000228347;ENST00000539066	T;T	0.73575	-0.76;-0.76	6.01	6.01	0.97437	DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.000000	0.85682	D	0.000000	D	0.91922	0.7442	H	0.98701	4.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94367	0.7592	10	0.87932	D	0	-17.3304	15.1357	0.72562	0.174:0.826:0.0:0.0	.	768	Q9NW08	RPC2_HUMAN	C	768;710	ENSP00000228347:R768C;ENSP00000445721:R710C	ENSP00000228347:R768C	R	+	1	0	POLR3B	105375054	0.995000	0.38212	0.998000	0.56505	0.998000	0.95712	3.243000	0.51392	2.861000	0.98227	0.650000	0.86243	CGT		0.408	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		39	96	0	0	0	1	0	39	96				
STAG1	10274	broad.mit.edu	37	3	136117601	136117601	+	Missense_Mutation	SNP	G	G	C	rs371711194		TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr3:136117601G>C	ENST00000383202.2	-	22	2523	c.2267C>G	c.(2266-2268)tCt>tGt	p.S756C	STAG1_ENST00000536929.1_Missense_Mutation_p.S340C|STAG1_ENST00000236698.5_Missense_Mutation_p.S756C|STAG1_ENST00000434713.2_Missense_Mutation_p.S530C	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	756					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.S756C(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTTGGAAGGAGAGCCATCAGT	0.313																																						ENST00000383202.2																			1	Substitution - Missense(1)	p.S756C(1)	breast(1)	NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2266-2268)tCt>tGt		stromal antigen 1		G	CYS/SER	0,4406		0,0,2203	66.0	66.0	66.0		2267	5.3	1.0	3		66	1,8599	1.2+/-3.3	0,1,4299	no	missense	STAG1	NM_005862.2	112	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign	756/1259	136117601	1,13005	2203	4300	6503	SO:0001583	missense	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136117601G>C	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.2267C>G	3.37:g.136117601G>C	ENSP00000372689:p.Ser756Cys					STAG1_ENST00000536929.1_Missense_Mutation_p.S340C|STAG1_ENST00000434713.2_Missense_Mutation_p.S530C|STAG1_ENST00000236698.5_Missense_Mutation_p.S756C	p.S756C	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN			22	2523	-			756					O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	c.2267C>G	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.894356	0.33442	0.0	1.16E-4	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.3	5.3	0.74995	Armadillo-type fold (1);	0.573862	0.19609	N	0.110200	T	0.26268	0.0641	L	0.35723	1.085	0.39352	D	0.965762	B;B	0.06786	0.0;0.001	B;B	0.10450	0.002;0.005	T	0.04930	-1.0917	10	0.42905	T	0.14	.	12.7884	0.57520	0.0:0.0:0.836:0.164	.	756;756	Q6P275;Q8WVM7	.;STAG1_HUMAN	C	756;756;530;340	ENSP00000372689:S756C;ENSP00000236698:S756C;ENSP00000404396:S530C;ENSP00000445787:S340C	ENSP00000236698:S756C	S	-	2	0	STAG1	137600291	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.810000	0.62598	2.473000	0.83533	0.591000	0.81541	TCT		0.313	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		19	58	0	0	0	1	0	19	58				
ACTL7B	10880	broad.mit.edu	37	9	111617665	111617665	+	Silent	SNP	C	C	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr9:111617665C>T	ENST00000374667.3	-	1	1574	c.546G>A	c.(544-546)tcG>tcA	p.S182S		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	182						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGGACAGCAACGACTGGGACG	0.647																																						ENST00000374667.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(544-546)tcG>tcA		actin-like 7B							46.0	44.0	45.0					9																	111617665		2202	4299	6501	SO:0001819	synonymous_variant	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617665C>T	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.546G>A	9.37:g.111617665C>T							p.S182S	NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN			1	1574	-			182					B2R9Q2|Q5JSV1	Silent	SNP	ENST00000374667.3	37	c.546G>A	CCDS6771.1																																																																																				0.647	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		6	64	0	0	0	1	0	6	64				
HLA-DQA2	3118	broad.mit.edu	37	6	32713716	32713716	+	Missense_Mutation	SNP	G	G	C	rs35633399		TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr6:32713716G>C	ENST00000374940.3	+	3	582	c.480G>C	c.(478-480)gaG>gaC	p.E160D		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	160	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""""""Insulin(DB00071)"""	GTGTTTCTGAGACCAGCTTCC	0.493																																						ENST00000374940.3																			0				endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13						c.(478-480)gaG>gaC		major histocompatibility complex, class II, DQ alpha 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						249.0	228.0	235.0					6																	32713716		1511	2709	4220	SO:0001583	missense	3118				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32713716G>C		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.480G>C	6.37:g.32713716G>C	ENSP00000364076:p.Glu160Asp						p.E160D	NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN			3	582	+			160			Alpha-2.|Ig-like C1-type.		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	ENST00000374940.3	37	c.480G>C	CCDS4753.1	.	.	.	.	.	.	.	.	.	.	.	9.517	1.107339	0.20714	.	.	ENSG00000237541	ENST00000374940	T	0.03004	4.08	3.06	0.747	0.18371	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.537042	0.19019	U	0.124879	T	0.08088	0.0202	M	0.89287	3.02	0.30450	N	0.775371	D	0.63046	0.992	D	0.68353	0.957	T	0.02244	-1.1189	10	0.72032	D	0.01	.	6.205	0.20598	0.3299:0.0:0.6701:0.0	.	160	P01906	DQA2_HUMAN	D	160	ENSP00000364076:E160D	ENSP00000364076:E160D	E	+	3	2	HLA-DQA2	32821694	1.000000	0.71417	0.993000	0.49108	0.486000	0.33341	0.752000	0.26362	0.005000	0.14708	0.174000	0.16983	GAG		0.493	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		97	125	0	0	0	1	0	97	125				
GLUD2	2747	broad.mit.edu	37	X	120181766	120181766	+	Silent	SNP	C	C	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:120181766C>T	ENST00000328078.1	+	1	305	c.228C>T	c.(226-228)cgC>cgT	p.R76R		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	76					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						TCTTCGATCGCGGCGCCAGCA	0.647																																						ENST00000328078.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						c.(226-228)cgC>cgT		glutamate dehydrogenase 2	L-Glutamic Acid(DB00142)|NADH(DB00157)						84.0	72.0	76.0					X																	120181766		2203	4300	6503	SO:0001819	synonymous_variant	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120181766C>T	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.228C>T	X.37:g.120181766C>T							p.R76R	NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN			1	305	+			76					B2R8G0|Q9UDQ4	Silent	SNP	ENST00000328078.1	37	c.228C>T	CCDS14603.1																																																																																				0.647	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		13	129	0	0	0	1	0	13	129				
BTBD8	284697	broad.mit.edu	37	1	92546168	92546168	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr1:92546168C>T	ENST00000342818.3	+	1	276	c.40C>T	c.(40-42)Ctt>Ttt	p.L14F	BTBD8_ENST00000370382.3_Missense_Mutation_p.L14F|BTBD8_ENST00000540648.1_Missense_Mutation_p.L14F	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	14						nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		CCCCATGGTACTTCTGGGGTC	0.657																																						ENST00000370382.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16						c.(40-42)Ctt>Ttt		BTB (POZ) domain containing 8							33.0	36.0	35.0					1																	92546168		2203	4300	6503	SO:0001583	missense	284697					nucleus		g.chr1:92546168C>T	AY346333	CCDS737.1	1p22.1	2013-01-08			ENSG00000189195	ENSG00000189195		"""BTB/POZ domain containing"""	21019	protein-coding gene	gene with protein product						14654994	Standard	NM_183242		Approved		uc001doo.3	Q5XKL5	OTTHUMG00000010289	ENST00000342818.3:c.40C>T	1.37:g.92546168C>T	ENSP00000343686:p.Leu14Phe					BTBD8_ENST00000342818.3_Missense_Mutation_p.L14F|BTBD8_ENST00000540648.1_Missense_Mutation_p.L14F	p.L14F			Q5XKL5	BTBD8_HUMAN		all cancers(265;0.0153)|Epithelial(280;0.0982)	1	307	+		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)	14					Q6V9S5	Missense_Mutation	SNP	ENST00000342818.3	37	c.40C>T	CCDS737.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047578	0.36085	.	.	ENSG00000189195	ENST00000370382;ENST00000342818;ENST00000540648	T;T;T	0.71222	1.46;-0.55;1.46	4.09	2.15	0.27550	.	0.993528	0.08163	N	0.988252	T	0.43277	0.1240	L	0.56769	1.78	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.35276	-0.9795	10	0.36615	T	0.2	0.4536	4.6725	0.12696	0.2369:0.6512:0.0:0.1119	.	14	Q5XKL5	BTBD8_HUMAN	F	14	ENSP00000359408:L14F;ENSP00000343686:L14F;ENSP00000443397:L14F	ENSP00000343686:L14F	L	+	1	0	BTBD8	92318756	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	0.755000	0.26405	0.632000	0.30432	0.655000	0.94253	CTT		0.657	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028372.1	NM_183242		5	25	0	0	0	1	0	5	25				
TSIX	9383	broad.mit.edu	37	X	73046827	73046827	+	lincRNA	SNP	T	T	C			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:73046827T>C	ENST00000604411.1	+	0	34788				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		CTCTTGAGGCTTTTGTTGGTT	0.473																																						ENST00000604411.1																			0																				102.0	96.0	98.0					X																	73046827		876	1991	2867			0							g.chrX:73046827T>C			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73046827T>C						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	34788	+									RNA	SNP	ENST00000604411.1	37																																																																																						0.473	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		3	134	0	0	0	1	0	3	134				
CD82	3732	broad.mit.edu	37	11	44621761	44621761	+	Silent	SNP	C	C	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr11:44621761C>T	ENST00000227155.4	+	4	365	c.117C>T	c.(115-117)agC>agT	p.S39S	CD82_ENST00000342935.3_Silent_p.S39S	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule	39						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				large_intestine(1)|ovary(1)	2						CCGACAAGAGCAGTTTCATCT	0.602																																						ENST00000227155.4																			0				large_intestine(1)|ovary(1)	2						c.(115-117)agC>agT		CD82 molecule							147.0	122.0	131.0					11																	44621761		2203	4299	6502	SO:0001819	synonymous_variant	3732					integral to plasma membrane	protein binding	g.chr11:44621761C>T	U20770	CCDS7909.1, CCDS31469.1	11p11.2	2013-02-14	2006-03-28	2005-03-03		ENSG00000085117		"""CD molecules"", ""Tetraspanins"""	6210	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 6"", ""R2 leukocyte antigen"""	600623	"""kangai 1 (suppression of tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4))"", ""CD82 antigen"""	ST6, KAI1			Standard	XM_006718222		Approved	R2, IA4, TSPAN27	uc001myc.3	P27701		ENST00000227155.4:c.117C>T	11.37:g.44621761C>T						CD82_ENST00000342935.3_Silent_p.S39S	p.S39S	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN			4	365	+			39					D3DQN6|E9PC70|Q7Z2D4|Q7Z5N2	Silent	SNP	ENST00000227155.4	37	c.117C>T	CCDS7909.1																																																																																				0.602	CD82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389886.1			37	103	0	0	0	1	0	37	103				
SEC14L5	9717	broad.mit.edu	37	16	5061202	5061202	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr16:5061202C>T	ENST00000251170.7	+	15	2087	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	RP11-165E7.1_ENST00000588778.1_RNA	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	636	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GATGTCCTGACGGCTCTGCAC	0.662																																						ENST00000251170.7																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						c.(1906-1908)aCg>aTg		SEC14-like 5 (S. cerevisiae)							25.0	29.0	28.0					16																	5061202		1998	4155	6153	SO:0001583	missense	9717					integral to membrane|intracellular	transporter activity	g.chr16:5061202C>T	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1907C>T	16.37:g.5061202C>T	ENSP00000251170:p.Thr636Met					RP11-165E7.1_ENST00000588778.1_RNA	p.T636M	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN			15	2087	+			636			GOLD.			Missense_Mutation	SNP	ENST00000251170.7	37	c.1907C>T	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376192	0.24857	.	.	ENSG00000103184	ENST00000251170	T	0.42513	0.97	4.45	0.0249	0.14143	GOLD (2);	0.240144	0.32802	N	0.005628	T	0.24509	0.0594	L	0.31294	0.92	0.32802	D	0.500238	B	0.27140	0.169	B	0.17433	0.018	T	0.14227	-1.0480	10	0.45353	T	0.12	-9.5136	7.0081	0.24848	0.1245:0.6608:0.0:0.2147	.	636	O43304	S14L5_HUMAN	M	636	ENSP00000251170:T636M	ENSP00000251170:T636M	T	+	2	0	SEC14L5	5001203	0.870000	0.30015	0.116000	0.21606	0.546000	0.35178	1.730000	0.38125	0.188000	0.20168	0.561000	0.74099	ACG		0.662	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			20	35	0	0	0	1	0	20	35				
NCBP2L	392517	broad.mit.edu	37	X	107037591	107037591	+	Silent	SNP	C	C	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:107037591C>T	ENST00000509000.2	+	2	339	c.141C>T	c.(139-141)tcC>tcT	p.S47S	NCBP2L_ENST00000372379.2_Silent_p.S47S			A6PVI3	NCB2L_HUMAN	nuclear cap binding protein subunit 2-like	47	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA cis splicing, via spliceosome (GO:0045292)	nuclear cap binding complex (GO:0005846)	nucleotide binding (GO:0000166)|RNA cap binding (GO:0000339)			large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	5						GGAATCTTTCCTTTTATACAA	0.393																																						ENST00000372379.1																			0				large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	5						c.(139-141)tcC>tcT		nuclear cap binding protein subunit 2-like							57.0	55.0	56.0					X																	107037591		876	1991	2867	SO:0001819	synonymous_variant	392517							g.chrX:107037591C>T			Xq22.3	2013-02-12			ENSG00000170935	ENSG00000170935		"""RNA binding motif (RRM) containing"""	31795	protein-coding gene	gene with protein product							Standard	NG_011409		Approved			A6PVI3	OTTHUMG00000022169	ENST00000509000.2:c.141C>T	X.37:g.107037591C>T						RP5-820B18.3_ENST00000509000.1_RNA	p.S47S							1	141	+									Silent	SNP	ENST00000509000.2	37	c.141C>T																																																																																					0.393	NCBP2L-001	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000057850.2	XM_373362		3	80	0	0	0	1	0	3	80				
DPY19L2P2	349152	broad.mit.edu	37	7	102825946	102825946	+	RNA	SNP	C	C	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr7:102825946C>T	ENST00000312132.4	-	0	3751							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										GACAGCTTGACACTTGCCATT	0.373																																						ENST00000312132.4																			0																																																			0							g.chr7:102825946C>T	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102825946C>T														0	3751	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.373	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		4	88	0	0	0	1	0	4	88				
ZBTB39	9880	broad.mit.edu	37	12	57397618	57397618	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr12:57397618G>T	ENST00000300101.2	-	2	1169	c.1084C>A	c.(1084-1086)Cat>Aat	p.H362N		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	362					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TCCCGAGCATGCTGCCGGATC	0.547																																						ENST00000300101.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(1084-1086)Cat>Aat		zinc finger and BTB domain containing 39							132.0	118.0	123.0					12																	57397618		2203	4300	6503	SO:0001583	missense	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57397618G>T	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.1084C>A	12.37:g.57397618G>T	ENSP00000300101:p.His362Asn						p.H362N	NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN			2	1169	-			362					A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	c.1084C>A	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	G	6.961	0.547279	0.13312	.	.	ENSG00000166860	ENST00000300101	T	0.12465	2.68	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.23688	0.0573	M	0.87381	2.88	0.52501	D	0.99995	P	0.34864	0.473	B	0.30105	0.111	T	0.09818	-1.0657	10	0.87932	D	0	-11.7863	16.3249	0.82975	0.0:0.0:1.0:0.0	.	362	O15060	ZBT39_HUMAN	N	362	ENSP00000300101:H362N	ENSP00000300101:H362N	H	-	1	0	ZBTB39	55683885	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.899000	0.69846	2.720000	0.93068	0.655000	0.94253	CAT		0.547	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		4	172	1	0	1	1	1	4	172				
OR5L2	26338	broad.mit.edu	37	11	55594988	55594988	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr11:55594988G>A	ENST00000378397.1	+	1	294	c.294G>A	c.(292-294)atG>atA	p.M98I		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TAGGGTGCATGGTGCAATTCT	0.468										HNSCC(27;0.073)																												ENST00000378397.1																			0				breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(292-294)atG>atA		olfactory receptor, family 5, subfamily L, member 2							192.0	182.0	186.0					11																	55594988		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594988G>A	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.294G>A	11.37:g.55594988G>A	ENSP00000367650:p.Met98Ile	HNSCC(27;0.073)					p.M98I	NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN			1	294	+		all_epithelial(135;0.208)	98					Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.294G>A	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	2.915	-0.224518	0.06061	.	.	ENSG00000205030	ENST00000378397	T	0.00359	7.87	5.21	-10.4	0.00318	GPCR, rhodopsin-like superfamily (1);	1.183400	0.06020	N	0.651176	T	0.00109	0.0003	N	0.11789	0.175	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.37150	-0.9718	10	0.30078	T	0.28	-0.9513	3.3144	0.07027	0.1174:0.2019:0.1874:0.4933	.	98	Q8NGL0	OR5L2_HUMAN	I	98	ENSP00000367650:M98I	ENSP00000367650:M98I	M	+	3	0	OR5L2	55351564	0.000000	0.05858	0.000000	0.03702	0.131000	0.20780	-3.865000	0.00347	-2.079000	0.00871	0.626000	0.83405	ATG		0.468	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		32	244	0	0	0	1	0	32	244				
CSN3	1448	broad.mit.edu	37	4	71115076	71115076	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr4:71115076C>A	ENST00000304954.3	+	4	535	c.449C>A	c.(448-450)cCa>cAa	p.P150Q		NM_005212.2	NP_005203.2	Q9UNS2	CSN3_HUMAN	casein kappa	0					cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						GCCACTGAACCAACGGTGGAC	0.463																																						ENST00000304954.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(448-450)cCa>cAa		casein kappa							69.0	68.0	69.0					4																	71115076		2203	4300	6503	SO:0001583	missense	1448					extracellular region	protein binding	g.chr4:71115076C>A	U51899	CCDS3538.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000171209	ENSG00000171209			2446	protein-coding gene	gene with protein product		601695	"""casein, kappa"""	CSN10		8863730, 9050925	Standard	NM_005212		Approved		uc003hfe.4	P07498	OTTHUMG00000129399	ENST00000304954.3:c.449C>A	4.37:g.71115076C>A	ENSP00000304822:p.Pro150Gln						p.P150Q	NM_005212.2	NP_005203.2	P07498	CASK_HUMAN			4	535	+			150					B2R683|B4DY81|O43191|Q7LDR6	Missense_Mutation	SNP	ENST00000304954.3	37	c.449C>A	CCDS3538.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384035	0.25031	.	.	ENSG00000171209	ENST00000304954	T	0.28454	1.61	4.43	2.72	0.32119	.	0.494369	0.19018	N	0.124887	T	0.43590	0.1254	L	0.60455	1.87	0.09310	N	1	D	0.56746	0.977	P	0.62298	0.9	T	0.16158	-1.0412	10	0.87932	D	0	-1.5588	7.0429	0.25031	0.0:0.7978:0.0:0.2022	.	150	P07498	CASK_HUMAN	Q	150	ENSP00000304822:P150Q	ENSP00000304822:P150Q	P	+	2	0	CSN3	71149665	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.507000	0.22675	0.824000	0.34613	-0.194000	0.12790	CCA		0.463	CSN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251555.1	NM_005212		3	63	1	0	0.014758	1	0.0167404	3	63				
TBC1D23	55773	broad.mit.edu	37	3	99979910	99979910	+	Silent	SNP	C	C	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr3:99979910C>T	ENST00000394144.4	+	1	55	c.48C>T	c.(46-48)gaC>gaT	p.D16D	TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Silent_p.D16D	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	16					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						CGAGCGGCGACGGCTGGTGAG	0.597																																						ENST00000394144.4																			0				breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						c.(46-48)gaC>gaT		TBC1 domain family, member 23							68.0	70.0	69.0					3																	99979910		2203	4300	6503	SO:0001819	synonymous_variant	55773					intracellular	Rab GTPase activator activity	g.chr3:99979910C>T	AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.48C>T	3.37:g.99979910C>T						TBC1D23_ENST00000344949.5_Silent_p.D16D|TBC1D23_ENST00000486274.1_3'UTR	p.D16D	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN			1	55	+			16					B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Silent	SNP	ENST00000394144.4	37	c.48C>T	CCDS56265.1																																																																																				0.597	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309		3	61	0	0	0	1	0	3	61				
SH3GL3	6457	broad.mit.edu	37	15	84286924	84286924	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr15:84286924A>G	ENST00000427482.2	+	9	1235	c.929A>G	c.(928-930)gAc>gGc	p.D310G	SH3GL3_ENST00000434347.1_Missense_Mutation_p.D318G|SH3GL3_ENST00000564054.1_3'UTR|SH3GL3_ENST00000324537.5_Missense_Mutation_p.D318G|AC087738.1_ENST00000411248.1_RNA|SH3GL3_ENST00000535412.1_3'UTR	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	310	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						AAAGAAGGGGACATCATTACA	0.423																																						ENST00000324537.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(952-954)gAc>gGc		SH3-domain GRB2-like 3							107.0	102.0	104.0					15																	84286924		2203	4300	6503	SO:0001583	missense	6457				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	g.chr15:84286924A>G	AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.929A>G	15.37:g.84286924A>G	ENSP00000391372:p.Asp310Gly					SH3GL3_ENST00000434347.1_Missense_Mutation_p.D318G|SH3GL3_ENST00000535412.1_3'UTR|SH3GL3_ENST00000427482.2_Missense_Mutation_p.D310G|SH3GL3_ENST00000564054.1_3'UTR	p.D318G			Q99963	SH3G3_HUMAN			12	1445	+			310			SH3.		O43553|O43554	Missense_Mutation	SNP	ENST00000427482.2	37	c.953A>G	CCDS10325.2	.	.	.	.	.	.	.	.	.	.	A	26.9	4.778648	0.90195	.	.	ENSG00000140600	ENST00000427482;ENST00000324537;ENST00000434347	T;T;T	0.63580	-0.05;-0.05;-0.05	5.82	5.82	0.92795	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	D	0.85401	0.5688	H	0.96430	3.82	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.74023	0.982;0.944	D	0.90012	0.4122	10	0.87932	D	0	-25.5801	15.3729	0.74581	1.0:0.0:0.0:0.0	.	310;318	Q99963;Q99963-3	SH3G3_HUMAN;.	G	310;318;318	ENSP00000391372:D310G;ENSP00000320092:D318G;ENSP00000397871:D318G	ENSP00000320092:D318G	D	+	2	0	SH3GL3	82077928	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.805000	0.91925	2.216000	0.71823	0.533000	0.62120	GAC		0.423	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027		10	66	0	0	0	1	0	10	66				
IL10RA	3587	broad.mit.edu	37	11	117869741	117869741	+	Silent	SNP	G	G	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr11:117869741G>T	ENST00000227752.3	+	7	1242	c.1122G>T	c.(1120-1122)ctG>ctT	p.L374L	IL10RA_ENST00000545409.1_Silent_p.L225L|IL10RA_ENST00000541785.1_Silent_p.L354L|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	374					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GGATCTGCCTGCAGGAGCCCA	0.627																																						ENST00000227752.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19						c.(1120-1122)ctG>ctT		interleukin 10 receptor, alpha							28.0	30.0	29.0					11																	117869741		2200	4295	6495	SO:0001819	synonymous_variant	3587					integral to membrane|plasma membrane	interleukin-10 receptor activity	g.chr11:117869741G>T	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"""Interleukins and interleukin receptors"", ""CD molecules"""	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.1122G>T	11.37:g.117869741G>T						IL10RA_ENST00000541785.1_Silent_p.L354L|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000545409.1_Silent_p.L225L	p.L374L	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)	7	1242	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	374					A8K6I0|B0YJ27	Silent	SNP	ENST00000227752.3	37	c.1122G>T	CCDS8388.1																																																																																				0.627	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1			3	28	1	0	1	1	1	3	28				
FARP1	10160	broad.mit.edu	37	13	99083304	99083304	+	Missense_Mutation	SNP	C	C	T	rs61730891	byFrequency	TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr13:99083304C>T	ENST00000319562.6	+	18	2178	c.1913C>T	c.(1912-1914)gCg>gTg	p.A638V	FARP1_ENST00000595437.1_Missense_Mutation_p.A638V|FARP1_ENST00000376586.2_Missense_Mutation_p.A638V	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	638	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AAGCACCTGGCGGCTCACCTG	0.587													C|||	2	0.000399361	0.0	0.0029	5008	,	,		16276	0.0		0.0	False		,,,				2504	0.0					ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(1912-1914)gCg>gTg		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)		C	VAL/ALA	1,4405		0,1,2202	45.0	50.0	48.0		1913	5.4	1.0	13	dbSNP_129	48	21,8579	16.0+/-53.3	0,21,4279	yes	missense	FARP1	NM_005766.2	64	0,22,6481	TT,TC,CC		0.2442,0.0227,0.1692	benign	638/1046	99083304	22,12984	2203	4300	6503	SO:0001583	missense	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99083304C>T	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.1913C>T	13.37:g.99083304C>T	ENSP00000322926:p.Ala638Val					FARP1_ENST00000595437.1_Missense_Mutation_p.A638V|FARP1_ENST00000319562.6_Missense_Mutation_p.A638V	p.A638V			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		18	2249	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		638			DH.		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.1913C>T	CCDS9487.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	18.02	3.530636	0.64860	2.27E-4	0.002442	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.66280	-0.2;-0.2	5.42	5.42	0.78866	Dbl homology (DH) domain (5);	0.057306	0.64402	D	0.000002	T	0.43233	0.1238	N	0.03154	-0.405	0.46564	D	0.999107	B;B	0.20459	0.024;0.045	B;B	0.20384	0.008;0.029	T	0.31110	-0.9955	10	0.33940	T	0.23	.	19.577	0.95449	0.0:1.0:0.0:0.0	rs61730891	638;638	Q9Y4F1;C9JME2	FARP1_HUMAN;.	V	638	ENSP00000365771:A638V;ENSP00000322926:A638V	ENSP00000322926:A638V	A	+	2	0	FARP1	97881305	1.000000	0.71417	0.959000	0.39883	0.934000	0.57294	5.536000	0.67180	2.693000	0.91896	0.650000	0.86243	GCG		0.587	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		5	112	0	0	0	1	0	5	112				
BGN	633	broad.mit.edu	37	X	152770259	152770259	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:152770259C>T	ENST00000331595.4	+	2	356	c.170C>T	c.(169-171)cCc>cTc	p.P57L	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	57					blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTGTCACACCCACCTACAGC	0.622																																						ENST00000331595.4																			0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16						c.(169-171)cCc>cTc		biglycan							94.0	81.0	85.0					X																	152770259		2203	4300	6503	SO:0001583	missense	633					proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent	g.chrX:152770259C>T	AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1044	protein-coding gene	gene with protein product	"""biglycan proteoglycan"""	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.170C>T	X.37:g.152770259C>T	ENSP00000327336:p.Pro57Leu					BGN_ENST00000480756.1_3'UTR|BGN_ENST00000370204.1_5'UTR	p.P57L	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN			2	356	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		57					D3DWU3|P13247	Missense_Mutation	SNP	ENST00000331595.4	37	c.170C>T	CCDS14721.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.909430	0.33721	.	.	ENSG00000182492	ENST00000331595;ENST00000431891	T;T	0.69040	0.49;-0.37	4.73	4.73	0.59995	.	0.286793	0.32736	N	0.005718	T	0.63628	0.2527	L	0.61218	1.895	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.60449	-0.7261	10	0.25106	T	0.35	-28.9095	15.9127	0.79485	0.0:1.0:0.0:0.0	.	57	P21810	PGS1_HUMAN	L	57	ENSP00000327336:P57L;ENSP00000402525:P57L	ENSP00000327336:P57L	P	+	2	0	BGN	152423453	0.006000	0.16342	0.983000	0.44433	0.153000	0.21895	1.346000	0.33964	2.090000	0.63153	0.529000	0.55759	CCC		0.622	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060981.1	NM_001711		79	98	0	0	0	1	0	79	98				
AC015849.16	0	broad.mit.edu	37	17	34235499	34235499	+	lincRNA	SNP	G	G	A			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr17:34235499G>A	ENST00000587132.1	-	0	2528																											AGGTGTCATTGCAGGTGCTGG	0.507																																						ENST00000587132.1																			0																																																			0							g.chr17:34235499G>A																													17.37:g.34235499G>A														0	2528	-									RNA	SNP	ENST00000587132.1	37																																																																																						0.507	AC015849.16-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449325.1			4	73	0	0	0	1	0	4	73				
GRIA3	2892	broad.mit.edu	37	X	122561827	122561827	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:122561827G>A	ENST00000371251.1	+	12	1965	c.1913G>A	c.(1912-1914)tGg>tAg	p.W638*	GRIA3_ENST00000371256.5_Nonsense_Mutation_p.W638*|GRIA3_ENST00000542149.1_Nonsense_Mutation_p.W638*|GRIA3_ENST00000264357.5_Nonsense_Mutation_p.W638*			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	638					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	GGGGTTTGGTGGTTCTTCACC	0.443																																						ENST00000264357.5																			0				breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.(1912-1914)tGg>tAg		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						171.0	144.0	153.0					X																	122561827		2203	4300	6503	SO:0001587	stop_gained	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122561827G>A	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1913G>A	X.37:g.122561827G>A	ENSP00000360297:p.Trp638*					GRIA3_ENST00000371256.5_Nonsense_Mutation_p.W638*|GRIA3_ENST00000542149.1_Nonsense_Mutation_p.W638*|GRIA3_ENST00000371251.1_Nonsense_Mutation_p.W638*	p.W638*	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN			12	2205	+			638					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Nonsense_Mutation	SNP	ENST00000371251.1	37	c.1913G>A	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	39	7.759613	0.98474	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.4594	0.87616	0.0:0.0:1.0:0.0	.	.	.	.	X	638	.	ENSP00000264357:W638X	W	+	2	0	GRIA3	122389508	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.423000	0.82170	0.600000	0.82982	TGG		0.443	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		16	306	0	0	0	1	0	16	306				
RBP1	5947	broad.mit.edu	37	3	139237308	139237308	+	Silent	SNP	C	C	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr3:139237308C>T	ENST00000232219.2	-	3	605	c.495G>A	c.(493-495)gaG>gaA	p.E165E	RP11-319G6.1_ENST00000515247.1_RNA	NM_002899.3	NP_002890.2	P09455	RET1_HUMAN	retinol binding protein 1, cellular	103					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Acitretin(DB00459)|Vitamin A(DB00162)	AGCCACGCCCCTCCTTCTCAC	0.597																																						ENST00000232219.2																			0				endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5						c.(493-495)gaG>gaA		retinol binding protein 1, cellular	Vitamin A(DB00162)						122.0	97.0	105.0					3																	139237308		2203	4300	6503	SO:0001819	synonymous_variant	5947					cytoplasm	retinal binding|retinol binding|transporter activity	g.chr3:139237308C>T		CCDS3110.2, CCDS46925.1, CCDS46926.1	3q21-q23	2013-03-01	2001-11-28		ENSG00000114115	ENSG00000114115		"""Fatty acid binding protein family"""	9919	protein-coding gene	gene with protein product		180260	"""retinol-binding protein 1, cellular"""			1654334, 9858824	Standard	NM_002899		Approved	CRABP-I, CRBP1, CRBP, RBPC, CRBPI	uc003eti.2	P09455	OTTHUMG00000155751	ENST00000232219.2:c.495G>A	3.37:g.139237308C>T						RP11-319G6.1_ENST00000515247.1_RNA	p.E165E	NM_002899.3	NP_002890.2	P09455	RET1_HUMAN			3	605	-			103					A8K2Q0|B7Z7A0|E7EWV0|F2Z2F2|Q6FGX8	Silent	SNP	ENST00000232219.2	37	c.495G>A	CCDS3110.2																																																																																				0.597	RBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341495.1	NM_002899		7	102	0	0	0	1	0	7	102				
NLRP13	126204	broad.mit.edu	37	19	56422063	56422063	+	Missense_Mutation	SNP	G	G	C	rs144412914		TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr19:56422063G>C	ENST00000342929.3	-	6	2147	c.2148C>G	c.(2146-2148)aaC>aaG	p.N716K	NLRP13_ENST00000588751.1_Missense_Mutation_p.N716K	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	716							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGCAAATGCTGTTCCATGCGT	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		20218	0.0		0.001	False		,,,				2504	0.0					ENST00000588751.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109						c.(2146-2148)aaC>aaG		NLR family, pyrin domain containing 13							181.0	157.0	165.0					19																	56422063		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56422063G>C	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2148C>G	19.37:g.56422063G>C	ENSP00000343891:p.Asn716Lys					NLRP13_ENST00000342929.3_Missense_Mutation_p.N716K	p.N716K			Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	6	2172	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	716					Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.2148C>G	CCDS33119.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	3.203	-0.163209	0.06502	.	.	ENSG00000173572	ENST00000342929	D	0.84873	-1.91	2.26	-2.95	0.05564	.	.	.	.	.	T	0.58075	0.2097	N	0.01493	-0.835	0.09310	N	1	B	0.22211	0.066	B	0.21917	0.037	T	0.49808	-0.8900	9	0.34782	T	0.22	.	3.4712	0.07567	0.0:0.3326:0.2177:0.4497	.	716	Q86W25	NAL13_HUMAN	K	716	ENSP00000343891:N716K	ENSP00000343891:N716K	N	-	3	2	NLRP13	61113875	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.801000	0.04550	-0.610000	0.05716	-1.234000	0.01563	AAC		0.458	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		41	39	0	0	0	1	0	41	39				
STON2	85439	broad.mit.edu	37	14	81744248	81744248	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr14:81744248T>G	ENST00000267540.2	-	4	1607	c.1407A>C	c.(1405-1407)aaA>aaC	p.K469N	STON2_ENST00000556280.1_5'Flank|STON2_ENST00000555447.1_Missense_Mutation_p.K469N	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	469	SHD. {ECO:0000255|PROSITE- ProRule:PRU00403}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CACGGAATGGTTTTTCTAGGC	0.478																																						ENST00000555447.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34						c.(1405-1407)aaA>aaC		stonin 2							151.0	152.0	152.0					14																	81744248		2203	4300	6503	SO:0001583	missense	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81744248T>G	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.1407A>C	14.37:g.81744248T>G	ENSP00000267540:p.Lys469Asn					STON2_ENST00000267540.2_Missense_Mutation_p.K469N	p.K469N	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	6	1819	-			469			SHD.		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	c.1407A>C	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	T	16.72	3.201192	0.58234	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.14766	2.48;2.49	6.17	-0.568	0.11760	Stonin homology (1);	0.052233	0.64402	D	0.000001	T	0.28234	0.0697	M	0.69823	2.125	0.48452	D	0.999657	D;D	0.64830	0.983;0.994	P;P	0.59825	0.735;0.864	T	0.07347	-1.0777	10	0.87932	D	0	-17.3788	12.436	0.55600	0.0:0.432:0.0:0.568	.	469;469	Q8WXE9;G3V2T7	STON2_HUMAN;.	N	469;481;469	ENSP00000450857:K469N;ENSP00000267540:K469N	ENSP00000267540:K469N	K	-	3	2	STON2	80814001	0.954000	0.32549	0.974000	0.42286	0.930000	0.56654	0.104000	0.15313	-0.086000	0.12550	0.533000	0.62120	AAA		0.478	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		12	290	0	0	0	1	0	12	290				
MAST4	375449	broad.mit.edu	37	5	66441064	66441064	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr5:66441064A>C	ENST00000403625.2	+	23	3246	c.2951A>C	c.(2950-2952)gAg>gCg	p.E984A	MAST4_ENST00000404260.3_Missense_Mutation_p.E987A|MAST4_ENST00000403666.1_Missense_Mutation_p.E795A|MAST4_ENST00000405643.1_Missense_Mutation_p.E805A|MAST4_ENST00000261569.7_Missense_Mutation_p.E790A	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	987						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		ATTTCAACAGAGGGAGAGCAA	0.512																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(2959-2961)gAg>gCg		microtubule associated serine/threonine kinase family member 4							43.0	42.0	43.0					5																	66441064		2012	4198	6210	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66441064A>C	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.2951A>C	5.37:g.66441064A>C	ENSP00000385727:p.Glu984Ala					MAST4_ENST00000403625.2_Missense_Mutation_p.E984A|MAST4_ENST00000403666.1_Missense_Mutation_p.E795A|MAST4_ENST00000261569.7_Missense_Mutation_p.E790A|MAST4_ENST00000405643.1_Missense_Mutation_p.E805A	p.E987A			O15021	MAST4_HUMAN		Lung(70;0.011)	23	3268	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	987					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.2960A>C	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.5|24.5	4.543805|4.543805	0.86022|0.86022	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399|ENST00000443808	T;T;T;T;T|.	0.69306|.	-0.36;-0.36;-0.39;-0.38;-0.36|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.252234|.	0.39274|.	N|.	0.001410|.	T|T	0.73651|0.73651	0.3614|0.3614	M|M	0.75615|0.75615	2.305|2.305	0.39531|0.39531	D|D	0.968666|0.968666	D;P;P;D|.	0.58620|.	0.983;0.859;0.849;0.967|.	P;P;P;P|.	0.58266|.	0.834;0.579;0.759;0.836|.	T|T	0.76024|0.76024	-0.3110|-0.3110	10|5	0.54805|.	T|.	0.06|.	-23.8917|-23.8917	13.8888|13.8888	0.63726|0.63726	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	805;987;790;795|.	E7EWQ5;O15021;O15021-2;O15021-3|.	.;MAST4_HUMAN;.;.|.	A|S	987;984;795;805;805;790;790|107	ENSP00000385048:E987A;ENSP00000385727:E984A;ENSP00000384313:E795A;ENSP00000384099:E805A;ENSP00000261569:E790A|.	ENSP00000261569:E790A|.	E|R	+|+	2|3	0|2	MAST4|MAST4	66476820|66476820	1.000000|1.000000	0.71417|0.71417	0.953000|0.953000	0.39169|0.39169	0.862000|0.862000	0.49288|0.49288	8.059000|8.059000	0.89462|0.89462	2.207000|2.207000	0.71202|0.71202	0.482000|0.482000	0.46254|0.46254	GAG|AGA		0.512	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			14	23	0	0	0	1	0	14	23				
NKX2-1	7080	broad.mit.edu	37	14	36987093	36987093	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr14:36987093G>T	ENST00000518149.1	-	3	1111	c.506C>A	c.(505-507)tCg>tAg	p.S169*	NKX2-1_ENST00000522719.2_Nonsense_Mutation_p.S169*|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1-AS1_ENST00000521292.2_RNA|NKX2-1_ENST00000498187.2_Nonsense_Mutation_p.S169*|NKX2-1_ENST00000354822.5_Nonsense_Mutation_p.S199*			P43699	NKX21_HUMAN	NK2 homeobox 1	169					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|brain development (GO:0007420)|cerebral cortex cell migration (GO:0021795)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|Clara cell differentiation (GO:0060486)|developmental induction (GO:0031128)|endoderm development (GO:0007492)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|forebrain development (GO:0030900)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain neuron fate commitment (GO:0021877)|globus pallidus development (GO:0021759)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|locomotory behavior (GO:0007626)|lung development (GO:0030324)|lung saccule development (GO:0060430)|menarche (GO:0042696)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron migration (GO:0001764)|oligodendrocyte differentiation (GO:0048709)|phospholipid metabolic process (GO:0006644)|pituitary gland development (GO:0021983)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|rhythmic process (GO:0048511)|thyroid gland development (GO:0030878)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|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)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		CTGCGCCTGCGAGAAGAGCAC	0.682			A		NSCLC																																	ENST00000518149.1				Dom	yes		14	14q13	7080	A	NK2 homeobox 1			E			NSCLC		0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	GRCh37	CM024759	NKX2-1	M		c.(505-507)tCg>tAg		NK2 homeobox 1							21.0	22.0	22.0					14																	36987093		2199	4299	6498	SO:0001587	stop_gained	7080				epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding	g.chr14:36987093G>T		CCDS9659.1, CCDS41945.1	14q13.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000136352	ENSG00000136352		"""Homeoboxes / ANTP class : NKL subclass"""	11825	protein-coding gene	gene with protein product		600635	"""benign chorea"", ""thyroid transcription factor 1"""	NKX2A, BCH, TITF1		1976511	Standard	NM_001079668		Approved	TTF-1, TTF1	uc001wtu.3	P43699	OTTHUMG00000140225	ENST00000518149.1:c.506C>A	14.37:g.36987093G>T	ENSP00000428341:p.Ser169*					NKX2-1_ENST00000354822.5_Nonsense_Mutation_p.S199*|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000498187.2_Nonsense_Mutation_p.S169*|NKX2-1_ENST00000522719.2_Nonsense_Mutation_p.S169*	p.S169*			P43699	NKX21_HUMAN	Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)	3	1111	-	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		169					D3DSA3|O14954|O14955|Q7KZF6|Q9BRJ8	Nonsense_Mutation	SNP	ENST00000518149.1	37	c.506C>A	CCDS9659.1	.	.	.	.	.	.	.	.	.	.	G	36	5.740694	0.96873	.	.	ENSG00000136352	ENST00000354822;ENST00000498187;ENST00000518149;ENST00000522719	.	.	.	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.9385	0.86209	0.0:0.0:1.0:0.0	.	.	.	.	X	199;169;169;169	.	ENSP00000346879:S199X	S	-	2	0	NKX2-1	36056844	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.634000	0.98435	2.005000	0.58758	0.555000	0.69702	TCG		0.682	NKX2-1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376225.2	NM_003317		3	19	1	0	1	1	1	3	19				
FAT4	79633	broad.mit.edu	37	4	126371851	126371851	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr4:126371851C>T	ENST00000394329.3	+	9	9693	c.9680C>T	c.(9679-9681)gCt>gTt	p.A3227V	FAT4_ENST00000335110.5_Missense_Mutation_p.A1525V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3227	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGAACAAATGCTGTGATTGCG	0.428																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(9679-9681)gCt>gTt		FAT atypical cadherin 4							90.0	83.0	85.0					4																	126371851		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126371851C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9680C>T	4.37:g.126371851C>T	ENSP00000377862:p.Ala3227Val					FAT4_ENST00000335110.5_Missense_Mutation_p.A1525V	p.A3227V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	9693	+			3227			Cadherin 31.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.9680C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285771	0.59867	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.53857	0.6;0.6	5.53	5.53	0.82687	Cadherin (4);Cadherin-like (1);	0.000000	0.34133	U	0.004240	T	0.77928	0.4204	M	0.86502	2.82	0.80722	D	1	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.87578	0.994;0.998;0.997	T	0.81337	-0.0978	10	0.72032	D	0.01	.	19.4895	0.95044	0.0:1.0:0.0:0.0	.	1525;3227;3227	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	V	3227;1525	ENSP00000377862:A3227V;ENSP00000335169:A1525V	ENSP00000335169:A1525V	A	+	2	0	FAT4	126591301	1.000000	0.71417	0.975000	0.42487	0.109000	0.19521	7.662000	0.83803	2.596000	0.87737	0.655000	0.94253	GCT		0.428	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		3	130	0	0	0	1	0	3	130				
TTN	7273	broad.mit.edu	37	2	179435116	179435116	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr2:179435116C>A	ENST00000591111.1	-	276	71044	c.70820G>T	c.(70819-70821)aGc>aTc	p.S23607I	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S25248I|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S22680I|TTN_ENST00000342175.6_Missense_Mutation_p.S16375I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S16308I|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S16183I			Q8WZ42	TITIN_HUMAN	titin	23607	Fibronectin type-III 71. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTAAGCGGCTGGTTTCTCT	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.(75742-75744)aGc>aTc		titin							55.0	52.0	53.0					2																	179435116		1920	4132	6052	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179435116C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.70820G>T	2.37:g.179435116C>A	ENSP00000465570:p.Ser23607Ile					TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S16183I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S23607I|TTN_ENST00000359218.5_Missense_Mutation_p.S16308I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S22680I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S16375I	p.S25248I	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	75967	-			23607			Ig-like 124.		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.75743G>T		.	.	.	.	.	.	.	.	.	.	C	12.38	1.921546	0.33908	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.57	4.69	0.59074	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73674	0.3617	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.62365	0.991;0.991;0.991;0.983	D;D;D;P	0.64877	0.93;0.93;0.93;0.9	T	0.79538	-0.1762	9	0.87932	D	0	.	15.1494	0.72684	0.0:0.9311:0.0:0.0689	.	16183;16308;16375;23607	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	22680;16183;16375;16308;16181	ENSP00000343764:S22680I;ENSP00000434586:S16183I;ENSP00000340554:S16375I;ENSP00000352154:S16308I	ENSP00000340554:S16375I	S	-	2	0	TTN	179143362	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.776000	0.85560	1.452000	0.47756	0.650000	0.86243	AGC		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	65	1	0	1	1	1	3	65				
PTCHD1	139411	broad.mit.edu	37	X	23353202	23353202	+	Silent	SNP	T	T	G			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:23353202T>G	ENST00000379361.4	+	1	1070	c.210T>G	c.(208-210)gtT>gtG	p.V70V		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	70					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GCAACCTCGTTAACAGCCTCT	0.657																																						ENST00000379361.4																			0				NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						c.(208-210)gtT>gtG		patched domain containing 1							66.0	68.0	67.0					X																	23353202		2203	4300	6503	SO:0001819	synonymous_variant	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23353202T>G	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.210T>G	X.37:g.23353202T>G							p.V70V	NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN			1	1070	+			70					B4DQH0|Q0IJ60|Q6P6B8	Silent	SNP	ENST00000379361.4	37	c.210T>G	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	T	8.499	0.863898	0.17250	.	.	ENSG00000165186	ENST00000456522	.	.	.	4.46	2.59	0.31030	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.8808	0.18854	0.0:0.5525:0.262:0.1856	.	.	.	.	X	6	.	.	L	+	2	0	PTCHD1	23263123	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.685000	0.25378	0.346000	0.23899	-0.393000	0.06486	TTA		0.657	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		4	68	0	0	0	1	0	4	68				
OR5AN1	390195	broad.mit.edu	37	11	59132343	59132343	+	Missense_Mutation	SNP	T	T	C	rs368235228		TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr11:59132343T>C	ENST00000313940.2	+	1	459	c.412T>C	c.(412-414)Tca>Cca	p.S138P		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						ATCCATCATGTCACCCACCCT	0.478																																						ENST00000313940.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						c.(412-414)Tca>Cca		olfactory receptor, family 5, subfamily AN, member 1		T	PRO/SER	1,4401	2.1+/-5.4	0,1,2200	231.0	200.0	211.0		412	4.1	0.9	11		211	0,8590		0,0,4295	no	missense	OR5AN1	NM_001004729.1	74	0,1,6495	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	138/312	59132343	1,12991	2201	4295	6496	SO:0001583	missense	390195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59132343T>C	AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"""GPCR / Class A : Olfactory receptors"""	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.412T>C	11.37:g.59132343T>C	ENSP00000320302:p.Ser138Pro						p.S138P	NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN			1	459	+			138					B9EIS2|Q6IEV4	Missense_Mutation	SNP	ENST00000313940.2	37	c.412T>C	CCDS31559.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.135210	0.37728	2.27E-4	0.0	ENSG00000176495	ENST00000313940	T	0.41065	1.01	4.12	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43919	D	0.000518	T	0.62024	0.2394	M	0.84683	2.71	0.34367	D	0.691667	D	0.89917	1.0	D	0.85130	0.997	T	0.72865	-0.4163	10	0.66056	D	0.02	-11.9049	5.0537	0.14522	0.1795:0.0:0.1862:0.6343	.	138	Q8NGI8	O5AN1_HUMAN	P	138	ENSP00000320302:S138P	ENSP00000320302:S138P	S	+	1	0	OR5AN1	58888919	0.018000	0.18449	0.943000	0.38184	0.154000	0.21943	-0.201000	0.09464	1.835000	0.53391	0.533000	0.62120	TCA		0.478	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394231.1	NM_001004729		8	231	0	0	0	1	0	8	231				
CROCCP2	84809	broad.mit.edu	37	1	16960898	16960913	+	lincRNA	DEL	GTGTGTGTGTGTGTGC	GTGTGTGTGTGTGTGC	-	rs2419216|rs377707334|rs2900842|rs2900841|rs201827153|rs558916148|rs3962301|rs849691|rs200516366|rs57278109	byFrequency	TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr1:16960898_16960913delGTGTGTGTGTGTGTGC	ENST00000412962.1	-	0	16							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											gtgtgtgtgtgtgtgtgtgtgtgtgcgcgtgtgtgA	0.431																																						ENST00000412962.1																			0																																																			0							g.chr1:16960898_16960913delGTGTGTGTGTGTGTGC	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16960898_16960913delGTGTGTGTGTGTGTGC														0	16	-								Q8NF65|Q96FR5|Q9BRE8	RNA	DEL	ENST00000412962.1	37																																																																																						0.431	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	4						3	4	---	---	---	---
FUBP1	8880	broad.mit.edu	37	1	78432402	78432405	+	Frame_Shift_Del	DEL	AACA	AACA	-			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr1:78432402_78432405delAACA	ENST00000370768.2	-	7	527_530	c.446_449delTGTT	c.(445-450)atgttafs	p.ML149fs	FUBP1_ENST00000370767.1_Frame_Shift_Del_p.ML149fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.ML170fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	149	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TGTTCCAGTTAACATACAGGACCT	0.338			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(445-450)aafs		far upstream element (FUSE) binding protein 1																																				SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78432402_78432405delAACA	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.446_449delTGTT	1.37:g.78432402_78432405delAACA	ENSP00000359804:p.Met149fs					FUBP1_ENST00000370768.2_Frame_Shift_Del_p.ML149fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.ML170fs	p.ML149fs			Q96AE4	FUBP1_HUMAN			7	533_536	-			149			KH 1.		Q12828	Frame_Shift_Del	DEL	ENST00000370768.2	37	c.446_449delTGTT	CCDS683.1																																																																																				0.338	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		30	43						30	43	---	---	---	---
FAM102B	284611	broad.mit.edu	37	1	109103056	109103058	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr1:109103056_109103058delGAA	ENST00000370035.3	+	1	346_348	c.6_8delGAA	c.(4-9)atgaag>atg	p.K6del	FAM102B_ENST00000405454.1_In_Frame_Del_p.K6del	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	6	Poly-Lys.									autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		TCACGATGATGAAGAAGAAGAAG	0.64																																						ENST00000370035.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5						c.(4-9)atg>at		family with sequence similarity 102, member B				4,4262		1,2,2130						1.8	1.0			39	31,8221		11,9,4106	no	coding	FAM102B	NM_001010883.2		12,11,6236	A1A1,A1R,RR		0.3757,0.0938,0.2796				35,12483				SO:0001651	inframe_deletion	284611							g.chr1:109103056_109103058delGAA	CR749397	CCDS30786.2	1p13.3	2012-11-05			ENSG00000162636	ENSG00000162636			27637	protein-coding gene	gene with protein product	"""sym-3 homolog B (C. elegans)"""						Standard	NM_001010883		Approved	DKFZp779B126, SYM-3B	uc010ouy.2	Q5T8I3	OTTHUMG00000010967	ENST00000370035.3:c.6_8delGAA	1.37:g.109103065_109103067delGAA	ENSP00000359052:p.Lys6del					FAM102B_ENST00000405454.1_In_Frame_Del_p.MK2del	p.MK2del	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)	1	346_348	+		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	2					A1L1A1|B0QZ46|B0QZ47|Q68DH7	In_Frame_Del	DEL	ENST00000370035.3	37	c.6_8delGAA	CCDS30786.2																																																																																				0.640	FAM102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030188.3	NM_001010883		12	8						12	8	---	---	---	---
C1orf56	54964	broad.mit.edu	37	1	151021328	151021331	+	Splice_Site	DEL	AGTA	AGTA	-			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr1:151021328_151021331delAGTA	ENST00000368926.5	+	1	1113	c.1005delAGTA	c.(1003-1005)cca>cc	p.P335fs	C1orf56_ENST00000465135.1_3'UTR	NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56	335						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGATGCAACCAGTAAGTGTTTGGT	0.505											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(146;891 3320 6873)	ENST00000368926.5																			0				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						c.e1+1		chromosome 1 open reading frame 56																																				SO:0001630	splice_region_variant	54964					extracellular region		g.chr1:151021328_151021331delAGTA	BC002469	CCDS980.1	1q21.2	2013-09-20			ENSG00000143443	ENSG00000143443			26045	protein-coding gene	gene with protein product	"""methylated in normal thymocytes"""					12975309, 22133874	Standard	NM_017860		Approved	FLJ20519, MENT	uc001ewn.3	Q9BUN1	OTTHUMG00000035159	ENST00000368926.5:c.1005+1AGTA>-	1.37:g.151021328_151021331delAGTA			OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1737	C1orf56_ENST00000465135.1_3'UTR	p.335_splice	NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		1	1113	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		335					B2RDU8|Q9NWZ4	Splice_Site	DEL	ENST00000368926.5	37	c.1005_splice	CCDS980.1																																																																																				0.505	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085101.1	NM_017860	Frame_Shift_Del	40	120						40	120	---	---	---	---
EPC2	26122	broad.mit.edu	37	2	149511681	149511682	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr2:149511681_149511682delAG	ENST00000258484.6	+	4	679_680	c.645_646delAG	c.(643-648)acagagfs	p.E216fs		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	216					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		GGAGAAGAACAGAGAAAATGCA	0.361																																						ENST00000258484.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(643-648)acagfs		enhancer of polycomb homolog 2 (Drosophila)																																				SO:0001589	frameshift_variant	26122				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149511681_149511682delAG	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.645_646delAG	2.37:g.149511683_149511684delAG	ENSP00000258484:p.Glu216fs						p.TE215fs	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	4	679_680	+			215					B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Frame_Shift_Del	DEL	ENST00000258484.6	37	c.645_646delAG	CCDS46422.1																																																																																				0.361	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		13	13						13	13	---	---	---	---
MYH15	22989	broad.mit.edu	37	3	108103610	108103612	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr3:108103610_108103612delTTC	ENST00000273353.3	-	40	5669_5671	c.5613_5615delGAA	c.(5611-5616)aagaat>aat	p.K1871del		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1871						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCTGCTCAGATTCTTCTTGTCTT	0.473																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(5611-5616)aat>aa		myosin, heavy chain 15																																				SO:0001651	inframe_deletion	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108103610_108103612delTTC	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5613_5615delGAA	3.37:g.108103613_108103615delTTC	ENSP00000273353:p.Lys1871del						p.KN1871del	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			40	5669_5671	-			1871						In_Frame_Del	DEL	ENST00000273353.3	37	c.5613_5615delGAA	CCDS43127.1																																																																																				0.473	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		55	131						55	131	---	---	---	---
RP11-625I7.1	0	broad.mit.edu	37	4	78359289	78359290	+	lincRNA	INS	-	-	CA	rs199862390|rs398063712|rs56310013|rs569427817|rs71214350|rs75411488|rs200814361		TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr4:78359289_78359290insCA	ENST00000513871.1	-	0	122																											tatttctctttcacacacacac	0.396																																						ENST00000513871.1																			0																																																			0							g.chr4:78359289_78359290insCA																													4.37:g.78359298_78359299dupCA														0	122	-									RNA	INS	ENST00000513871.1	37																																																																																						0.396	RP11-625I7.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000362903.1			2	4						2	4	---	---	---	---
PCDH18	54510	broad.mit.edu	37	4	138442647	138442649	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr4:138442647_138442649delTCT	ENST00000344876.4	-	4	3328_3330	c.2942_2944delAGA	c.(2941-2946)aagagt>agt	p.K981del	PCDH18_ENST00000511115.1_In_Frame_Del_p.K161del|PCDH18_ENST00000412923.2_In_Frame_Del_p.K980del|PCDH18_ENST00000507846.1_In_Frame_Del_p.K760del|PCDH18_ENST00000510305.1_In_Frame_Del_p.K192del	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	981	Interaction with DAB1. {ECO:0000250}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTGGAAAAACTCTTCTTCTTTTC	0.512																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(2941-2946)agt>a		protocadherin 18																																				SO:0001651	inframe_deletion	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138442647_138442649delTCT	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2942_2944delAGA	4.37:g.138442653_138442655delTCT	ENSP00000355082:p.Lys981del					PCDH18_ENST00000412923.2_In_Frame_Del_p.KS980del|PCDH18_ENST00000511115.1_In_Frame_Del_p.KS161del|PCDH18_ENST00000510305.1_In_Frame_Del_p.KS192del|PCDH18_ENST00000507846.1_In_Frame_Del_p.KS760del	p.KS981del	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			4	3328_3330	-	all_hematologic(180;0.24)		981			Interaction with DAB1 (By similarity).		A8K7K3|B7ZKT1|Q52LS2	In_Frame_Del	DEL	ENST00000344876.4	37	c.2942_2944delAGA	CCDS34064.1																																																																																				0.512	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		20	109						20	109	---	---	---	---
PABPC1	26986	broad.mit.edu	37	8	101733783	101733784	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr8:101733783_101733784insT	ENST00000318607.5	-	1	1156_1157	c.28_29insA	c.(28-30)atgfs	p.M10fs	PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.M10fs|PABPC1_ENST00000519004.1_Intron	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	10					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GAGCGAGGCCATGGGGTAGCTG	0.698																																						ENST00000318607.5																			0				breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40						c.(28-30)ggcfs		poly(A) binding protein, cytoplasmic 1																																				SO:0001589	frameshift_variant	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101733783_101733784insT	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.29dupA	8.37:g.101733784_101733784dupT	ENSP00000313007:p.Met10fs					PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.G10fs|PABPC1_ENST00000519004.1_Intron	p.G10fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		1	1156_1157	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		10					Q15097|Q93004	Frame_Shift_Ins	INS	ENST00000318607.5	37	c.28_29insA	CCDS6289.1																																																																																				0.698	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		10	29						10	29	---	---	---	---
ZNF503-AS1	253264	broad.mit.edu	37	10	77089189	77089196	+	lincRNA	DEL	CTTCCTTT	CTTCCTTT	-	rs4746286|rs71024539|rs140462291|rs35316102		TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr10:77089189_77089196delCTTCCTTT	ENST00000416398.1	+	0	262				RP11-399K21.11_ENST00000418818.2_lincRNA	NR_038223.1				ZNF503 antisense RNA 1																		tccttccttccttcctttctttctttct	0.394																																						ENST00000416398.1																			0																																																			0							g.chr10:77089189_77089196delCTTCCTTT			10q22.2	2012-10-12	2012-08-15		ENSG00000226051	ENSG00000226051		"""Long non-coding RNAs"""	27370	non-coding RNA	RNA, long non-coding			"""ZNF503 antisense RNA 1 (non-protein coding)"""				Standard	NR_038223		Approved		uc001jxd.2		OTTHUMG00000018524		10.37:g.77089189_77089196delCTTCCTTT						RP11-399K21.11_ENST00000418818.2_lincRNA		NR_038223.1						0	262	+									RNA	DEL	ENST00000416398.1	37																																																																																						0.394	ZNF503-AS1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000048824.2			4	7						4	7	---	---	---	---
C11orf63	79864	broad.mit.edu	37	11	122805551	122805554	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr11:122805551_122805554delAAAG	ENST00000531316.1	+	4	1494_1497	c.1402_1405delAAAG	c.(1402-1407)aaagaafs	p.KE468fs	C11orf63_ENST00000227349.2_Frame_Shift_Del_p.KE468fs			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	468					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GAATGTTAATAAAGAAAGAGGACA	0.377																																						ENST00000227349.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1402-1407)aafs		chromosome 11 open reading frame 63																																				SO:0001589	frameshift_variant	79864							g.chr11:122805551_122805554delAAAG	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.1402_1405delAAAG	11.37:g.122805555_122805558delAAAG	ENSP00000431669:p.Lys468fs					C11orf63_ENST00000531316.1_Frame_Shift_Del_p.KE468fs	p.KE468fs	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	5	1699_1702	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	468					A8K6G0|Q96GB5|Q9H5D6	Frame_Shift_Del	DEL	ENST00000531316.1	37	c.1402_1405delAAAG	CCDS8438.1																																																																																				0.377	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		12	199						12	199	---	---	---	---
ESR2	2100	broad.mit.edu	37	14	64699865	64699866	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr14:64699865_64699866delTG	ENST00000341099.4	-	9	1999_2000	c.1582_1583delCA	c.(1582-1584)cagfs	p.Q528fs	ESR2_ENST00000553796.1_Intron|ESR2_ENST00000353772.3_Intron|ESR2_ENST00000554572.1_Intron|ESR2_ENST00000555278.1_Intron|ESR2_ENST00000542956.1_Intron|ESR2_ENST00000557772.1_3'UTR|ESR2_ENST00000267525.6_Frame_Shift_Del_p.Q437fs|ESR2_ENST00000358599.5_Intron|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000357782.2_Intron	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	528	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TCACTGAGACTGTGGGTTCTGG	0.604																																						ENST00000341099.4																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23						c.(1582-1584)gfs		estrogen receptor 2 (ER beta)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)		,,,	3,4261		0,3,2129					,,,	2.6	0.0			111	0,8254		0,0,4127	no	frameshift,intron,intron,intron	ESR2	NM_001437.2,NM_001214902.1,NM_001040276.1,NM_001040275.1	,,,	0,3,6256	A1A1,A1R,RR		0.0,0.0704,0.024	,,,	,,,		3,12515				SO:0001589	frameshift_variant	0				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	g.chr14:64699865_64699866delTG	X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"""Nuclear hormone receptors"""	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.1582_1583delCA	14.37:g.64699867_64699868delTG	ENSP00000343925:p.Gln528fs					ESR2_ENST00000553796.1_Intron|ESR2_ENST00000542956.1_Intron|ESR2_ENST00000358599.5_Intron|ESR2_ENST00000357782.2_Intron|ESR2_ENST00000353772.3_Intron|ESR2_ENST00000267525.6_Frame_Shift_Del_p.Q437fs|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000557772.1_3'UTR|ESR2_ENST00000555278.1_Intron|ESR2_ENST00000554572.1_Intron	p.Q528fs	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN		all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	9	1999_2000	-			528			Steroid-binding.		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Frame_Shift_Del	DEL	ENST00000341099.4	37	c.1582_1583delCA	CCDS9762.1																																																																																				0.604	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			17	88						17	88	---	---	---	---
ABCA8	10351	broad.mit.edu	37	17	66887644	66887645	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr17:66887644_66887645insG	ENST00000269080.2	-	22	3146_3147	c.3009_3010insC	c.(3007-3012)agcatcfs	p.I1004fs	ABCA8_ENST00000430352.2_Frame_Shift_Ins_p.I1044fs|ABCA8_ENST00000586539.1_Frame_Shift_Ins_p.I1044fs	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1004					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TAATCATCGATGCTGCTCATGG	0.347																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(3007-3012)agtcgafs		ATP-binding cassette, sub-family A (ABC1), member 8																																				SO:0001589	frameshift_variant	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66887644_66887645insG	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3010dupC	17.37:g.66887645_66887645dupG	ENSP00000269080:p.Ile1004fs					ABCA8_ENST00000586539.1_Frame_Shift_Ins_p.R1044fs|ABCA8_ENST00000430352.2_Frame_Shift_Ins_p.R1044fs	p.R1004fs	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			22	3146_3147	-	Breast(10;4.56e-13)		1004					A1L3U3|C9JQE6|Q86WW0	Frame_Shift_Ins	INS	ENST00000269080.2	37	c.3009_3010insC	CCDS11680.1																																																																																				0.347	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		26	59						26	59	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42795593	42795594	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr19:42795593_42795594delTG	ENST00000575354.2	+	10	2713_2714	c.2673_2674delTG	c.(2671-2676)tctgtafs	p.V892fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.V1801fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.V892fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	892	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TCCTGCAGTCTGTACCCTCCGC	0.624			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(5398-5403)tctafs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795593_42795594delTG	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2673_2674delTG	19.37:g.42795593_42795594delTG	ENSP00000458663:p.Val892fs					CIC_ENST00000575354.2_Frame_Shift_Del_p.SV891fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.SV891fs	p.SV1800fs			Q96RK0	CIC_HUMAN			11	5468_5469	+		Prostate(69;0.00682)	891					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.5400_5401delTG	CCDS12601.1																																																																																				0.624	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			7	64						7	64	---	---	---	---
ZNF334	55713	broad.mit.edu	37	20	45130734	45130736	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr20:45130734_45130736delAAG	ENST00000347606.4	-	5	1424_1426	c.1242_1244delCTT	c.(1240-1245)ttcttt>ttt	p.414_415FF>F	ZNF334_ENST00000593880.1_In_Frame_Del_p.437_438FF>F|ZNF334_ENST00000457685.2_In_Frame_Del_p.376_377FF>F	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	414					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)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AGATTGACAAAAGAAGGTTTTCT	0.424																																						ENST00000457685.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32						c.(1126-1131)ttt>tt		zinc finger protein 334			,	5,4259		2,1,2129					,	-2.3	0.0			119	4,8250		2,0,4125	no	coding,coding	ZNF334	NM_199441.1,NM_018102.3	,	4,1,6254	A1A1,A1R,RR		0.0485,0.1173,0.0719	,	,		9,12509				SO:0001651	inframe_deletion	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45130734_45130736delAAG	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.1242_1244delCTT	20.37:g.45130737_45130739delAAG	ENSP00000255129:p.Phe415del					ZNF334_ENST00000347606.4_In_Frame_Del_p.FF414del|ZNF334_ENST00000593880.1_In_Frame_Del_p.FF437del	p.FF376del			Q9HCZ1	ZN334_HUMAN			6	2451_2453	-		Myeloproliferative disorder(115;0.0122)	414					Q5T6U2|Q9NVW4	In_Frame_Del	DEL	ENST00000347606.4	37	c.1128_1130delCTT	CCDS33480.1																																																																																				0.424	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			41	158						41	158	---	---	---	---
GNAS-AS1	149775	broad.mit.edu	37	20	57405539	57405539	+	RNA	DEL	T	T	-			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr20:57405539delT	ENST00000424094.2	-	0	819				GNAS-AS1_ENST00000598163.1_RNA	NR_002785.2				GNAS antisense RNA 1																		atcatcaccatcaccaccatc	0.567																																						ENST00000424094.2																			0																																																			0							g.chr20:57405539delT	AJ251759		20q13.32	2012-10-19	2012-08-15	2010-11-25	ENSG00000235590	ENSG00000235590		"""Long non-coding RNAs"", ""-"""	24872	non-coding RNA	RNA, long non-coding	"""GNAS antisense"", ""non-protein coding RNA 75"""	610540	"""GNAS antisense RNA (non-protein coding)"", ""GNAS antisense RNA 1 (non-protein coding)"""	GNASAS, GNAS-AS		10749992	Standard	NR_002785		Approved	SANG, NESP-AS, NESPAS, GNAS1AS, NCRNA00075	uc002xzs.2		OTTHUMG00000060481		20.37:g.57405539delT						GNAS-AS1_ENST00000598163.1_RNA		NR_002785.2						0	819	-									RNA	DEL	ENST00000424094.2	37																																																																																						0.567	GNAS-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000133891.2	NR_002785		2	4						2	4	---	---	---	---
OGT	8473	broad.mit.edu	37	X	70756047	70756050	+	Frame_Shift_Del	DEL	TTCC	TTCC	-			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:70756047_70756050delTTCC	ENST00000373719.3	+	2	274_277	c.57_60delTTCC	c.(55-60)ctttccfs	p.LS19fs	OGT_ENST00000373701.3_Intron|OGT_ENST00000498566.1_3'UTR	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	19					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					AACGTATGCTTTCCTTCCAAGGGT	0.426																																						ENST00000373719.3																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(55-60)ctfs		O-linked N-acetylglucosamine (GlcNAc) transferase																																				SO:0001589	frameshift_variant	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70756047_70756050delTTCC	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.57_60delTTCC	X.37:g.70756051_70756054delTTCC	ENSP00000362824:p.Leu19fs					OGT_ENST00000373701.3_Intron|OGT_ENST00000498566.1_3'UTR	p.LS19fs	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN			2	274_277	+	Renal(35;0.156)		19					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Frame_Shift_Del	DEL	ENST00000373719.3	37	c.57_60delTTCC	CCDS14414.1																																																																																				0.426	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		44	87						44	87	---	---	---	---
